Prior Research

The Rare Diseases Clinical Research Network was established in 2003 by the National Institutes of Health (NIH). Through four grant cycles, the RDCRN has funded significant research into many rare diseases conducted by multiple research teams. Listed below are scientific publications published by consortia funded in previous grant cycles:

Journal Articles

  1. Lee SE, Khazenzon AM, Trujillo AJ, et al. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain. Nov 2014;137(Pt 11):30473060. PMID: 25273996, PMCID: PMC4208465
  2. Sha SJ, Ghosh PM, Lee SE, et al. Predicting amyloid status in corticobasal syndrome using modified clinical criteria, magnetic resonance imaging and fluorodeoxyglucose positron emission tomography. Alzheimers Res. Ther. 2015;7(1):8. PMID: 25733984, PMCID: PMC4346122
  3. Finger EC, MacKinley J, Blair M, et al. Oxytocin for frontotemporal dementia: a randomized dose-finding study of safety and tolerability. Neurology. Jan 13 2015;84(2):174-181. PMID: 25503617, PMCID: PMC4336088
  4. Fiandaca MS, Kapogiannis D, Mapstone M, et al. Identification of preclinical Alzheimer's disease by a profile of pathogenic proteins in neurally derived blood exosomes: A case-control study. Alzheimer's & dementia: the journal of the Alzheimer's Association. Jun 2015;11(6):600-607 e601. PMID: 25130657, PMCID: PMC4329112
  5. Iglesias JE, Van Leemput K, Bhatt P, et al. Bayesian segmentation of brainstem structures in MRI. Neuroimage. Jun 2015;113:184-195. PMID: 25776214, PMCID: PMC4434226
  6. Block NR, Sha SJ, Karydas AM, et al. Frontotemporal Dementia and Psychiatric Illness: Emerging Clinical and Biological Links in Gene Carriers. Am. J. Geriatr. Psychiatry. Jun 21 2015. PMID: 26324540, PMCID: PMC4686378
  7. McCarter SJ, Tippmann-Peikert M, Sandness DJ, et al. Neuroimaging-evident lesional pathology associated with REM sleep behavior disorder. Sleep medicine. Dec 2015;16(12):1502-1510. PMID: 26611948
  8. Boman A, Svensson S, Boxer A, et al. Distinct Lysosomal Network Protein Profiles in Parkinsonian Syndrome Cerebrospinal Fluid. Journal of Parkinson's disease. 2016;6(2):307-315. PMID: 27061067, PMCID: PMC4927933
  9. Dutt S, Binney RJ, Heuer HW, et al. Progression of brain atrophy in PSP and CBS over 6 months and 1 year. Neurology. 2016;87(19):2016-2025. PMID: 27742814, PMCID: PMC5109951
  10. Espay AJ, Bonato P, Nahab FB, et al. Technology in Parkinson's disease: Challenges and opportunities. Mov Disord. 2016;31(9):1272-1282. PMID: 27125836, PMCID: PMC5014594
  11. Goetzl EJ, Kapogiannis D, Schwartz JB, et al. Decreased synaptic proteins in neuronal exosomes of frontotemporal dementia and Alzheimer's disease. FASEB J. 2016;30(12):4141-4148. PMID: 27601437, PMCID: PMC5102122
  12. Hewer S, Varley S, Boxer AL, Paul E, Williams DR. Minimal clinically important worsening on the progressive supranuclear Palsy Rating Scale. Mov Disord. 2016;31(10):1574-1577. PMID: 27324431, PMCID: PMC5215805
  13. Litvan I, Lees PS, Cunningham CR, et al. Environmental and occupational risk factors for progressive supranuclear palsy: Case-control study. Mov Disord. 2016;31(5):644-652. PMID: 26854325, PMCID: PMC4861658
  14. Miller ZA, Sturm VE, Camsari GB, et al. Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture. Neurology(R) neuroimmunology & neuroinflammation. 2016;3(6):e301. PMID: 27844039, PMCID: PMC5087253
  15. Nandipati S, Litvan I. Environmental Exposures and Parkinson's Disease. Int J Environ Res Public Health. 2016;13(9). PMID: 27598189, PMCID: PMC5036714
  16. Onyike CU. Psychiatric Aspects of Dementia. Continuum (Minneapolis, Minn). 2016;22(2 Dementia):600-614. PMID: 27042910, PMCID: PMC5390928
  17. Santos-Santos MA, Mandelli ML, Binney RJ, et al. Features of Patients With Nonfluent/Agrammatic Primary Progressive Aphasia With Underlying Progressive Supranuclear Palsy Pathology or Corticobasal Degeneration. JAMA neurology. 2016;73(6):733-742. PMID: 27111692, PMCID: PMC4924620
  18. Stamelou M, Schope J, Wagenpfeil S, et al. Power calculations and placebo effect for future clinical trials in progressive supranuclear palsy. Mov Disord. 2016;31(5):742-747. PMID: 26948290, PMCID: PMC5289149
  19. Tsai RM, Boxer AL. Therapy and clinical trials in frontotemporal dementia: past, present, and future. J Neurochem. 2016;138 Suppl 1:211-221. PMID: 27306957, PMCID: PMC5217534
  20. Walsh CM, Ruoff L, Varbel J, et al. Rest-activity rhythm disruption in progressive supranuclear palsy. Sleep medicine. 2016;22:50-56. PMID: 27544836, PMCID: PMC4996365
  21. Zhang Y, Walter R, Ng P, et al. Progression of Microstructural Degeneration in Progressive Supranuclear Palsy and Corticobasal Syndrome: A Longitudinal Diffusion Tensor Imaging Study. PLoS ONE. 2016;11(6):e0157218. PMID: 27310132, PMCID: PMC4911077
  22. Rojas JC, Boxer AL. Neurodegenerative disease in 2015: Targeting tauopathies for therapeutic translation. Nature reviews. Neurology. Feb 2016;12(2):74-76. PMID: 26794651, PMCID: PMC5221610
  23. Bang J, Lobach IV, Lang AE, et al. Predicting disease progression in progressive supranuclear palsy in multicenter clinical trials. Parkinsonism Relat. Disord. Apr 18 2016. PMID: 27172829, PMCID: PMC4914418
  24. Tsai RM, Lobach I, Bang J, et al. Clinical correlates of longitudinal brain atrophy in progressive supranuclear palsy. Parkinsonism Relat. Disord. Apr 24 2016. PMID: 27132501, PMCID: PMC4914401
  25. Besser LM, Litvan I, Monsell SE, et al. Mild cognitive impairment in Parkinson's disease versus Alzheimer's disease. Parkinsonism Relat Disord. Jun 2016;27:54-60. PMID: 27089852, PMCID: PMC4887313
  26. Bejanin A, Schonhaut DR, La Joie R, et al. Tau pathology and neurodegeneration contribute to cognitive impairment in Alzheimer's disease. Brain. 2017;140(12):3286-3300. PMID: 29053874
  27. Brown JA, Hua AY, Trujllo A, et al. Advancing functional dysconnectivity and atrophy in progressive supranuclear palsy. NeuroImage Clinical. 2017;16:564-574. PMID: 28951832, PMCID: PMC5605489
  28. Chen J, Yu JT, Wojta K, et al. Genome-wide association study identifies MAPT locus influencing human plasma tau levels. Neurology. 2017;88(7):669-676. PMID: 28100725, PMCID: PMC5317386 Elahi FM, Marx G, Cobigo Y, et al. Longitudinal white matter change in frontotemporal dementia subtypes and sporadic late onset Alzheimer's disease. NeuroImage Clinical. 2017;16:595-603. PMID: 28975068, PMCID: PMC5614750
  29. Fernandez-Fournier M, Perry DC, Tartaglia MC, et al. Precipitous Deterioration of Motor Function, Cognition, and Behavior. JAMA neurology. 2017;74(5):591-596. PMID: 28264087, PMCID: PMC5600817
  30. Gendron TF, Chew J, Stankowski JN, et al. Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis. Sci Transl Med. 2017;9(383). PMID: 28356511, PMCID: PMC5576451
  31. Gerstenecker A, Roberson ED, Schellenberg GD, et al. Genetic influences on cognition in progressive supranuclear palsy. Mov Disord. 2017;32(12):1764-1771. PMID: 29076559, PMCID: PMC5818145
  32. Hoglinger GU, Respondek G, Stamelou M, et al. Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria. Mov Disord. 2017. PMID: 28467028, PMCID: PMC5516529
  33. Hoglinger GU, Schope J, Stamelou M, et al. Longitudinal magnetic resonance imaging in progressive supranuclear palsy: A new combined score for clinical trials. Mov Disord. 2017. PMID: 28436538, PMCID: PMC5808453
  34. Lapid MI, Kuntz KM, Mason SS, et al. Efficacy, Safety, and Tolerability of Armodafinil Therapy for Hypersomnia Associated with Dementia with Lewy Bodies: A Pilot Study. Dement Geriatr Cogn Disord. 2017;43(5-6):269-280. PMID: 28448998, PMCID: PMC5503747
  35. Lopez A, Lee SE, Wojta K, et al. A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction. Brain. 2017;140(4):1128-1146. PMID: 28334843, PMCID: PMC5382950
  36. Perry DC, Brown JA, Possin KL, et al. Clinicopathological correlations in behavioural variant frontotemporal dementia. Brain. 2017;140(12):3329-3345. PMID: 29053860
  37. Respondek G, Kurz C, Arzberger T, et al. Which ante mortem clinical features predict progressive supranuclear palsy pathology? Mov Disord. 2017;32(7):995-1005. PMID: 28500752, PMCID: PMC5543934
  38. Roe CM, Barco PP, Head DM, et al. Amyloid Imaging, Cerebrospinal Fluid Biomarkers Predict Driving Performance Among Cognitively Normal Individuals. Alzheimer Dis Assoc Disord. 2017;31(1):69-72. PMID: 27128959, PMCID: PMC5085874
  39. Scherling CS, Zakrzewski J, Datta S, et al. Mistakes, Too Few to Mention? Impaired Selfconscious Emotional Processing of Errors in the Behavioral Variant of Frontotemporal Dementia. Frontiers in behavioral neuroscience. 2017;11:189. PMID: 29089874, PMCID: PMC5651000
  40. Schonhaut DR, McMillan CT, Spina S, et al. 18 F-flortaucipir tau positron emission tomography distinguishes established progressive supranuclear palsy from controls and Parkinson disease: A multicenter study. Ann Neurol. 2017;82(4):622-634. PMID: 28980714, PMCID: PMC5665658
  41. Seo SW, Ayakta N, Grinberg LT, et al. Regional correlations between [(11)C]PIB PET and postmortem burden of amyloid-beta pathology in a diverse neuropathological cohort. NeuroImage Clinical. 2017;13:130-137. PMID: 27981028, PMCID: PMC5144753
  42. Sha SJ, Miller ZA, Min SW, et al. An 8-week, open-label, dose-finding study of nimodipine for the treatment of progranulin insufficiency from GRN gene mutations. Alzheimer's & dementia (New York, N Y). 2017;3(4):507-512. PMID: 29124108, PMCID: PMC5671622
  43. Spina S, Schonhaut DR, Boeve BF, et al. Frontotemporal dementia with the V337M MAPT mutation: Tau-PET and pathology correlations. Neurology. 2017;88(8):758-766. PMID: 28130473, PMCID: PMC5344079
  44. Spinelli EG, Mandelli ML, Miller ZA, et al. Typical and atypical pathology in primary progressive aphasia variants. Ann Neurol. 2017;81(3):430-443. PMID: 28133816, PMCID: PMC5421819
  45. Whitwell JL, Hoglinger GU, Antonini A, et al. Radiological biomarkers for diagnosis in PSP: Where are we and where do we need to be? Mov Disord. 2017;32(7):955-971. PMID: 28500751, PMCID: PMC5511762
  46. Yokoyama JS, Karch CM, Fan CC, et al. Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. Acta Neuropathol. 2017;133(5):825-837. PMID: 28271184, PMCID: PMC5429027
  47. Bjorkhem I, Patra K, Boxer AL, Svenningsson P. 24S-Hydroxycholesterol Correlates With Tau and Is Increased in Cerebrospinal Fluid in Parkinson's Disease and Corticobasal Syndrome. Frontiers in neurology. 2018;9:756. PMID: 30245667, PMCID: PMC6137204
  48. Chen JA, Chen Z, Won H, et al. Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases. Mol Neurodegener. 2018;13(1):41. PMID: 30089514, PMCID: PMC6083608
  49. Iaccarino L, Tammewar G, Ayakta N, et al. Local and distant relationships between amyloid, tau and neurodegeneration in Alzheimer's Disease. NeuroImage Clinical. 2018;17:452-464. PMID: 29159058, PMCID: PMC5684433
  50. Ljubenkov PA, Staffaroni AM, Rojas JC, et al. Cerebrospinal fluid biomarkers predict frontotemporal dementia trajectory. Annals of clinical and translational neurology. 2018;5(10):1250-1263. PMID: 30349860, PMCID: PMC6186942
  51. McKeever PM, Schneider R, Taghdiri F, et al. MicroRNA Expression Levels Are Altered in the Cerebrospinal Fluid of Patients with Young-Onset Alzheimer's Disease. Mol Neurobiol. 2018;55(12):8826-8841. PMID: 29603092, PMCID: PMC6208843
  52. Ossenkoppele R, Rabinovici GD, Smith R, et al. Discriminative Accuracy of [18F]flortaucipir Positron Emission Tomography for Alzheimer Disease vs Other Neurodegenerative Disorders. JAMA. 2018;320(11):1151-1162. PMID: 30326496
  53. Pottier C, Zhou X, Perkerson RB, 3rd, et al. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. Lancet Neurol. 2018;17(6):548-558. PMID: 29724592, PMCID: PMC6237181
  54. Shoeibi A, Litvan I. Prominent tongue and jaw tremor in a patient with probable Progressive Supranuclear Palsy. Movement disorders clinical practice. 2018;5(1):99-100. PMID: 30271811, PMCID: PMC6159909
  55. Zetterberg H, van Swieten JC, Boxer AL, Rohrer JD. Fluid biomarkers for frontotemporal dementias. Neuropathol Appl Neurobiol. 2018. PMID: 30422329
  56. Duff K, McDermott D, Luong D, Randolph C, Boxer AL. Cognitive deficits in progressive supranuclear palsy on the Repeatable Battery for the Assessment of Neuropsychological Status. J Clin Exp Neuropsychol. 2019:1-7. PMID: 30712468
  57. Tsai RM, Bejanin A, Lesman-Segev O, et al. (18)F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes. Alzheimers Res Ther. 2019;11(1):13. PMID: 30704514

Book Chapters

  1. Butler MG. Genetics and obesity: Prader-Willi syndrome, an illustrative example. In: Ling PR, ed. Focus on Obesity Research. Hauppauge, NY: Nova Science Publishers; 2005:51-88.
  2. Butler MG. Prader-Willi syndrome: an example of genomic imprinting. In: Butler MG, Meaney FJ, eds. Genetics of Developmental Disabilities. 1st ed. Boca Raton: Taylor & Francis; 2005:279318.
  3. McCune H, Driscoll DJ. Prader-Willi syndrome. In: Ekvall SW, Ekvall VK, eds. Pediatric Nutrition in Chronic Diseases and Developmental Disorders. Oxford: Oxford University Press; 2005:128132.
  4. Butler MG, Hanchett J, Thompson T. Clinical findings and natural history of Prader-Willi syndrome. In: Butler MG, Lee PDK, Whitman BY, eds. Management of Prader-Willi Syndrome. 3rd ed. New York, NY: Springer-Verlag Publishers; 2006:3-48.
  5. Hodapp RM, Dykens E. Behavioural phenotypes: growing understandings of psychiatric disorders in individuals with disabilities. In: Bouras N, Holt G, eds. Psychiatric and behavioural disorders in developmental disabilities 2nd ed. Cambridge: Cambridge University Press; 2007:202-214.
  6. Hodapp RM, Dykens E. Behavioral effects of genetic mental retardation disorders. In: Jacobson JW, Mulick JA, Rojahn J, eds. Handbook of Intellectual and Developmental Disabilities. New York: Springer 2007.
  7. Levitas A, Dykens E, Finucane B, Kates. Behavioral phenotypes. In: Fletcher R, Loschen E, Stavrakaki C, First M, eds. Diagnostic Manual-Intellectual Disability: A textbook of diagnosis of mental disorders in persons with intellectual disability. Kingston, NY: NADD Press; 2007.
  8. Volkmar F, Dykens E, Hodapp RM. Mental retardation. In: Martin A, Volkmar F, eds. Lewis's Child and Adolescent Psychiatry. 4 ed. Philadelphia: Lippincott Williams & Wilkins; 2007:401409.
  9. Bittel DC, Butler MG. Clinical genetics, gene expression and imprinting in Prader-Willi syndrome: invited review. In: Squire L, ed. New Encyclopedia of Neuroscience. Hauppauge, NY: Nova Science Publishers; 2008:51-88.
  10. Bird LM. Angelman syndrome. In: Squire L, ed. Encyclopedia of Neuroscience. Vol 1. Oxford: Academic Press; 2009:375-380.

Abstracts Presented at Conferences

  1. Beaudet A. Status of therapeutic trials in Angelman syndrome. Paper presented at: Canadian Angelman Syndrome Society, 7th International Conference; July 23, 2004; Edmonton, Alberta, Canada.
  2. Bacino C, Peters S, Beaudet A, Madduri N, Bird L, Barbieri-Welge R, Bichell T, Sahoo T. Comparative genome microarray testing in deletion positive Angelman syndrome subjects and genotype-phenotype correlations. Class I deletions predict a more severe phenotype. Paper presented at: The American College of Medical Genetics Meeting; March 17-20, 2005; Grapevine, TX.
  3. Beaudet A, Bacino C, Bird L, Kimonis V, Peters S, Bichell T, Barbieri-WeIge R, Shinawi L. Results of a trial of folic acid and betaine in Angelman syndrome and future directions. Paper presented at: Biennial Angelman Syndrome Foundation Conference; June 28, 2005; Anaheim, CA.
  4. Bird L, Bichell T, Bacino C, Beaudet A, Shinawi L, Kimonis V. Gastrointestinal manifestations of Angelman syndrome. Paper presented at: Biennial Angelman Syndrome Foundation Conference; June 28, 2005; Anaheim, CA.
  5. Peters S, Beaudet A, Madduri N, Sahoo T, Bird L, Barbieri-Welge R, Bichell T, Bacino C. Autism in Angelman syndrome. Paper presented at: The biennial Angelman Syndrome Foundation Conference; June 28, 2005; Anaheim, CA.
  6. Peters S, Sahoo T, Beaudet A, German J, Bird L, Barbieri-Welge R, Bichell T, Bacino C. Redefining the clinical phenotype in Angelman syndrome using microarray-based comparative genomic hybridization testing in children with known deletions. Paper presented at: American Society of Human Genetics Meeting; October 25-29, 2005; Salt Lake City, UT.
  7. Dykens EM. New findings on behavioral strengths and problems in persons with Prader-Willi syndrome. Paper presented at: The 28th Annual Prader-Willi Syndrome Scientific and Parent Conference; July, 2006; Grand Island, NY.
  8. Driscoll D. Neurocognitive studies of Prader-Willi syndrome and early-onset morbid obesity. Paper presented at: Medical Genetics Grand Rounds; July 7, 2006; Cambridge University, Cambridge, England.
  9. Peters S, Sahoo T, German J, Shaw C, Bird L, Kimoni sV, Beaudet A, Bacino C. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-based comparative genomic hybridization (CGH): Large segmental duplicons flank the breakpoints. Poster presentation Paper presented at: The American Society of Human Genetics meeting; October 9-13, 2006; New Orleans, LA.
  10. Driscoll D. The nutritional phases of Prader-Willi syndrome. Paper presented at: First International Prader-Willi Syndrome Consensus Conference; October 26-28, 2006; Toulouse, France.
  11. Dykens EM. Behavioural problems in Prader-Willi and Williams syndromes. Paper presented at: International Jerome Lejeune Clinical Conference; November, 2006; Institut Pasteur, Paris, France.
  12. Dykens EM, Roof E, Pantino E, Johnson R, Bialik M. Prader-Willi syndrome: Toward a more balanced phenotype. Paper presented at: 40th Annual Gatlinburg Conference on Research and Theory in Intellectual and Developmental Disabilities; March, 2007.
  13. Dykens EM. Strengths and weaknesses in people with Prader-Willi syndrome. Paper presented at: The 5th International Conference on Prader-Willi syndrome; June, 2007; Cluj, Romania.
  14. Schwenk KA, Miller JL, Kranzler JH, Driscoll DJ. Prader-Willi syndrome and others with earlyonset morbid obesity share similar strengths in cognition and achievement. Paper presented at: International Prader-Willi Syndrome Organization 2007 Conference; June, 2007; Cluj, Romania.
  15. Bird L. Results of the Folate-Betaine trial for the treatment of Angelman syndrome, and progress in the Betaine-B12-Creatine-Metafolin trial. Paper presented at: Biennial Angelman Syndrome Foundation conference; July 25, 2007; St. Louis, MO.
  16. Tan W, Bacino C, Skinner S, Beaudet A, Bichell T, LM B. A summary of the Rare Disease Network’s Angelman syndrome natural history study. Paper presented at: Angelman Syndrome Foundation 2007 Scientific Symposium; July 25, 2007; St Louis, MO.
  17. Bichell T, Kimonis V, Bacino C, Beaudet A, Bird L, Nespeca M. Efficacy of anti-epileptic medications for Angelman syndrome. Paper presented at: Angelman Syndrome Foundation’s 10th Biennial Conference and Scientific Symposium; July 26, 2007; St. Louis, MO.
  18. Bichell TJ, Valle C, Johnson M, Huffsmith B, Rossi L, Ulman T, Gutierrez C, Key S, Lee E, Dykens E. Alphabet therapy: a novel way to teach children with Angelman syndrome and measure their academic abilities. Paper presented at: Angelman Syndrome Foundation’s 10th Biennial Conference and Scientific Symposium; July 26, 2007; St. Louis, MO.
  19. Tan W, Lawrence J, Bacino C, Skinner S, Beaudet A, Bichell T, LM B. A natural history study of Angelman syndrome. Paper presented at: Rare Diseases Clinical Research Network 2007 Conference on Clinical Research for Rare Diseases; Sept 9, 2007; Bethesda, MD.
  20. Driscoll D. Health issues and medical interventions in childhood for Prader-Willi syndrome. Paper presented at: Prader-Willi California Foundation Annual Meeting; October 25, 2007; Los Angeles, CA.
  21. Butler MG. Genetics of Prader-Willi syndrome. Paper presented at: 1st Asia-Pacific Prader-Willi Syndrome Conference; March 1, 2008; Wellington, New Zealand.
  22. Butler MG. Prader-Willi syndrome: evidence of autism. Paper presented at: 1st Asia-Pacific Prader-Willi Syndrome Conference; March 2, 2008; Wellington, New Zealand.
  23. Rossi L, Valle C, Lumauag F, Johnson M, Huffsmith B, Ulman T, Gutierrez C, Key S, Lee E, Dykens E, Bichell TJ. Alphabet therapy: a novel way to teach children with Angelman syndrome and measure their academic abilities. Paper presented at: ABAI Annual Conference; May, 2008; Chicago, IL.
  24. Butler MG. Genetic subtype differences in Prader-Willi syndrome. Paper presented at: Italian Auxological Institute -50th Anniversary Conference; May 8, 2008; Milan, Italy.
  25. Peters SU, Bird LM, Barbier-Welge R, Tan WH, Hundley R, Skinner S, Bauer-Carlin A, Sahoo T, Bacino CA. The relationship between molecular subtype and autism symptom severity in Angelman syndrome. Paper presented at: The International Meeting for Autism Research; May 15, 2008; London, UK.
  26. Driscoll D. Overview of Prader-Willi syndrome. Paper presented at: Prader-Willi Syndrome Association (USA) National Meeting; July, 2008; Milwaukee, WI.
  27. Dykens EM. Effects of growth hormone treatment on young children with Prader-Willi syndrome. Paper presented at: 30th Annual Scientific Conference of the Prader-Willi Syndrome; July, 2008; Milwaukee, WI.
  28. Miller JL, Driscoll DJ. Changes in head circumference with growth hormone therapy in individuals with PWS. Paper presented at: Prader-Willi Syndrome Association Meeting; July, 2008; Milwaukee, WI.
  29. Schwenk KA, Miller JL, Kranzler JH, Lynn CH, Driscoll DJ. Factors effecting cognitive and achievement abilities in Prader-Willi syndrome. Paper presented at: Prader-Willi Syndrome Association Meeting; July, 2008; Milwaukee, WI.
  30. Kim S-J, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, Driscoll DJ. Unique deletions in Prader-Willi syndrome. Paper presented at: Prader-Willi Syndrome Association 2008 Meeting; July 2008; Milwaukee, WI.
  31. Cassidy SB, McCandless SE, Driscoll DJ, Schwartz S. Do some people with severe Prader-Willi syndrome have two microdeletion syndromes? . Paper presented at: David Smith Meeting; August, 2008; Greenwood, SC.
  32. Bird L, Bacino C, Skinner S, Tan W-H, Peters S, Kimonis V, Barbieri-Welge R, Bichell T, Waisbren S, Gentile J, Tunick R, Anselm I, Beaudet A. Treatment of Angelman syndrome: results of the Folate-Betaine trial and interim analysis of the metafolin-betaine-vitamin B12-creatine trial. Paper presented at: David W. Smith Workshop on Malformations and Morphogenesis; August 9, 2008.
  33. Dykens EM, Finucane B. Behavioral and psychiatric phenotypes in genetic syndromes: Implications for treatment. Paper presented at: 25th Annual NADD Conference; November, 2008; Ontario, Canada.
  34. Peters SU, Bacino CA, Chu Z, Yallampalli R, Torres L, Hunter JV, Wilde EA. Inside the brain in Angelman syndrome: phenotypic characterization using advanced neuroimaging techniques. Paper presented at: The annual meeting of The American Society of Human Genetics; November, 2008; Philadelphia, PA.
  35. Butler MG, Kibiryeva N, Fischer W, Bittel DC. High resolution array comparative genomic hybridization (aCHG) in individuals with Prader-Willi syndrome. Paper presented at: KUMC Faculty Research Day and Poster Session; November 6, 2008; Kansas City, KS.
  36. Driscoll D. Prader-Willi syndrome, genetics of obesity section. Paper presented at: American College of Medical Genetics Meeting; March 25-29, 2009; Tampa, FL.
  37. Gentile J, Tan W, Bacino C, Skinner S, Barbieri-Welge R, Bauer-Carlin A, Beaudet A, Bichell T, Horowitz L, Lee H, Sahoo T, Waisbren S, Bird L, Peters S. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. Paper presented at: American College of Medical GeneticsAnnual Clinical Meeting; March 27, 2009; Tampa, Florida.
  38. Peters SU, Bacino CA, Chu Z, Merkley T, Traipe E, Hunter JV, Wilde EA. Phenotypic characterization in Angelman syndrome using advanced neuroimaging techniques. Paper presented at: The annual meeting of The American College of Medical Genetics; March 27, 2009; Tampa, Florida.
  39. Tan W, Bacino C, Skinner S, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet A, Bichell T, Gentile J, Glaze D, Horowitz L, Lee H, Nespeca M, Peters S, Sahoo T, Sarco D, Waisbren S, Bird L.
  40. Clinical features in 102 patients with Angelman syndrome. Paper presented at: American College of Medical Genetics 2009 Annual Clinical Meeting; March 27, 2009; Tampa, Florida.
  41. Bacino C, Peters S, Beaudet A, Bird L, Barbieri-Welge R, Bichell T, Sahoo T. Deletion classes in Angelman syndrome: genotype-phenotype correlations. Paper presented at: Biennial Angelman Syndrome Foundation conference; June 28, 2010; Anaheim, CA.

Journal Articles

  1. Weeber EJ, Jiang YH, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL, Sweatt JD. Derangements of hippocampal calcium/calmodulindependent protein kinase II in a mouse model for Angelman mental retardation syndrome. J. Neurosci. Apr 1 2003;23(7):2634-2644. PMID: 12684449
  2. Shapira NA, Lessig MC, Lewis MH, Goodman WK, Driscoll DJ. Effects of topiramate in adults with Prader-Willi syndrome. Am. J. Ment. Retard. Jul 2004;109(4):301-309. PMID: 15176917
  3. Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA. Cognitive and adaptive behavior profiles of children with Angelman syndrome. Am. J. Med. Genet. A. Jul 15 2004;128A(2):110-113. PMID: 15213998
  4. Jiang YH, Beaudet AL. Human disorders of ubiquitination and proteasomal degradation. Curr. Opin. Pediatr. Aug 2004;16(4):419-426. PMID: 15273504
  5. Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in Angelman syndrome: implications for autism research. Clin. Genet. Dec 2004;66(6):530-536. PMID: 15521981
  6. Rodriguez-Jato S, Nicholls RD, Driscoll DJ, Yang TP. Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. Nucleic Acids Res. 2005;33(15):47404753. PMID: 16116039, PMCID: PMC1188517
  7. Bittel DC, Kibiryeva N, Talebizadeh Z, Driscoll DJ, Butler MG. Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. Genomics. Jan 2005;85(1):85-91. PMID: 15607424
  8. Shapira NA, Lessig MC, He AG, James GA, Driscoll DJ, Liu Y. Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI. J. Neurol. Neurosurg. Psychiatry. Feb 2005;76(2):260-262. PMID: 15654046, PMCID: PMC1739487
  9. Talebizadeh Z, Kibiryeva N, Bittel DC, Butler MG. Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome. Int. J. Mol. Med. Apr 2005;15(4):707-711. PMID: 15754036
  10. Talebizadeh Z, Butler MG. Insulin resistance and obesity-related factors in Prader-Willi syndrome: comparison with obese subjects. Clin. Genet. Mar 2005;67(3):230-239. PMID: 15691361
  11. Hartley SL, Maclean WE, Jr., Butler MG, Zarcone J, Thompson T. Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome. Am. J. Med. Genet. A. Jul 15 2005;136(2):140-145. PMID: 15940679, PMCID: PMC1896317
  12. Bittel DC, Butler MG. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med. Jul 25 2005;7(14):1-20. PMID: 16038620
  13. Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL. Arraybased comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am. J. Med. Genet. A. Dec 1 2005;139A(2):106-113. PMID: 16284940
  14. Sellinger MH, Hodapp RM, Dykens E. Leisure activities in individuals with Prader-Willi, Williams, and Down syndromes. Journal of Developmental and Physical Disabilities. 2006;18(1):59-71.
  15. Young J, Zarcone J, Holsen L, Anderson MC, Hall S, Richman D, Butler MG, Thompson T. A measure of food seeking in individuals with Prader-Willi syndrome. J. Intellect. Disabil. Res. Jan 2006;50(Pt 1):18-24. PMID: 16316427, PMCID: PMC1535345
  16. Kennedy L, Bittel DC, Kibiryeva N, Kalra SP, Torto R, Butler MG. Circulating adiponectin levels, body composition and obesity-related variables in Prader-Willi syndrome: comparison with obese subjects. Int. J. Obes. Feb 2006;30(2):382-387. PMID: 16231029
  17. Miller J, Silverstein J, Shuster J, Driscoll DJ, Wagner M. Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. J. Clin. Endocrinol. Metab. Feb 2006;91(2):413-417. PMID: 16317059
  18. Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am. J. Med. Genet. A. Mar 1 2006;140(5):413-418. PMID: 16470747
  19. Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA. Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. J. Med. Genet. Jun 2006;43(6):512-516. PMID: 16183798, PMCID: PMC2564536
  20. Miller J, Kranzler J, Liu Y, Schmalfuss I, Theriaque DW, Shuster JJ, Hatfield A, Mueller OT, Goldstone AP, Sahoo T, Beaudet AL, Driscoll DJ. Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity. J. Pediatr. Aug 2006;149(2):192-198. PMID: 16887432
  21. Bittel DC, Kibiryeva N, Butler MG. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics. Oct 2006;118(4):e12761283. PMID: 16982806
  22. Theodoro MF, Talebizadeh Z, Butler MG. Body composition and fatness patterns in Prader-Willi syndrome: comparison with simple obesity. Obesity (Silver Spring). Oct 2006;14(10):1685-1690. PMID: 17062796
  23. Wu MY, Tsai TF, Beaudet AL. Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain. Genes Dev. Oct 15 2006;20(20):2859-2870. PMID: 17043311, PMCID: PMC1619944
  24. Butler MG. Management of obesity in Prader-Willi syndrome. Nat. Clin. Pract. Endocrinol. Metab. Nov 2006;2(11):592-593. PMID: 17082801
  25. Lawson-Yuen A, Wu BL, Lip V, Sahoo T, Kimonis V. Atypical cases of Angelman syndrome. Am. J. Med. Genet. A. Nov 1 2006;140(21):2361-2364. PMID: 17036311
  26. van Woerden GM, Harris KD, Hojjati MR, Gustin RM, Qiu S, de Avila Freire R, Jiang YH, Elgersma Y, Weeber EJ. Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. Nat. Neurosci. Mar 2007;10(3):280-282. PMID: 17259980
  27. Bittel DC, Kibiryeva N, Sell SM, Strong TV, Butler MG. Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Am. J. Med. Genet. A. Mar 1 2007;143(5):430-442. PMID: 17236194
  28. Bittel DC, Kibiryeva N, McNulty SG, Driscoll DJ, Butler MG, White RA. Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome. Am. J. Med. Genet. A. Mar 1 2007;143(5):422-429. PMID: 17036336
  29. Butler MG, Bittel DC. Plasma obestatin and ghrelin levels in subjects with Prader-Willi syndrome. Am. J. Med. Genet. A. Mar 1 2007;143(5):415-421. PMID: 17304548
  30. Butler MG, Theodoro M, Skouse JD. Thyroid function studies in Prader-Willi syndrome. Am. J. Med. Genet. A. Mar 1 2007;143(5):488-492. PMID: 17304546
  31. Butler MG, Theodoro MF, Bittel DC, Donnelly JE. Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects. Am. J. Med. Genet. A. Mar 1 2007;143(5):449-459. PMID: 17103434
  32. Butler MG, Theodoro MF, Bittel DC, Kuipers PJ, Driscoll DJ, Talebizadeh Z. X-chromosome inactivation patterns in females with Prader-Willi syndrome. Am. J. Med. Genet. A. Mar 1 2007;143(5):469-475. PMID: 17036338
  33. Miller JL, Couch JA, Schmalfuss I, He G, Liu Y, Driscoll DJ. Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. Am. J. Med. Genet. A. Mar 1 2007;143(5):476-483. PMID: 17103438
  34. Stevenson DA, Heinemann J, Angulo M, Butler MG, Loker J, Rupe N, Kendell P, Clericuzio CL, Scheimann AO. Deaths due to choking in Prader-Willi syndrome. Am. J. Med. Genet. A. Mar 1 2007;143(5):484-487. PMID: 17036318, PMCID: PMC3243066
  35. Khalil AM, Driscoll DJ. Trimethylation of histone H3 lysine 4 is an epigenetic mark at regions escaping mammalian X inactivation. Epigenetics. Apr-Jun 2007;2(2):114-118. PMID: 17965609
  36. Miller JL, James GA, Goldstone AP, Couch JA, He G, Driscoll DJ, Liu Y. Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader-Willi syndrome. J. Neurol. Neurosurg. Psychiatry. Jun 2007;78(6):615-619. PMID: 17158560, PMCID: PMC2077944
  37. Zarcone J, Napolitano D, Peterson C, Breidbord J, Ferraioli S, Caruso-Anderson M, Holsen L, Butler MG, Thompson T. The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome. J. Intellect. Disabil. Res. Jun 2007;51(Pt. 6):478-487. PMID: 17493030
  38. Dykens EM, Maxwell MA, Pantino E, Kossler R, Roof E. Assessment of hyperphagia in PraderWilli syndrome. Obesity (Silver Spring). Jul 2007;15(7):1816-1826. PMID: 17636101
  39. Miller JL, Couch JA, Leonard CM, Schwenk K, Towler SD, Shuster J, Goldstone AP, He G, Driscoll DJ, Liu Y. Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity. Genet. Med. Aug 2007;9(8):536-543. PMID: 17700392
  40. Stevenson DA, Heinemann J, Angulo M, Butler MG, Loker J, Rupe N, Kendell P, Cassidy SB, Scheimann A. Gastric rupture and necrosis in Prader-Willi syndrome. J. Pediatr. Gastroenterol. Nutr. Aug 2007;45(2):272-274. PMID: 17667731, PMCID: PMC3241991
  41. Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur. J. Hum. Genet. Sep 2007;15(9):943-949. PMID: 17522620
  42. Bittel DC, Kibiryeva N, Butler MG. Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities. Genet. Test. Winter 2007;11(4):467-475. PMID: 18294067
  43. Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. BMC Genomics. 2008;9:50. PMID: 18226259, PMCID: PMC2268926
  44. Scheimann AO, Butler MG, Gourash L, Cuffari C, Klish W. Critical analysis of bariatric procedures in Prader-Willi syndrome. J. Pediatr. Gastroenterol. Nutr. Jan 2008;46(1):80-83. PMID: 18162838
  45. Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum. Mol. Genet. Jan 1 2008;17(1):111-118. PMID: 17940072
  46. Brandau DT, Theodoro M, Garg U, Butler MG. Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader-Willi syndrome. Am. J. Med. Genet. A. Mar 1 2008;146A(5):665-669. PMID: 18241068
  47. Butler MG, Fischer W, Kibiryeva N, Bittel DC. Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am. J. Med. Genet. A. Apr 1 2008;146(7):854-860. PMID: 18266248
  48. Key AP, Dykens EM. 'Hungry Eyes': visual processing of food images in adults with Prader-Willi syndrome. J. Intellect. Disabil. Res. Jun 2008;52(Pt 6):536-546. PMID: 18422527
  49. Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat. Genet. Jun 2008;40(6):719-721. PMID: 18500341, PMCID: PMC2705197
  50. Haas KF, Broadie K. Roles of ubiquitination at the synapse. Biochim. Biophys. Acta. Aug 2008;1779(8):495-506. PMID: 18222124, PMCID: PMC2668815
  51. Dykens EM, Roof E. Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age. J. Child Psychol. Psychiatry. Sep 2008;49(9):1001-1008. PMID: 18665884
  52. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M. Recommendations for the diagnosis and management of Prader-Willi syndrome. J. Clin. Endocrinol. Metab. Nov 2008;93(11):4183-4197. PMID: 18697869
  53. Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur. J. Hum. Genet. Jan 2009;17(1):3-13. PMID: 18781185, PMCID: PMC2985966
  54. Holsen LM, Zarcone JR, Chambers R, Butler MG, Bittel DC, Brooks WM, Thompson TI, Savage CR. Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome. Int. J. Obes. Feb 2009;33(2):273-283. PMID: 19048015, PMCID: PMC2643328
  55. Butler MG, Brandau DT, Theodoro M, Garg U. Cortisol levels in Prader-Willi syndrome support changes in routine care. Am. J. Med. Genet. A. Feb 2009;149A(2):138-139. PMID: 19133690
  56. Scheimann A, Butler MG, Stevenson D, Miller JL, Cuffari C, Klish WJ. "Efficacy of laparoscopic sleeve gastrectomy as a stand-alone technique for children with morbid obesity" and "BioEnterics intragastric balloon for treatment of morbid obesity in Prader-Willi syndrome: specific risks and benefits". Obes. Surg. May 2009;19(5):671-672; author reply 673. PMID: 18982398
  57. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J. Med. Genet. Jun 2009;46(6):382-388. PMID: 19289393, PMCID: PMC2776649
  58. Butler MG, Brandau DT, Theodoro MF, Garg U. Morning melatonin levels in Prader-Willi syndrome. Am. J. Med. Genet. A. Aug 2009;149A(8):1809-1813. PMID: 19606476
  59. Geer JS, Skinner SA, Goldin E, Holden KR. Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder. Pediatr. Neurol. Mar 2010;42(3):223-226. PMID: 20159435, PMCID: PMC2824620
  60. Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J. Dev. Behav. Pediatr. Sep 2010;31(7):592-601. PMID: 20729760, PMCID: PMC2997715
  61. Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Angelman syndrome: Mutations influence features in early childhood. Am. J. Med. Genet. A. Jan 2011;155A(1):81-90. PMID: 21204213, PMCID: PMC3563320
  62. Peters SU, Kaufmann WE, Bacino CA, Anderson AW, Adapa P, Chu Z, Yallampalli R, Traipe E, Hunter JV, Wilde EA. Alterations in white matter pathways in Angelman syndrome. Dev. Med. Child Neurol. Apr 2011;53(4):361-367. PMID: 21121904, PMCID: PMC3059217
  63. Butler MG, Sturich J, Lee J, Myers SE, Whitman BY, Gold JA, Kimonis V, Scheimann A, Terrazas N, Driscoll DJ. Growth standards of infants with Prader-Willi syndrome. Pediatrics. Apr 2011;127(4):687-695. PMID: 21402637, PMCID: PMC3065075
  64. Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold JA, Kimonis V, Dykens E, Butler MG, Shuster JJ, Driscoll DJ. Nutritional phases in Prader-Willi syndrome. Am. J. Med. Genet. A. May 2011;155A(5):1040-1049. PMID: 21465655, PMCID: PMC3285445
  65. Dykens EM, Roof E, Bittel D, Butler MG. TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader-Willi syndrome. J. Child Psychol. Psychiatry. May 2011;52(5):580-587. PMID: 21418060, PMCID: PMC3353323
  66. Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am. J. Med. Genet. A. Dec 2011;155A(12):2956-2963. PMID: 22002941, PMCID: PMC3222728
  67. Beaudet AL. Angelman syndrome: Drugs to awaken a paternal gene. Nature. Jan 12 2012;481(7380):150-152. PMID: 22190038, PMCID: PMC3638729
  68. Peters SU, Horowitz L, Barbieri-Welge R, Taylor JL, Hundley RJ. Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class. J. Child Psychol. Psychiatry. Feb 2012;53(2):152-159. PMID: 21831244
  69. Kim SJ, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, Driscoll DJ. Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur. J. Hum. Genet. Mar 2012;20(3):283-290. PMID: 22045295, PMCID: PMC3283188
  70. Henkhaus RS, Kim SJ, Kimonis VE, Gold JA, Dykens EM, Driscoll DJ, Butler MG. Methylationspecific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genetic testing and molecular biomarkers. Mar 2012;16(3):178-186. PMID: 21977908, PMCID: PMC3306590
  71. Vendrame M, Loddenkemper T, Zarowski M, Gregas M, Shuhaiber H, Sarco DP, Morales A, Nespeca M, Sharpe C, Haas K, Barnes G, Glaze D, Kothare SV. Analysis of EEG patterns and genotypes in patients with Angelman syndrome. Epilepsy Behav. Mar 2012;23(3):261-265. PMID: 22341959
  72. Meng L, Person RE, Beaudet AL. Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. Hum. Mol. Genet. Jul 1 2012;21(13):3001-3012. PMID: 22493002, PMCID: PMC3465693
  73. Rethmeyer JA, Tan X, Manzardo A, Schroeder SR, Butler MG. Comparison of biological specimens and DNA collection methods for PCR amplification and microarray analysis. Clin. Chem. Lab. Med. May 2013;51(5):e79-83. PMID: 23241593, PMCID: PMC3660108
  74. Butler MG, Roberts J, Hayes J, Tan X, Manzardo AM. Growth hormone receptor (GHR) gene polymorphism and Prader-Willi syndrome. Am. J. Med. Genet. A. Jul 2013;161A(7):1647-1653. PMID: 23696513, PMCID: PMC3689873
  75. Yazdi PG, Su H, Ghimbovschi S, et al. Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of prader-willi syndrome. Clin. Transl. Sci. Oct 2013;6(5):347-355. PMID: 24127921, PMCID: PMC3815468
  76. Dykens EM. Leisure activities in Prader-Wili syndrome: implications for health, cognition and adaptive functioning. J. Autism Dev. Disord. Feb 2014;44(2):294-302. PMID: 22484792, PMCID: PMC3473107
  77. Heymsfield SB, Avena NM, Baier L, et al. Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia. Obesity (Silver Spring, Md.). Feb 2014;22 Suppl 1:S1-S17. PMID: 24574081, PMCID: PMC4159941
  78. Khare M, Gold JA, Wencel M, et al. Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome. J. Pediatr. Endocrinol. Metab. May 2014;27(5-6):511-518. PMID: 24515997
  79. Butler MG, Wang K, Marshall JD, et al. Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alstrom syndromes. Advances in genomics and genetics. 2015;2015(5):53-75. PMID: 25705109, PMCID: PMC4334166
  80. Butler MG, Lee J, Manzardo AM, et al. Growth charts for non-growth hormone treated praderwilli syndrome. Pediatrics. Jan 2015;135(1):e126-135. PMID: 25489013, PMCID: PMC4279067
  81. Kweh FA, Miller JL, Sulsona CR, et al. Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia. Am. J. Med. Genet. A. Jan 2015;167A(1):69-79. PMID: 25355237, PMCID: PMC4391201
  82. Miodrag N, Peters S. Parent stress across molecular subtypes of children with Angelman syndrome. J. Intellect. Disabil. Res. Sep 2015;59(9):816-826. PMID: 25833412
  83. Miller JL, Tamura R, Butler MG, et al. Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study. Am J Med Genet A. 2017;173(5):1243-1250. PMID: 28371242

Special Projects

  1. Williams CA, Dagli A. Angelman Syndrome. 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=angelman.
  2. Butler MG, Welch J, Riske M, Vogel R, Troxell R, Rope A. Prader-Willi Syndrome. Medical Home Portal 2009; http://www.medicalhomeportal.org/diagnoses-and-conditions/prader-willisyndrome/description

Book Chapters

  1. Biaggioni I. Postural hypotension. In: Lebovitz H, ed. Therapy of Diabetes Mellitus and Related Disorders. 5 ed. Alexandria, VA: American Diabetes Association, Inc.; 2009.
  2. Biaggioni I, Kaufmann H. Postural Hypotension. In: Chaudhuri R, Tolosa E, Shapira A, Poewe W, eds. Non-Motor Symptoms of Parkinson’s Disease. New York, NY: Oxford University Press; 2009.
  3. Biaggioni I, Robertson D. Adrenoceptor agonists and sympathomimetics drugs. In: Katzung B, ed. Basic and Clinical Pharmacology. 11 ed. New York, NY: Lang Basic Science; 2009.
  4. Robertson D, Biaggioni I. Adrenoceptor antagonist drugs. In: Katzung B, ed. Basic and Clinical Pharmacology. 11 ed. New York, NY: Lange Basic Science; 2009.
  5. Kaufmann H, Biaggioni I. Disorders of the autonomic nervous system. In: Filit H, Rockwood K, Woodhouse K, eds. Brocklehurst’s textbook of geriatric medicine and gerontology. Philadelphia, PA: Saunders Elsevier; 2010.
  6. Arnold AC, Diz D. Renin-Angiotensin. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  7. Gamboa A. Nitric Oxide and Autonomic Regulation. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  8. Garland EM. Dopamine Beta-Hydroxylase Deficiency. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  9. Gibbons CH, Freeman R. Cutaneous Autonomic Innervation: Assessment by Skin Biopsy. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  10. Gibbons CH, Freeman R. Delayed Orthostatic Hypotension. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  11. Gilden JL. Midodrine, Adrenergic Agonists and Antagonists. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  12. Goldstein DS. Noradrenergic Neurotransmission. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  13. Goldstein DS. Clinical Sympathetic Imaging. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  14. Hahn MK. Antidepressant-Sensitive Norepinephrine Transporters: Structure and Regulation. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  15. Hahn MK. Norepinephrine Transporter Deficiency. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  16. Joos KM, Melson MR. Control of the Pupil. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  17. Kaufmann H. Droxidopa (L-DOPS). In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  18. Kaufmann H, Norcliffe-Kaufmann L, Axelrod F. Familial Dysautonomia (Riley-Day Syndrome). In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  19. Kaufmann H, Schatz I. Pure Autonomic Failure. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  20. Low PA. Sweating. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  21. Low PA, McLeod JG. Guillain-Barré Syndrome. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  22. Low PA, Sandroni P. Postural Tachycardia Syndrome (POTS). In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  23. Okamato LE, Raj SR, Biaggioni I. Chronic Fatigue Syndrome and the Autonomic Nervous System. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  24. Peltier AC. Diagnostic Workup of Peripheral Neuropathies with Dysautonomia. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  25. Peltier AC, Davis SN. Diagnostic Workup of Peripheral Neuropathies with Dysautonomia. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  26. Raj SR. Neurally Mediated Syncope. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  27. Raj SR. Tilt Table Studies. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  28. Raj SR. Mechanisms of Postural Tachycardia. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  29. Robertson D. Orthostatic Hypertension. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  30. Robertson D, Gilman S. Multiple System Atrophy. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  31. Robertson D, Robertson RM. Fludrocortisone. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  32. Robertson D, Sato K. Stress Cardiomyopathy and Takotsubo Syndrome. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  33. Sandroni P. Clinical Evaluation of Autonomic Disorders. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  34. Sato T, Diedrich A, Sunagawa K. Bionic Baroreflex. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  35. Shibao C. Obesity-Associated Hypertension. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  36. Shibao C. Acarbose. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  37. Shibao C, Okamato LE. Agents Potentiating Sympathetic Tone. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  38. Stein CM. Beta-Adrenergic Receptors. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  39. Vernino S, Low P. Autoimmune Autonomic Gangionopathy. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2011.
  40. Biaggioni I. Adenosine Receptors and Autonomic Regulation. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2012.
  41. Biaggioni I. Genetic Determinants of Baroreflex Function. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2012.
  42. Biaggioni I. Erythropoietin in Autonomic Failure. In: Robertson D, Biaggioni I, Burnstock G, Low PA, Paton JFR, eds. Primer on the Autonomic Nervous System. 3rd ed: Academic Press; 2012.
  43. Biaggioni I, Robertson D. Adrenoceptor agonists and sympathomimetics drugs. In: Katzung B, ed. Basic and Clinical Pharmacology. 12 ed. New York, NY: Lange Basic Science; 2012.
  44. Freeman R. Autonomic Peripheral Neuropathy. In: Donofrio P, ed. Textbook of Peripheral Neuropathy. New York: Demos Medical; 2012:421-438.
  45. Freeman R. Pharmacotherapy of Neuropathic Pain. In: Simpson D, McArthur J, Dworkin R, eds. Neuropathic Pain: Mechanisms and Management. New York, NY: Oxford University Press; 2012.
  46. Robertson D, Biaggioni I. Adrenoceptor antagonist drugs. In: Katzung B, ed. Basic and Clinical Pharmacology. 12 ed. New York, NY: Lange Basic Science; 2012.
  47. Robertson D, Biaggioni I, Burstock G, Low P, Paton J. Primer on the Autonomic Nervous System. 3 ed. Oxford: Elsevier Academic Press; 2012.

Journal Articles

  1. Goldstein DS, Eldadah BA, Holmes C, Pechnik S, Moak J, Saleem A, Sharabi Y. Neurocirculatory abnormalities in Parkinson disease with orthostatic hypotension: independence from levodopa treatment. Hypertension. Dec 2005;46(6):1333-1339. PMID: 16216982
  2. Goldstein DS. Orthostatic hypotension as an early finding in Parkinson's disease. Clin. Auton. Res. Feb 2006;16(1):46-54. PMID: 16477495
  3. Goldstein DS. Cardiac denervation in patients with Parkinson disease. Cleve. Clin. J. Med. Feb 2007;74 Suppl 1:S91-94. PMID: 17455553
  4. Goldstein DS, Holmes C, Sato T, Bernson M, Mizrahi N, Imrich R, Carmona G, Sharabi Y, Vortmeyer AO. Central dopamine deficiency in pure autonomic failure. Clin. Auton. Res. Apr 2008;18(2):58-65. PMID: 18363034
  5. Goldstein DS, Holmes C, Bentho O, Sato T, Moak J, Sharabi Y, Imrich R, Conant S, Eldadah BA. Biomarkers to detect central dopamine deficiency and distinguish Parkinson disease from multiple system atrophy. Parkinsonism Relat. Disord. Dec 2008;14(8):600-607. PMID: 18325818, PMCID: PMC2650101
  6. Goldstein DS, Sharabi Y. Neurogenic orthostatic hypotension: a pathophysiological approach. Circulation. Jan 6 2009;119(1):139-146. PMID: 19124673, PMCID: PMC4182314
  7. Okamoto LE, Gamboa A, Shibao C, Black BK, Diedrich A, Raj SR, Robertson D, Biaggioni I. Nocturnal blood pressure dipping in the hypertension of autonomic failure. Hypertension. Feb 2009;53(2):363-369. PMID: 19047577, PMCID: PMC2665259
  8. Raj V, Haman KL, Raj SR, Byrne D, Blakely RD, Biaggioni I, Robertson D, Shelton RC. Psychiatric profile and attention deficits in postural tachycardia syndrome. J. Neurol. Neurosurg. Psychiatry. Mar 2009;80(3):339-344. PMID: 18977825, PMCID: PMC2758320
  9. Goldstein DS, Sewell L. Olfactory dysfunction in pure autonomic failure: Implications for the pathogenesis of Lewy body diseases. Parkinsonism Relat. Disord. Aug 2009;15(7):516-520. PMID: 19201246, PMCID: PMC4164391
  10. Raj SR, Black BK, Biaggioni I, Paranjape SY, Ramirez M, Dupont WD, Robertson D. Propranolol decreases tachycardia and improves symptoms in the postural tachycardia syndrome: less is more. Circulation. Sep 1 2009;120(9):725-734. PMID: 9687359, PMCID: PMC2758650
  11. Garland EM, Gamboa A, Okamoto L, Raj SR, Black BK, Davis TL, Biaggioni I, Robertson D. Renal impairment of pure autonomic failure. Hypertension. Nov 2009;54(5):1057-1061. PMID: 19738158, PMCID: PMC2796115
  12. Tellez MJ, Norcliffe-Kaufmann LJ, Lenina S, Voustianiouk A, Kaufmann H. Usefulness of tiltinduced heart rate changes in the differential diagnosis of vasovagal syncope and chronic autonomic failure. Clin. Auton. Res. Dec 2009;19(6):375-380. PMID: 19834645
  13. Goldstein DS, Sewell L, Holmes C. Association of anosmia with autonomic failure in Parkinson disease. Neurology. Jan 19 2010;74(3):245-251. PMID: 20083801, PMCID: PMC2809034
  14. Kaufmann H, Goldstein DS. Pure autonomic failure: a restricted Lewy body synucleinopathy or early Parkinson disease? Neurology. Feb 16 2010;74(7):536-537. PMID: 20157156
  15. Peltier AC, Black BK, Raj SR, Donofrio P, Robertson D, Biaggioni I. Coexistent autoimmune autonomic ganglionopathy and myasthenia gravis associated with non-small-cell lung cancer. Muscle Nerve. Mar 2010;41(3):416-419. PMID: 19882640, PMCID: PMC3925506
  16. Mustafa HI, Robertson D. Beyond postural tachycardia syndrome. J. Neurol. Neurosurg. Psychiatry. Mar 2010;81(3):237-238. PMID: 20185461, PMCID: PMC3848708
  17. Peltier AC, Garland E, Raj SR, Sato K, Black B, Song Y, Wang L, Biaggioni I, Diedrich A, Robertson D. Distal sudomotor findings in postural tachycardia syndrome. Clin. Auton. Res. Apr 2010;20(2):93-99. PMID: 20035362, PMCID: PMC3089763
  18. Figueroa JJ, Basford JR, Low PA. Preventing and treating orthostatic hypotension: As easy as A, B, C. Cleve. Clin. J. Med. May 2010;77(5):298-306. PMID: 20439562, PMCID: PMC2888469
  19. Martinez JM, Garakani A, Kaufmann H, Aaronson CJ, Gorman JM. Heart rate and blood pressure changes during autonomic nervous system challenge in panic disorder patients. Psychosom. Med. Jun 2010;72(5):442-449. PMID: 20368476
  20. McHugh J, Keller NR, Appalsamy M, Thomas SA, Raj SR, Diedrich A, Biaggioni I, Jordan J, Robertson D. Portal osmopressor mechanism linked to transient receptor potential vanilloid 4 and blood pressure control. Hypertension. Jun 2010;55(6):1438-1443. PMID: 20385965, PMCID: PMC2965336
  21. Kimpinski K, Iodice V, Low PA. Postural Tachycardia Syndrome associated with peripartum cardiomyopathy. Auton. Neurosci. Jun 24 2010;155(1-2):130-131. PMID: 20167544, PMCID: PMC2878873
  22. Kimpinski K, Iodice V, Sandroni P, Low PA. Effect of pregnancy on postural tachycardia syndrome. Mayo Clin. Proc. Jul 2010;85(7):639-644. PMID: 20516426, PMCID: PMC2894719
  23. Norcliffe-Kaufmann L, Gonzalez-Duarte A, Martinez J, Kaufmann H. Tachyarrythmias with elevated cardiac enzymes in Munchausen syndrome. Clin. Auton. Res. Aug 2010;20(4):259-261. PMID: 20424883
  24. Rekhtman Y, Bomback AS, Nash MA, et al. Renal transplantation in familial dysautonomia: report of two cases and review of the literature. Clin. J. Am. Soc. Nephrol. Sep 2010;5(9):16761680. PMID: 20558564, PMCID: PMC2974411
  25. Shibao C, Okamoto LE, Gamboa A, et al. Comparative efficacy of yohimbine against pyridostigmine for the treatment of orthostatic hypotension in autonomic failure. Hypertension. Nov 2010;56(5):847-851. PMID: 20837887, PMCID: PMC2959129
  26. Norcliffe-Kaufmann L, Axelrod F, Kaufmann H. Afferent baroreflex failure in familial dysautonomia. Neurology. Nov 23 2010;75(21):1904-1911. PMID: 21098405, PMCID: PMC2995385
  27. Graber JJ, Sherman FT, Kaufmann H, Kolodny EH, Sathe S. Vitamin B12-responsive severe leukoencephalopathy and autonomic dysfunction in a patient with "normal" serum B12 levels. J. Neurol. Neurosurg. Psychiatry. Dec 2010;81(12):1369-1371. PMID: 20587489
  28. Shibao C, Biaggioni I. Orthostatic hypotension and cardiovascular risk. Hypertension. Dec 2010;56(6):1042-1044. PMID: 21059992, PMCID: PMC3752681
  29. Sletten DM, Kimpinski K, Weigand SD, Low PA. Comparison of a gel versus solution-based vehicle for the delivery of acetylcholine in QSART. Auton. Neurosci. Dec 8 2010;158(1-2):123126. PMID: 20547476, PMCID: PMC2976794
  30. Norcliffe-Kaufmann LJ, Reynolds HR. Afferent baroreflex failure and tako-tsubo cardiomyopathy. Clin. Auton. Res. Feb 2011;21(1):1-2. PMID: 21240537
  31. Garland EM, Raj SR, Peltier AC, Robertson D, Biaggioni I. A cross-sectional study contrasting olfactory function in autonomic disorders. Neurology. Feb 1 2011;76(5):456-460. PMID: 21282592, PMCID: PMC3034411
  32. Hollenbeck R, Black BK, Peltier AC, Biaggioni I, Robertson D, Winton EF, Raj SR. Long-term treatment with rituximab of autoimmune autonomic ganglionopathy in a patient with lymphoma. Arch. Neurol. Mar 2011;68(3):372-375. PMID: 21059985, PMC3725638
  33. Mustafa HI, Garland EM, Biaggioni I, Black BK, Dupont WD, Robertson D, Raj SR. Abnormalities of angiotensin regulation in postural tachycardia syndrome. Heart Rhythm. Mar 2011;8(3):422428. PMID: 21266211, PMCID: PMC3050076
  34. Kim CH, Leung A, Huh YH, Yang E, Kim DJ, Leblanc P, Ryu H, Kim K, Kim DW, Garland EM, Raj SR, Biaggioni I, Robertson D, Kim KS. Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase. J. Biol. Chem. Mar 18 2011;286(11):9196-9204. PMID: 21209083, PMCID: PMC3059068
  35. Smith BA, Clayton EW, Robertson D. Experimental arrest of cerebral blood flow in human subjects: the red wing studies revisited. Perspect. Biol. Med. Spring 2011;54(2):121-131. PMID: 21532128, PMCID: PMC3848716
  36. Freeman R, Wieling W, Axelrod FB, et al. Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome. Clin. Auton. Res. Apr 2011;21(2):69-72. PMID: 21431947
  37. Wang N, Gibbons CH, Freeman R. Novel immunohistochemical techniques using discrete signal amplification systems for human cutaneous peripheral nerve fiber imaging. J. Histochem. Cytochem. Apr 2011;59(4):382-390. PMID: 21411809, PMCID: PMC3201146
  38. Bagai K, Song Y, Ling JF, Malow B, Black BK, Biaggioni I, Robertson D, Raj SR. Sleep disturbances and diminished quality of life in postural tachycardia syndrome. J. Clin. Sleep Med. Apr 15 2011;7(2):204-210. PMID: 21509337, PMCID: PMC3077350
  39. Chow DC, Wood R, Choi J, Grandinetti A, Gerschenson M, Sriratanaviriyakul N, Nakamoto B, Shikuma C, Low P. Cardiovagal autonomic function in HIV-infected patients with unsuppressed HIV viremia. HIV Clin. Trials. May-Jun 2011;12(3):141-150. PMID: 21684854, PMCID: 3175027
  40. Spallone V, Ziegler D, Freeman R, et al. Cardiovascular autonomic neuropathy in diabetes: clinical impact, assessment, diagnosis, and management. Diabetes Metab. Res. Rev. Jun 22 2011. PMID: 21695768
  41. Gonzalez-Duarte A, Norcliffe-Kaufmann L, Martinez J, et al. Cardiovascular and neuroendocrine features of Panayiotopoulos syndrome in three siblings. Epilepsy Behav. Jul 2011;21(3):296300. PMID: 21474385
  42. Jepma M, Deinum J, Asplund CL, Rombouts SA, Tamsma JT, Tjeerdema N, Spape MM, Garland EM, Robertson D, Lenders JW, Nieuwenhuis S. Neurocognitive function in dopamine-betahydroxylase deficiency. Neuropsychopharmacology. Jul 2011;36(8):1608-1619. PMID: 21471955, PMCID: PMC3138665
  43. Kempler P, Amarenco G, Freeman R, et al. Gastrointestinal autonomic neuropathy, erectile-, bladder- and sudomotor dysfunction in patients with diabetes mellitus: clinical impact, assessment, diagnosis, and management. Diabetes Metab. Res. Rev. Jul 11 2011. PMID: 21748841
  44. Halbig TD, Creighton J, Assuras S, Borod JC, Tse W, Gracies JM, Foldi NS, Kaufmann H, Olanow CW, Voustianiouk A. Preserved emotional modulation of motor response time despite psychomotor slowing in young-old adults. Int. J. Neurosci. Aug 2011;121(8):430-436. PMID: 21574890
  45. Wan DW, Levy J, Ginsburg HB, Kaufmann H, Axelrod FB. Complicated peptic ulcer disease in three patients with familial dysautonomia. J. Clin. Gastroenterol. Aug 2011;45(7):611-613. PMID: 20930641
  46. Pavy-Le Traon A, Amarenco G, Duerr S, et al. The Movement Disorders task force review of dysautonomia rating scales in Parkinson's disease with regard to symptoms of orthostatic hypotension. Mov. Disord. Sep 2011;26(11):1985-1992. PMID: 21547951
  47. Miglis MG, Racela R, Kaufmann H. Seropositive myasthenia and autoimmune autonomic ganglionopathy: cross reactivity or subclinical disease? Auton. Neurosci. Oct 28 2011;164(12):87-88. PMID: 21745762
  48. Macefield VG, Norcliffe-Kaufmann L, Gutierrez J, Axelrod FB, Kaufmann H. Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome? Brain. Nov 2011;134(Pt 11):3198-3208. PMID: 22075519, PMCID: PMC3212710
  49. Axelrod FB, Liebes L, Gold-Von Simson G, Mendoza S, Mull J, Leyne M, Norcliffe-Kaufmann L, Kaufmann H, Slaugenhaupt SA. Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia. Pediatr. Res. Nov 2011;70(5):480-483. PMID: 21775922, PMCID: PMC3189334
  50. Ubhi K, Low P, Masliah E. Multiple system atrophy: a clinical and neuropathological perspective. Trends Neurosci. Nov 2011;34(11):581-590. PMID: 21962754, PMCID: PMC3200496
  51. Mustafa HI, Fessel JP, Barwise J, Shannon JR, Raj SR, Diedrich A, Biaggioni I, Robertson D. Dysautonomia: perioperative implications. Anesthesiology. Jan 2012;116(1):205-215. PMID: 22143168, PMCID: PMC3296831
  52. Brewster JA, Garland EM, Biaggioni I, Black BK, Ling JF, Shibao CA, Robertson D, Raj SR. Diurnal variability in orthostatic tachycardia: implications for the postural tachycardia syndrome. Clinical science (London, England : 1979). Jan 2012;122(1):25-31. PMID: 21751966, PMCID: PMC3172399
  53. Biaggioni I. Interventional approaches to reduce sympathetic activity in resistant hypertension: to ablate or stimulate? Hypertension. Feb 2012;59(2):194-195. PMID: 22184323
  54. Singer W, Sletten DM, Opfer-Gehrking TL, Brands CK, Fischer PR, Low PA. Postural tachycardia in children and adolescents: what is abnormal? J. Pediatr. Feb 2012;160(2):222-226. PMID: 21996154, PMCID: PMC3258321
  55. Okamoto LE, Raj SR, Peltier A, Gamboa A, Shibao C, Diedrich A, Black BK, Robertson D, Biaggioni I. Neurohumoral and haemodynamic profile in postural tachycardia and chronic fatigue syndromes. Clinical science (London, England : 1979). Feb 2012;122(4):183-192. PMID: 21906029, PMCID: PMC3203411
  56. Mustafa HI, Raj SR, Diedrich A, Black BK, Paranjape SY, Dupont WD, Williams GH, Biaggioni I, Robertson D. Altered systemic hemodynamic and baroreflex response to angiotensin II in postural tachycardia syndrome. Circ. Arrhythm. Electrophysiol. Feb 1 2012;5(1):173-180. PMID: 22247480, PMCID: PMC3577936
  57. Wang Y, Shi M, Chung KA, et al. Phosphorylated alpha-synuclein in Parkinson's disease. Sci Transl Med. Feb 15 2012;4(121):121ra120. PMID: 22344688, PMCID: PMC3302662
  58. Mendoza-Santiesteban CE, Hedges TR, 3rd, Norcliffe-Kaufmann L, Warren F, Reddy S, Axelrod FB, Kaufmann H. Clinical neuro-ophthalmic findings in familial dysautonomia. J. Neuroophthalmol. Mar 2012;32(1):23-26. PMID: 21918475
  59. Okamoto LE, Shibao C, Gamboa A, Choi L, Diedrich A, Raj SR, Black BK, Robertson D, Biaggioni I. Synergistic effect of norepinephrine transporter blockade and alpha-2 antagonism on blood pressure in autonomic failure. Hypertension. Mar 2012;59(3):650-656. PMID: 22311903, PMCID: PMC3312003
  60. Figueroa JJ, Dyck PJ, Laughlin RS, Mercado JA, Massie R, Sandroni P, Low PA. Autonomic dysfunction in chronic inflammatory demyelinating polyradiculoneuropathy. Neurology. Mar 6 2012;78(10):702-708.PMID: 22357716, PMCID: PMC3306161
  61. Kaufmann H, Malamut R, Norcliffe-Kaufmann L, Rosa K, Freeman R. The Orthostatic Hypotension Questionnaire (OHQ): validation of a novel symptom assessment scale. Clin. Auton. Res. Apr 2012;22(2):79-90. PMID: 22045363
  62. Gamboa A, Okamoto LE, Diedrich A, et al. Sympathetic activation and nitric oxide function in early hypertension. Am. J. Physiol. Heart Circ. Physiol. Apr 1 2012;302(7):H1438-1443. PMID: 22287587, PMCID: PMC3330790
  63. Iodice V, Lipp A, Ahlskog JE, Sandroni P, Fealey RD, Parisi JE, Matsumoto JY, Benarroch EE, Kimpinski K, Singer W, Gehrking TL, Gehrking JA, Sletten DM, Schmeichel AM, Bower JH, Gilman S, Figueroa J, Low PA. Autopsy confirmed multiple system atrophy cases: Mayo experience and role of autonomic function tests. J. Neurol. Neurosurg. Psychiatry. Apr 2012;83(4):453-459. PMID: 22228725, PMCID: PMC3454474
  64. Gibbons CH, Centi J, Vernino S, Freeman R. Autoimmune autonomic ganglionopathy with reversible cognitive impairment. Arch. Neurol. Apr 2012;69(4):461-466. PMID: 22158721, PMCID: PMC3359761
  65. Kaufmann H, Malamut R, Norcliffe-Kaufmann L, Rosa K, Freeman R. The Orthostatic Hypotension Questionnaire (OHQ): validation of a novel symptom assessment scale. Clin. Auton. Res. Apr 2012;22(2):79-90. PMID: 22045363
  66. Muppidi S, Scribner M, Gibbons CH, Adams-Huet B, Spaeth EB, Vernino S. A Unique Manifestation of Pupillary Fatigue in Autoimmune Autonomic Ganglionopathy. Arch. Neurol. May 2012;69(5):644-648. PMID: 22232207, PMCID: PMC3433577
  67. Shibao C, Buchowski MS, Chen KY, Yu C, Biaggioni I. Chronic sympathetic attenuation and energy metabolism in autonomic failure. Hypertension. May 2012;59(5):985-990. PMID: 22469621, PMCID: PMC3383057
  68. Coffin ST, Black BK, Biaggioni I, Paranjape SY, Orozco C, Black PW, Dupont WD, Robertson D, Raj SR. Desmopressin acutely decreases tachycardia and improves symptoms in the postural tachycardia syndrome. Heart Rhythm. May 3 2012. PMID: 22561596, PMCID: PMC3419341
  69. Goldstein DS, Holmes C, Sharabi Y. Cerebrospinal fluid biomarkers of central catecholamine deficiency in Parkinson's disease and other synucleinopathies. Brain. Jun 2012;135(Pt 6):19001913. PMID: 22451506, PMCID: PMC3359749
  70. Jain S, Goldstein DS. Cardiovascular dysautonomia in Parkinson disease: from pathophysiology to pathogenesis. Neurobiol. Dis. Jun 2012;46(3):572-580. PMID: 22094370, PMCID: PMC3299874
  71. Shibao C, Okamoto L, Biaggioni I. Pharmacotherapy of autonomic failure. Pharmacol. Ther. Jun 2012;134(3):279-286. PMID: 21664375, PMCID: PMC3358114
  72. Kimpinski K, Iodice V, Sandroni P, Fealey RD, Vernino S, Low PA. Sudomotor dysfunction in autoimmune autonomic ganglionopathy: a follow-up study. Clin. Auton. Res. Jun 2012;22(3):131-136. PMID: 22127477, PMCID: PMC3469317
  73. Kimpinski K, Iodice V, Burton DD, Camilleri M, Mullan BP, Lipp A, Sandroni P, Gehrking TL, Sletten DM, Ahlskog JE, Fealey RD, Singer W, Low PA. The role of autonomic testing in the differentiation of Parkinson's disease from multiple system atrophy. J. Neurol. Sci. Jun 15 2012;317(1-2):92-96. PMID: 22421352, PMCID: PMC3340456
  74. Goldstein DS. Stress, allostatic load, catecholamines, and other neurotransmitters in neurodegenerative diseases. Cell. Mol. Neurobiol. Jul 2012;32(5):661-666. PMID: 22297542, PMCID: PMC4900164
  75. Lin X, Parisiadou L, Sgobio C, et al. Conditional expression of Parkinson's disease-related mutant alpha-synuclein in the midbrain dopaminergic neurons causes progressive neurodegeneration and degradation of transcription factor nuclear receptor related 1. J. Neurosci. Jul 4 2012;32(27):9248-9264. PMID: 22764233, PMCID: PMC3417246
  76. Kimpinski K, Figueroa JJ, Singer W, Sletten DM, Iodice V, Sandroni P, Fischer PR, Opfer-Gehrking TL, Gehrking JA, Low PA. A Prospective, 1-Year Follow-up Study of Postural Tachycardia Syndrome. Mayo Clin. Proc. Aug 2012;87(8):746-752. PMID: 22795533, PMCID: PMC3538485
  77. Swami SK, Liesinger JT, Shah N, Baddour LM, Banerjee R. Incidence of antibiotic-resistant Escherichia coli bacteriuria according to age and location of onset: a population-based study from Olmsted County, Minnesota. Mayo Clin. Proc. Aug 2012;87(8):753-759. PMID: 22795635, PMCID: PMC3538489
  78. Haddad MR, Macri CJ, Holmes CS, et al. In utero copper treatment for Menkes disease associated with a severe ATP7A mutation. Mol. Genet. Metab. Sep 2012;107(1-2):222-228. PMID: 22695177, PMCID: PMC3444639
  79. Kim JS, Oh YS, Lee KS, Kim YI, Yang DW, Goldstein DS. Association of cognitive dysfunction with neurocirculatory abnormalities in early Parkinson disease. Neurology. Sep 25 2012;79(13):1323-1331. PMID: 22972639, PMCID: PMC3448741
  80. Siepmann T, Gibbons CH, Illigens BM, Lafo JA, Brown CM, Freeman R. Quantitative pilomotor axon reflex test: a novel test of pilomotor function. Arch. Neurol. Nov 2012;69(11):1488-1492. PMID: 22868966, PMCID: PMC3563419
  81. Arnold AC, Biaggioni I. Management approaches to hypertension in autonomic failure. Curr. Opin. Nephrol. Hypertens. Sep 2012;21(5):481-485. PMID: 22801444, PMCID: PMC3732047
  82. Parsaik A, Allison TG, Singer W, Sletten DM, Joyner MJ, Benarroch EE, Low PA, Sandroni P. Deconditioning in patients with orthostatic intolerance. Neurology. Oct 2 2012;79(14):14351439. PMID: 22993288, PMCID: PMC3525293
  83. Axelrod FB, Rolnitzky L, Gold von Simson G, Berlin D, Kaufmann H. A rating scale for the functional assessment of patients with familial dysautonomia (Riley Day syndrome). J. Pediatr. Dec 2012;161(6):1160-1165. PMID: 22727867, PMCID: PMC3534733
  84. Goldstein DS, Sewell L, Holmes C, Pechnik S, Diedrich A, Robertson D. Temporary elimination of orthostatic hypotension by norepinephrine infusion. Clin. Auton. Res. Dec 2012;22(6):303-306. PMID: 22983778, PMCID: PMC4118053
  85. Sletten DM, Suarez GA, Low PA, Mandrekar J, Singer W. COMPASS 31: a refined and abbreviated Composite Autonomic Symptom Score. Mayo Clin. Proc. Dec 2012;87(12):11961201. PMID: 23218087, PMCID: PMC3541923
  86. Jordan J, Biaggioni I. Genetic influences on human baroreflex regulation. Auton. Neurosci. Dec 24 2012;172(1-2):23-25. PMID: 23167991
  87. Norcliffe-Kaufmann L, Kaufmann H. Familial dysautonomia (Riley-Day syndrome): when baroreceptor feedback fails. Auton. Neurosci. Dec 24 2012;172(1-2):26-30. PMID: 23178195 Kaufmann H, Goldstein DS. Autonomic dysfunction in Parkinson disease. Handbook of clinical neurology. 2013;117:259-278. PMID: 24095131
  88. Low PA, Tomalia VA, Park KJ. Autonomic function tests: some clinical applications. Journal of clinical neurology (Seoul, Korea). Jan 2013;9(1):1-8. PMID: 23346153, PMCID: PMC3543903
  89. Plash WB, Diedrich A, Biaggioni I, Garland EM, Paranjape SY, Black BK, Dupont WD, Raj SR. Diagnosing postural tachycardia syndrome: comparison of tilt testing compared with standing haemodynamics. Clinical science (London, England : 1979). Jan 2013;124(2):109-114. PMID: 22931296, PMCID: PMC3478101
  90. Norcliffe-Kaufmann L, Axelrod FB, Kaufmann H. Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome. J. Hum. Hypertens. Jan 2013;27(1):51-55. PMID: 22129610, PMCID: PMC3318957
  91. Tijero B, Gomez-Esteban JC, Lezcano E, et al. Cardiac sympathetic denervation in symptomatic and asymptomatic carriers of the E46K mutation in the alpha synuclein gene. Parkinsonism Relat. Disord. Jan 2013;19(1):95-100. PMID: 23000061
  92. Gamboa A, Okamoto LE, Raj SR, Diedrich A, Shibao CA, Robertson D, Biaggioni I. Nitric oxide and regulation of heart rate in patients with postural tachycardia syndrome and healthy subjects. Hypertension. Feb 2013;61(2):376-381. PMID: 23283362, PMCID: PMC3621717
  93. Norcliffe-Kaufmann LJ, Axelrod FB, Kaufmann H. Cyclic vomiting associated with excessive dopamine in Riley-day syndrome. J. Clin. Gastroenterol. Feb 2013;47(2):136-138. PMID: 22739220
  94. Nwazue VC, Raj SR. Confounders of vasovagal syncope: postural tachycardia syndrome. Cardiol. Clin. Feb 2013;31(1):101-109. PMID: 23217691, PMCID: PMC3522867
  95. Nwazue VC, Raj SR. Confounders of vasovagal syncope: orthostatic hypotension. Cardiol. Clin. Feb 2013;31(1):89-100. PMID: 23217690, PMCID: PMC3589989
  96. Macefield VG, Norcliffe-Kaufmann L, Axelrod FB, Kaufmann H. Cardiac-locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia. J. Physiol. Feb 1 2013;591(Pt 3):689-700. PMID: 23165765, PMCID: PMC3577542
  97. Arnold AC, Okamoto LE, Gamboa A, Shibao C, Raj SR, Robertson D, Biaggioni I. Angiotensin II, independent of plasma renin activity, contributes to the hypertension of autonomic failure. Hypertension. Mar 2013;61(3):701-706. PMID: 23266540, PMCID: PMC3573256
  98. Bagai K, Wakwe CI, Malow B, Black BK, Biaggioni I, Paranjape SY, Orozco C, Raj SR. Estimation of sleep disturbances using wrist actigraphy in patients with postural tachycardia syndrome. Auton. Neurosci. Mar 25 2013. PMID: 23538032, PMCID: PMC3700681 Norcliffe-Kaufmann L, Martinez J, Axelrod F, Kaufmann H. Hyperdopaminergic crises in familial dysautonomia: a randomized trial of carbidopa. Neurology. Apr 23 2013;80(17):1611-1617. PMID: 23553478, PMCID: PMC3662326
  99. Garland EM, Cesar TS, Lonce S, Ferguson MC, Robertson D. An increase in renal dopamine does not stimulate natriuresis after fava bean ingestion. Am. J. Clin. Nutr. May 2013;97(5):1144- 1150. PMID: 23553159, PMCID: PMC3628380
  100. Arnold AC, Okamoto LE, Diedrich A, et al. Low-dose propranolol and exercise capacity in postural tachycardia syndrome: a randomized study. Neurology. May 21 2013;80(21):19271933. PMID: 3616163, PMCID: PMC3716342
  101. Macefield VG, Norcliffe-Kaufmann LJ, Axelrod FB, Kaufmann H. Relationship between proprioception at the knee joint and gait ataxia in HSAN III. Mov. Disord. Jun 2013;28(6):823827. PMID: 23681701, PMCID: PMC3694996
  102. Raj SR. Postural tachycardia syndrome (POTS). Circulation. Jun 11 2013;127(23):2336-2342. PMID: 23753844, PMCID: PMC3756553
  103. Shibao C, Lipsitz LA, Biaggioni I. Evaluation and treatment of orthostatic hypotension. Journal of the American Society of Hypertension : JASH. Jul-Aug 2013;7(4):317-324. PMID: 23721882, PMCID: PMC3769179
  104. Park KJ, Singer W, Sletten DM, Low PA, Bharucha AE. Gastric emptying in postural tachycardia syndrome: a preliminary report. Clin. Auton. Res. Aug 2013;23(4):163-167. PMID: 23708963, PMCID: PMC3737368
  105. Parsaik AK, Singer W, Allison TG, et al. Orthostatic intolerance without postural tachycardia: how much dysautonomia? Clin. Auton. Res. Aug 2013;23(4):181-188. PMID: 23729158, PMCID: PMC3902804
  106. Parsaik AK, Ahlskog JE, Singer W, et al. Central hyperadrenergic state after lightning strike. Clin. Auton. Res. Aug 2013;23(4):169-173. PMID: 23761114, PMCID: PMC3737249
  107. Phillips L, Robertson D, Melson MR, Garland EM, Joos KM. Pediatric ptosis as a sign of treatable autonomic dysfunction. Am. J. Ophthalmol. Aug 2013;156(2):370-374 e372. PMID: 23622564, PMCID: PMC3720787
  108. Schroeder C, Jordan J, Kaufmann H. Management of neurogenic orthostatic hypotension in patients with autonomic failure. Drugs. Aug 2013;73(12):1267-1279. PMID: 23857549
  109. Green EA, Raj V, Shibao CA, et al. Effects of norepinephrine reuptake inhibition on postural tachycardia syndrome. Journal of the American Heart Association. Oct 2013;2(5):e000395. PMID: 24002370, PMCID: PMC3835251
  110. Shibao C, Grijalva CG, Lipsitz LA, Biaggioni I, Griffin MR. Early discontinuation of treatment in patients with orthostatic hypotension. Auton. Neurosci. Oct 2013;177(2):291-296. PMID: 24008021, PMCID: PMC3988581
  111. Wang N, Gibbons CH, Lafo J, Freeman R. α -Synuclein in cutaneous autonomic nerves. Neurology. Oct 29 2013;81(18):1604-1610. PMID: 24089386, PMCID: PMC3806913
  112. Li H, Yu X, Liles C, et al. Autoimmune basis for postural tachycardia syndrome. Journal of the American Heart Association. 2014;3(1):e000755. PMID: 24572257, PMCID: PMC3959717
  113. Nwazue VC, Paranjape SY, Black BK, et al. Postural tachycardia syndrome and inappropriate sinus tachycardia: role of autonomic modulation and sinus node automaticity. Journal of the American Heart Association. 2014;3(2):e000700. PMID: 24721800, PMCID: PMC4187519
  114. Palma JA, Kaufmann H. Autonomic disorders predicting Parkinson's disease. Parkinsonism Relat. Disord. Jan 2014;20 Suppl 1:S94-98. PMID: 24262198, PMCID: PMC4122262
  115. Wada N, Singer W, Gehrking TL, et al. Determination of vagal baroreflex sensitivity in normal subjects. Muscle Nerve. Jan 29 2014. PMID: 24477673, PMCID: PMC4115054
  116. Green EA, Black BK, Biaggioni I, et al. Melatonin reduces tachycardia in Postural Tachycardia Syndrome (POTS): A Randomized, Crossover Trial. Cardiovascular therapeutics. Feb 4 2014. PMID: 24495468, PMCID: PMC3999238
  117. Raj Md Msci SR. Highlights in clinical autonomic neurosciences: Insights into the roles of the carotid body and carotid baroreceptor. Auton. Neurosci. Feb 20 2014. PMID: 24650802, PMCID: PMC4058374
  118. Low PA, Robertson D, Gilman S, et al. Efficacy and safety of rifampicin for multiple system atrophy: a randomised, double-blind, placebo-controlled trial. Lancet Neurol. Mar 2014;13(3):268-275. PMID: 24507091, PMCID: PMC4030757
  119. Mendoza-Santiesteban CE, Hedges Iii TR, Norcliffe-Kaufmann L, Axelrod F, Kaufmann H. Selective retinal ganglion cell loss in familial dysautonomia. J. Neurol. Apr 2014;261(4):702709. PMID: 24487827
  120. Mai TH, Wu J, Diedrich A, Garland EM, Robertson D. Calcitonin gene-related peptide (CGRP) in autonomic cardiovascular regulation and vascular structure. Journal of the American Society of Hypertension : JASH. May 2014;8(5):286-296. PMID: 24746612, PMCID: PMC4072204
  121. Nwazue VC, Arnold AC, Raj V, et al. Understanding the placebo effect in clinical trials for postural tachycardia syndrome. Clin. Exp. Pharmacol. Physiol. May 2014;41(5):325-330. PMID: 24606242, PMCID: PMC4005784
  122. Roncevic D, Palma JA, Martinez J, Goulding N, Norcliffe-Kaufmann L, Kaufmann H. Cerebellar and parkinsonian phenotypes in multiple system atrophy: similarities, differences and survival. J. Neural Transm. May 2014;121(5):507-512. PMID: 24337696, PMCID: PMC4134009
  123. Pandey AK, Kanagasundaram A, Raj SR. Deglutition syncope: does fluid temperature matter? J. Am. Coll. Cardiol. May 27 2014;63(20):e55. PMID: 24703921, PMCID: PMC4059494
  124. Stankovic I, Krismer F, Jesic A, et al. Cognitive impairment in multiple system atrophy: a position statement by the Neuropsychology Task Force of the MDS Multiple System Atrophy (MODIMSA) study group. Mov. Disord. Jun 2014;29(7):857-867. PMID: 24753321, PMCID: PMC4175376
  125. Macefield VG, Norcliffe-Kaufmann L, Loken L, Axelrod FB, Kaufmann H. Disturbances in affective touch in hereditary sensory & autonomic neuropathy type III. Int. J. Psychophysiol. Jul 2014;93(1):56-61. PMID: 24726998, PMCID: PMC4078239
  126. Gamboa A, Okamoto LE, Arnold AC, et al. Autonomic Blockade Improves Insulin Sensitivity in Obese Subjects. Hypertension. Jul 7 2014. PMID: 25001269, PMCID: PMC4162826
  127. Arnold AC, Haman K, Garland EM, et al. Cognitive Dysfunction in Postural Tachycardia Syndrome. Clinical science (London, England : 1979). Jul 8 2014. PMID: 25001527, PMCID: PMC4161607
  128. Kaufmann H, Freeman R, Biaggioni I, et al. Droxidopa for neurogenic orthostatic hypotension: A randomized, placebo-controlled, phase 3 trial. Neurology. Jul 22 2014;83(4):328-335. PMID: 24944260
  129. Figueroa JJ, Singer W, Parsaik A, et al. Multiple system atrophy: prognostic indicators of survival. Mov. Disord. Aug 2014;29(9):1151-1157. PMID: 24909319, PMCID: PMC4139446
  130. Coffin ST, Raj SR. Non-invasive management of vasovagal syncope. Auton. Neurosci. Sep 2014;184:27-32. PMID: 24996861, PMCID: PMC4151906
  131. Raj SR. How did the simple faint get so complicated? Syncope in 2014. Auton. Neurosci. Sep 2014;184:1-2. PMID: 25042646, PMCID: PMC4151883
  132. Wada N, Singer W, Gehrking TL, Sletten DM, Schmelzer JD, Low PA. Comparison of baroreflex sensitivity with a fall and rise in blood pressure induced by the Valsalva manoeuvre. Clinical science (London, England: 1979). Sep 2014;127(5):307-313. PMID: 24597842, PMCID: PMC4024078
  133. Figueroa RA, Arnold AC, Nwazue VC, et al. Acute volume loading and exercise capacity in postural tachycardia syndrome. Journal of applied physiology (Bethesda, Md. : 1985). Sep 15 2014;117(6):663-668. PMID: 25059240, PMCID: PMC4157162
  134. Figueroa JJ, Bott-Kitslaar DM, Mercado JA, et al. Decreased orthostatic adrenergic reactivity in non-dipping postural tachycardia syndrome. Auton. Neurosci. Oct 2014;185:107-111. PMID: 25033770, PMCID: PMC4165658
  135. Biaggioni I. New developments in the management of neurogenic orthostatic hypotension. Curr. Cardiol. Rep. Nov 2014;16(11):542. PMID: 25303896
  136. Kpaeyeh J, Jr., Mar PL, Raj V, et al. Hemodynamic profiles and tolerability of modafinil in the treatment of postural tachycardia syndrome: a randomized, placebo-controlled trial. J. Clin. Psychopharmacol. Dec 2014;34(6):738-741. PMID: 25222185, PMCID: PMC4239166
  137. Okamoto LE, Gamboa A, Shibao CA, et al. Nebivolol, but not metoprolol, lowers blood pressure in nitric oxide-sensitive human hypertension. Hypertension. Dec 2014;64(6):1241- 1247. PMID: 25267802, PMCID: PMC4230998
  138. Palma JA, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H. Current treatments in familial dysautonomia. Expert Opin. Pharmacother. Dec 2014;15(18):2653-2671. PMID: 25323828, PMCID: PMC4236240
  139. Ramirez CE, Okamoto LE, Arnold AC, et al. Efficacy of atomoxetine versus midodrine for the treatment of orthostatic hypotension in autonomic failure. Hypertension. Dec 2014;64(6):1235-1240. PMID: 25185131, PMCID: PMC4231172
  140. Celedonio JE, Arnold AC, Dupont WD, et al. Residual sympathetic tone is associated with reduced insulin sensitivity in patients with autonomic failure. Clin. Auton. Res. 2015;25(5):309-315. PMID: 26359268, PMCID: PMC4785595
  141. Marinos A, Celedonio JE, Ramirez CE, et al. Time-Course Analysis of Flow Mediated Dilation for the Evaluation of Endothelial Function After a High-Fat Meal in African Americans. Journal of the American Heart Association. 2015;4(11). PMID: 26541392, PMCID: PMC4845211
  142. Loavenbruck A, Iturrino J, Singer W, et al. Disturbances of gastrointestinal transit and autonomic functions in postural orthostatic tachycardia syndrome. Neurogastroenterol. Motil. Jan 2015;27(1):92-98. PMID: 25483980, PMCID: PMC4286289
  143. Jelani QU, Norcliffe-Kaufmann L, Kaufmann H, Katz SD. Vascular endothelial function and blood pressure regulation in afferent autonomic failure. Am. J. Hypertens. Feb 2015;28(2):166-172. PMID: 25128693, PMCID: PMC4357802
  144. Norcliffe-Kaufmann L, Palma JA, Krismer F. Multiple system atrophy: the case for an international collaborative effort. Clin. Auton. Res. Feb 2015;25(1):81-83. PMID: 25862257, PMCID: PMC4497581
  145. Figueroa JJ, Singer W, Sandroni P, et al. Effects of patient-controlled abdominal compression on standing systolic blood pressure in adults with orthostatic hypotension. Arch. Phys. Med. Rehabil. Mar 2015;96(3):505-510. PMID: 25448247, PMCID: PMC4339489
  146. Gutierrez JV, Norcliffe-Kaufmann L, Kaufmann H. Brainstem reflexes in patients with familial dysautonomia. Clin. Neurophysiol. Mar 2015;126(3):626-633. PMID: 25082092
  147. Palma JA, Gomez-Esteban JC, Norcliffe-Kaufmann L, et al. Orthostatic hypotension in Parkinson disease: how much you fall or how low you go? Mov. Disord. Apr 15 2015;30(5):639-645. PMID: 25678194, PMCID: PMC4397106
  148. Norcliffe-Kaufmann L, Katz SD, Axelrod F, Kaufmann H. Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosis. Ann. Neurol. May 2015;77(5):743-752. PMID: 25627679, PMCID: PMC5074379
  149. Piccione EA, Sletten DM, Staff NP, Low PA. Autonomic system and amyotrophic lateral sclerosis. Muscle Nerve. May 2015;51(5):676-679. PMID: 25211238, PMCID: PMC4362936
  150. Gamboa A, Paranjape SY, Black BK, et al. Inspiratory resistance improves postural tachycardia: a randomized study. Circ. Arrhythm. Electrophysiol. Jun 2015;8(3):651-658. PMID: 25792354, PMCID: PMC4472504
  151. Kaufmann H, Norcliffe-Kaufmann L, Palma JA. Droxidopa in neurogenic orthostatic hypotension. Expert Rev. Cardiovasc. Ther. Jun 19 2015:1-17. PMID: 26092297, PMCID: PMC4509799
  152. Mar PL, Shibao CA, Garland EM, et al. Neurogenic hyperadrenergic orthostatic hypotension: a newly recognized variant of orthostatic hypotension in older adults with elevated norepinephrine (noradrenaline). Clinical science (London, England : 1979). Jul 2015;129(2):107-116. PMID: 25706983, PMCID: PMC4417057
  153. Cykowski MD, Coon EA, Powell SZ, et al. Expanding the spectrum of neuronal pathology in multiple system atrophy. Brain. Aug 2015;138(Pt 8):2293-2309. PMID: 25981961, PMCID: PMC4840945
  154. Garland EM, Celedonio JE, Raj SR. Postural Tachycardia Syndrome: Beyond Orthostatic Intolerance. Curr. Neurol. Neurosci. Rep. Sep 2015;15(9):60. PMID: 26198889, PMCID: PMC4664448
  155. Mendoza-Santiesteban CE, Palma JA, Martinez J, Norcliffe-Kaufmann L, Hedges TR, 3rd, Kaufmann H. Progressive retinal structure abnormalities in multiple system atrophy. Mov. Disord. Sep 11 2015. PMID: 26359930, PMCID: PMC4568758
  156. Arnold AC, Robertson D. Defective Wnt Signaling: A Potential Contributor to Cardiometabolic Disease? Diabetes. Oct 2015;64(10):3342-3344. PMID: 26405272, PMCID: PMC4587636
  157. Palma JA, Roda R, Norcliffe-Kaufmann L, Kaufmann H. Increased frequency of rhabdomyolysis in familial dysautonomia. Muscle Nerve. Nov 2015;52(5):887-890. PMID: 26202308, PMCID: PMC4596763
  158. Coon EA, Sletten DM, Suarez MD, et al. Clinical features and autonomic testing predict survival in multiple system atrophy. Brain. Dec 2015;138(Pt 12):3623-3631. PMID: 26369944, PMCID: PMC4840547
  159. Labbe C, Heckman MG, Lorenzo-Betancor O, et al. MAPT haplotype diversity in multiple system atrophy. Parkinsonism Relat. Disord. 2016. PMID: 27374978, PMCID: PMC5007155
  160. Loavenbruck AJ, Singer W, Mauermann ML, et al. Transthyretin amyloid neuropathy has earlier neural involvement but better prognosis than primary amyloid counterpart: an answer to the paradox? Ann. Neurol. 2016. PMID: 27422051, PMCID: PMC5016242
  161. Merkel PA, Manion M, Gopal-Srivastava R, et al. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J. Rare Dis. 2016;11(1):66. PMID: 27194034, PMCID: PMC4870759
  162. Okamoto LE, Diedrich A, Baudenbacher FJ, et al. Efficacy of Servo-Controlled Splanchnic Venous Compression in the Treatment of Orthostatic Hypotension: A Randomized Comparison With Midodrine. Hypertension. 2016;68(2):418-426. PMID: 27271310, PMCID: PMC4945429
  163. Norcliffe-Kaufmann L, Kaufmann H, Martinez J, Katz SD, Tully L, Reynolds HR. Autonomic Findings in Takotsubo Cardiomyopathy. Am. J. Cardiol. Jan 15 2016;117(2):206-213. PMID: 26743349
  164. Arnold AC, Okamoto LE, Gamboa A, et al. Mineralocorticoid Receptor Activation Contributes to the Supine Hypertension of Autonomic Failure. Hypertension. Feb 2016;67(2):424-429. PMID: 26644241, PMCID: PMC4748950
  165. Bajaj S, Krismer F, Palma JA, et al. Diffusion-weighted MRI distinguishes Parkinson disease from the parkinsonian variant of multiple system atrophy: A systematic review and metaanalysis. PLoS ONE. 2017;12(12):e0189897. PMID: 29287113, PMCID: PMC5747439
  166. Coon EA, Fealey RD, Sletten DM, et al. Anhidrosis in multiple system atrophy involves pre- and postganglionic sudomotor dysfunction. Mov Disord. 2017;32(3):397-404. PMID: 27859565, PMCID: PMC5483990
  167. Coon EA, Low PA. Pure autonomic failure without alpha-synuclein pathology: an evolving understanding of a heterogeneous disease. Clin Auton Res. 2017;27(2):67-68. PMID: 28236005, PMCID: PMC5390280
  168. Dillon RC, Palma JA, Spalink CL, et al. Dexmedetomidine for refractory adrenergic crisis in familial dysautonomia. Clin Auton Res. 2017;27(1):7-15. PMID: 27752785, PMCID: PMC5292083
  169. Gibbons CH, Schmidt P, Biaggioni I, et al. The recommendations of a consensus panel for the screening, diagnosis, and treatment of neurogenic orthostatic hypotension and associated supine hypertension. J Neurol. 2017;264(8):1567-1582. PMID: 28050656, PMCID: PMC5533816
  170. Gibbons CH, Wang N, Freeman R. Cutaneous Alpha-Synuclein From Paraffin Embedded Autopsy Specimens in Parkinson's Disease. Journal of Parkinson's disease. 2017;7(3):503-509. PMID: 28582870, PMCID: PMC5909847
  171. Grijalva CG, Biaggioni I, Griffin MR, Shibao CA. Fludrocortisone Is Associated With a Higher Risk of All-Cause Hospitalizations Compared With Midodrine in Patients With Orthostatic Hypotension. Journal of the American Heart Association. 2017;6(10). PMID: 29025750, PMCID: PMC5721876
  172. Kaufmann H, Norcliffe-Kaufmann L, Palma JA. Pure autonomic failure vs. manifest CNS synucleinopathy: Relevance of stridor and autonomic biomarkers. Ann Neurol. 2017. PMID: 28472861, PMCID: PMC5499678
  173. Kaufmann H, Norcliffe-Kaufmann L, Palma JA, et al. Natural history of pure autonomic failure: A United States prospective cohort. Ann Neurol. 2017;81(2):287-297. PMID: 28093795, PMCID: PMC5323269
  174. Kaufmann H, Palma JA. Neurogenic orthostatic hypotension: the very basics. Clin Auton Res. 2017;27(Suppl 1):39-43. PMID: 28620715, PMCID: PMC5524853
  175. Mendoza-Santiesteban CE, Gabilondo I, Palma JA, Norcliffe-Kaufmann L, Kaufmann H. The Retina in Multiple System Atrophy: Systematic Review and Meta-Analysis. Frontiers in neurology. 2017;8:206. PMID: 28596752, PMCID: PMC5443142
  176. Mendoza-Santiesteban CE, Palma JA, Hedges TR, 3rd, et al. Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia. J Neuropathol Exp Neurol. 2017;76(3):238-244. PMID: 28395083, PMCID: PMC5409127
  177. Mendoza-Santiesteban CE, Palma JA, Ortuno-Lizaran I, Cuenca N, Kaufmann H. Pathologic confirmation of retinal ganglion cell loss in multiple system atrophy. Neurology. 2017. PMID: 28490649, PMCID: PMC5467953
  178. Palma JA, Kaufmann H. Epidemiology, Diagnosis, and Management of Neurogenic Orthostatic Hypotension. Movement disorders clinical practice. 2017;4(3):298-308. PMID: 28713844, PMCID: PMC5506688
  179. Palma JA, Norcliffe-Kaufmann L, Perez MA, Spalink CL, Kaufmann H. Sudden Unexpected Death during Sleep in Familial Dysautonomia: A case-control study. Sleep. 2017. PMID: 28521050, PMCID: PMC5806542
  180. Palma JA, Spalink C, Barnes EP, Norcliffe-Kaufmann L, Kaufmann H. Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia. Clin Auton Res. 2017. PMID: 29196937, PMCID: PMC5807189
  181. Shibao CA, Kaufmann H. Pharmacotherapy of Cardiovascular Autonomic Dysfunction in Parkinson Disease. CNS drugs. 2017;31(11):975-989. PMID: 29076058, PMCID: PMC5809001
  182. Spalink CL, Barnes E, Palma JA, Norcliffe-Kaufmann L, Kaufmann H. Intranasal dexmedetomidine for adrenergic crisis in familial dysautonomia. Clin Auton Res. 2017;27(4):279-282. PMID: 28674865, PMCID: PMC5555081
  183. Wallach AI, Park H, Rucker JC, Kaufmann H. Supranuclear gaze palsy and horizontal ocular oscillations in Creutzfeldt-Jakob disease. Neurology. 2017;89(7):749. PMID: 28808164, PMCID: PMC5562964
  184. Aluma BB, Norcliffe-Kaufmann L, Sarouk I, et al. Resting Energy Expenditure in Patients with Familial Dysautonomia: A Preliminary Study. J Pediatr Gastroenterol Nutr. 2018. PMID: 30334929
  185. Bar-Aluma BE, Efrati O, Kaufmann H, Palma JA, Norcliffe-Kaufmann L. A Controlled Trial of Inhaled Bronchodilators in Familial Dysautonomia. Lung. 2018;196(1):93-101. PMID: 29234869 Farrell MC, Brenner AS, Shibao CA. Diagnostic treatment dilemma: baroreflex failure or autoimmune autonomic ganglionopathy? Clin Auton Res. 2018. PMID: 30151691
  186. Kazachkov M, Palma JA, Norcliffe-Kaufmann L, et al. Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations. Respir Med. 2018;141:37-46. PMID: 30053970, PMCID: PMC6084453
  187. Kaufmann H, Jordan J. The Clinical Autonomic Research journal 2017 and onward. Clin Auton Res. 2017;27(1):1-2. PMID: 28124174, PMCID: PMC5488329
  188. Coon EA, Ahlskog JE, Silber MH, et al. Do selective serotonin reuptake inhibitors improve survival in multiple system atrophy? Parkinsonism Relat Disord. 2018;48:51-53. PMID: 29254663, PMCID: PMC5826868
  189. Cutsforth-Gregory JK, McKeon A, Coon EA, et al. Ganglionic Antibody Level as a Predictor of Severity of Autonomic Failure. Mayo Clin Proc. 2018;93(10):1440-1447. PMID: 30170741, PMCID: PMC6173625
  190. Gutierrez JV, Kaufmann H, Palma JA, Mendoza-Santiesteban C, Macefield VG, NorcliffeKaufmann L. Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia. Clin Neurophysiol. 2018;129(2):390-396. PMID: 29289840
  191. McKay JH, Cheshire WP. First symptoms in multiple system atrophy. Clin Auton Res. 2018. PMID: 29313153, PMCID: PMC5859695
  192. Mehr SE, Barbul A, Shibao CA. Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review. Clin Auton Res. 2018. PMID: 29549458
  193. Norcliffe-Kaufmann L, Kaufmann H, Palma JA, et al. Orthostatic Heart Rate Changes in Patients with Autonomic Failure caused by Neurodegenerative Synucleinopathies. Ann Neurol. 2018. PMID: 29405350, PMCID: PMC5867255
  194. Palma JA. Autonomic dysfunction in Parkinson's disease and other synucleinopathies: Introduction to the series. Mov Disord. 2018;33(3):347-348. PMID: 29436737, PMCID: PMC5840012
  195. Palma JA, Kaufmann H. Treatment of autonomic dysfunction in Parkinson disease and other synucleinopathies. Mov Disord. 2018;33(3):372-390. PMID: 29508455, PMCID: PMC5844369
  196. Palma JA, Norcliffe-Kaufmann L, Kaufmann H. Diagnosis of multiple system atrophy. Auton Neurosci. 2018;211:15-25. PMID: 29111419, PMCID: PMC5869112
  197. Raj SR, Robertson D. Moving from the present to the future of Postural Tachycardia Syndrome - What we need. Auton Neurosci. 2018;215:126-128. PMID: 30539785, PMCID: PMC6293980
  198. Singh K, Palma JA, Kaufmann H, et al. Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia. Sleep medicine. 2018;45:33-38. PMID: 29680425, PMCID: PMC5918267
  199. Wenning G, Trojanowski JQ, Kaufmann H, Wisniewski T, Rocca WA, Low PA. Is multiple system atrophy an infectious disease? Ann Neurol. 2018. PMID: 29293269, PMCID: PMC5876125
  200. Kaufmann H, Norcliffe-Kaufmann L, Palma JA. Improvement of daytime hypercapnia with nocturnal non-invasive ventilation in familial dysautonomia. Clin Auton Res. 2019. PMID: 30637592
  201. Palma JA, Gileles-Hillel A, Norcliffe-Kaufmann L, Kaufmann H. Chemoreflex failure and sleepdisordered breathing in familial dysautonomia: Implications for sudden death during sleep. Auton Neurosci. 2019;218:10-15. PMID: 30890343, PMCID: PMC6428199
  202. Riboldi GM, Palma JA, Cortes E, et al. Early-onset pathologically proven multiple system atrophy with LRRK2 G2019S mutation. Mov Disord. 2019. PMID: 31077434
  203. Won E, Palma JA, Kaufmann H, et al. Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia. Clin Auton Res. 2019. PMID: 30783821

Abstracts Presented at Conferences

  1. Epling-Burnette P, Xhen X, Bai F, Lubomir S, Ku E, Painter J, JianXiang Z, Edwards T, Julie D, Lynn M, Loughran T, S W. Aberrant NK receptor signaling associated with large granular lymphoycte and primary pulmonary hypertension. Paper presented at: American Society of Hematology; December 8-11, 2007; Atlanta, GA.
  2. Sekeres M, List A, Cuthbertson D, Paquette R, Loughran T, Maciejewski J. Preliminary Results from a Phase I study of Revlimid (Lenalidomide) in combination with Vidaza (Azacitidine) in patients with advanced myelodysplastic syndromes (MDS). Paper presented at: American Society of Hematology; December 8-11, 2007; Altanta, GA.
  3. Epling-Burnette P, Sokol L, Moscinski L, Elkabani M, Bai F, Blaskovich M, Zou J, Painter J, Sebti S, Loughran T. First clinical report on Tipifarnib for the treatment of T-large granular lymphocyte (LGL) leukemia. Paper presented at: American Society of Hematology; December 8-11, 2007; Atlanta, GA.
  4. Wei S, Rocha K, Williams A, Chen X, Burnette P, Djeu J, Liu Q, Byrd J, Sokol L, Lawrence N, Pireddu R, Dewald G, Maciejewski J, List A. Gene dosage of the cell cycle regulatory phosphatases Cdc25C and PP2A determines sensitivity to lenalidomide in del(5q) MDS. Paper presented at: American Society of Hematology; December 8-11, 2007; Atlanta, GA.
  5. Bai F, Zou J, Wei S, Painter J, Blaskovich M, Sebti S, Loughran T, Epling-Burnette P. Th2 polarization induced by the farnesyltransferase inhibitor Tipifarnib (Zarnestra, R115777) through suppression of t-bet. Paper presented at: American Society of Hematology; December 8-11, 2007; Atlanta, GA.
  6. Painter J, Costellanos A, Bai F, Wei S, Loughran T, Epling-Burnette P. Constitutive activation of ras and mitogen-activated protein kinase (MAPK/ERK) in LGL leukemia unrelated to activating mutations in N and KRas genes. Paper presented at: American Society of Hematology; December 8-11, 2007; Atlanta.
  7. Nyland S, Cuthbertson D, Loughran T. Elevated fas ligand and BA21 serorecognition as disease correlates in bone marrow failure disorders: taking advantage of the LGL leukemia model. Paper presented at: American Society of Hematology; December 8-11, 2007; Atlanta, GA.
  8. Gondek L, Tiu R, Wlodarski M, O’Keefe C, McDevitt M, Maciejewski J. Enhancement of cytogenetic diagnosis of myeloid disorders through application of SNP-array-based karyotyping. Paper presented at: American Society of Hematology; December 8-11, 2007; Atlanta, GA.
  9. O’Keefe C, Gondek L, Woodarski M, Karp J, McDevitt M, Maciejewski J. Can genomic copy number variants be a part of complex genetic traits predisposing to marrow failure? Paper presented at: American Society of Hematology; December 8-11, 2007; Atlanta.
  10. Gondek L, Dunbar A, O’Keefe C, McDevitt M, Batista D, Theil K, Maciejewski J. SNP-A karyotyping facilitates improved mapping of deletions and uniparental disomy within the long arm of Chromosome 5 in myeloid disorders. Paper presented at: American Society of Hematology; December 8-11, 2007; Atlanta, GA.
  11. Serio B, Ramsingh G, Tiu R, Risitano A, Sekeres M, Maciejewski J. Immunogenetic analysis reveals the association of INF (+874 A/T) hypersecretor genotype in AA and a low frequency of KIR-2DL3/C1 mismatch in responders to immunosuppression. Paper presented at: American Society of Hematology; December 8-11, 2007; Atlanta, GA.

Journal Articles

  1. Nearman ZP, Wlodarski M, Jankowska AM, Howe E, Narvaez Y, Ball E, Maciejewski JP. Immunogenetic factors determining the evolution of T-cell large granular lymphocyte leukaemia and associated cytopenias. Br. J. Haematol. Jan 2007;136(2):237-248. PMID: 17156396
  2. Sekeres MA, Fu AZ, Maciejewski JP, Golshayan AR, Kalaycio ME, Kattan MW. A Decision analysis to determine the appropriate treatment for low-risk myelodysplastic syndromes. Cancer. Mar 15 2007;109(6):1125-1132. PMID: 17265521
  3. Golshayan AR, Jin T, Maciejewski J, Fu AZ, Bershadsky B, Kattan MW, Kalaycio ME, Sekeres MA. Efficacy of growth factors compared to other therapies for low-risk myelodysplastic syndromes. Br. J. Haematol. Apr 2007;137(2):125-132. PMID: 17391492
  4. Wlodarski MW, Nearman Z, Jiang Y, Lichtin A, Maciejewski JP. Clonal predominance of CD8(+) T cells in patients with unexplained neutropenia. Exp. Hematol. Mar 2008;36(3):293-300. PMID: 18279717, PMCID: PMC2643087
  5. Uchida K, Nakata K, Suzuki T, Luisetti M, Watanabe M, Koch DE, Stevens CA, Beck DC, Denson LA, Carey BC, Keicho N, Krischer JP, Yamada Y, Trapnell BC. Granulocyte/macrophage colonystimulating factor autoantibodies and myeloid cell immune functions in healthy individuals. Blood. Oct 9 2008. PMID: 20224064, PMCID: PMC2902758
  6. Sekeres MA, Schoonen WM, Kantarjian H, List A, Fryzek J, Paquette R, Maciejewski JP. Characteristics of US patients with myelodysplastic syndromes: results of six cross-sectional physician surveys. J. Natl. Cancer Inst. Nov 5 2008;100(21):1542-1551. PMID: 18957672, PMCID: PMC2579314
  7. Epling-Burnette PK, Sokol L, Chen X, Bai F, Zhou J, Blaskovich MA, Zou J, Painter JS, Edwards TD, Moscinski L, Yoder JA, Djeu JY, Sebti S, Loughran TP, Jr., Wei S. Clinical improvement by farnesyltransferase inhibition in NK large granular lymphocyte leukemia associated with imbalanced NK receptor signaling. Blood. Dec 1 2008;112(12):4694-4698. PMID: 18791165, PMCID: PMC2597136
  8. Dunbar AJ, Gondek LP, O'Keefe CL, Makishima H, Rataul MS, Szpurka H, Sekeres MA, Wang XF, McDevitt MA, Maciejewski JP. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res. Dec 15 2008;68(24):10349-10357. PMID: 19074904, PMCID: PMC2668538
  9. Sekeres MA, Maciejewski JP, Giagounidis AA, Wride K, Knight R, Raza A, List AF. Relationship of treatment-related cytopenias and response to lenalidomide in patients with lower-risk myelodysplastic syndromes. J. Clin. Oncol. Dec 20 2008;26(36):5943-5949. PMID: 19018091, PMCID: PMC2645116
  10. Sekeres MA, Elson P, Kalaycio ME, Advani AS, Copelan EA, Faderl S, Kantarjian HM, Estey E. Time from diagnosis to treatment initiation predicts survival in younger, but not older, acute myeloid leukemia patients. Blood. Jan 1 2009;113(1):28-36. PMID: 18827183, PMCID: PMC2614639
  11. Uchida K, Nakata K, Suzuki T, Luisetti M, Watanabe M, Koch DE, Stevens CA, Beck DC, Denson LA, Carey BC, Keicho N, Krischer JP, Yamada Y, Trapnell BC. Granulocyte/macrophage-colonystimulating factor autoantibodies and myeloid cell immune functions in healthy subjects. Blood. Mar 12 2009;113(11):2547-2556. PMID: 19282464, PMCID: PMC2656275
  12. Zou JX, Rollison DE, Boulware D, Chen DT, Sloand EM, Pfannes LV, Goronzy JJ, Bai F, Painter JS, Wei S, Cosgrove D, List AF, Epling-Burnette PK. Altered naive and memory CD4+ T-cell homeostasis and immunosenescence characterize younger patients with myelodysplastic syndrome. Leukemia. Jul 2009;23(7):1288-1296. PMID: 19282834, PMCID: PMC3252820
  13. Mohan SR, Clemente MJ, Afable M, Cazzolli HN, Bejanyan N, Wlodarski MW, Lichtin AE, Maciejewski JP. Therapeutic implications of variable expression of CD52 on clonal cytotoxic T cells in CD8+ large granular lymphocyte leukemia. Haematologica. Oct 2009;94(10):1407-1414. PMID: 19794084, PMCID: PMC2754957
  14. Sekeres MA, Steensma DP. Defining prior therapy in myelodysplastic syndromes and criteria for relapsed and refractory disease: implications for clinical trial design and enrollment. Blood. Sep 24 2009;114(13):2575-2580. PMID: 19605847, PMCID: PMC2756119
  15. Jasek M, Gondek LP, Bejanyan N, Tiu R, Huh J, Theil KS, O'Keefe C, McDevitt MA, Maciejewski JP. TP53 mutations in myeloid malignancies are either homozygous or hemizygous due to copy number-neutral loss of heterozygosity or deletion of 17p. Leukemia. Jan 2010;24(1):216-219. PMID: 19759556, PMCID: PMC2806506
  16. Uchida K, Carey B, Suzuki T, Nakata K, Trapnell B. Response: Granulocyte/macrophage colonystimulating factor autoantibodies and myeloid cell immune functions in healthy persons. Blood. Jan 14 2010;115(2):431-433. PMID: 20075172, PMCID: PMC2808163
  17. Nyland SB, Krissinger DJ, Clemente MJ, et al. Seroreactivity to LGL leukemia-specific epitopes in aplastic anemia, myelodysplastic syndrome and paroxysmal nocturnal hemoglobinuria: results of a bone marrow failure consortium study. Leuk. Res. May 2012;36(5):581-587. PMID: 22386729, PMCID: PMC3312981

Abstracts Presented at Conferences

  1. Shneider B, Brown M, Sokol R, Whitington P, Schwarz K, Squires R, Bucuvalas J, Haber B, Sheperd R, Rosenthal P, Robuck P, BARC. A multi-center analysis of outcome at 24 months of age in children with biliary atresia in the United States. Paper presented at: Annual Meeting of the American Association for the Study of Liver Diseases; November, 2004; Boston, MA.
  2. Haber B, Brown M, Shneider B, Sokol R, Whitington P, Derusso P, Squires R, Bezerra J, Sheperd R, Rosenthal P, Robuck P, BARC. Patient demographics and clinical practices in a US multicenter study of biliary atresia. Paper presented at: Annual Meeting of the American Association for the Study of Liver Diseases; November 2004; Boston, MA.
  3. DeRusso P, Ye W, Haber B, Shneider B, Sokol R, Whitington P, Squires R, Bezerra J, Shepherd R, Rosenthal P, Hoofnagle J. Early growth failure after portoenterostomy is associated with liver transplantation or death in infants with biliary atresia. Paper presented at: 56th Annual Meeting of the American Association for the Study of Liver Diseases; November, 2005; San Francisco, CA.
  4. Shneider B, Norton K, Superina R, Erlichman J, Magee J, Bucuvalas J, Whitington P, Rosenthal P, Squires R, Benson J, Karpen S, Shepherd R, Sokol R. Diagnostic imaging in neonatal cholestasis:
  5. a multi-center prospective analysis. Paper presented at: AASLD Annual Meeting; October, 2006; Boston, MA.
  6. Russo P, Boitnott J, Bove K, Brown M, Finegold M, J H, Jaffe R, Kim G, Magee J, Magid M, MelinAldana H, Sokol R, White F. A multi-institutional study of interobserver agreement on the histologic diagnosis of biliary obstruction in liver biopsies of cholestatic infants less than six months of age. Paper presented at: AASLD Annual Meeting; October, 2006; Boston, MA.
  7. Shneider B, Shepherd R, Magee J, Bucuvalas J, Haber B, Karpen S, Rosenthal P, Schwarz K, Suchy F, Whitington P, Sokol R. Discriminating features of biliary atresia-a prospective multicentered analysis. Paper presented at: AASLD Annual Meeting2007; Boston, MA.
  8. Miethke A, Matte U, Liu C, Balistreri W, Ryckman F, Bezerra J. Gene mutations and clinical outcome after biliary diversion surgery for intractable pruritus in children with intrahepatic cholestasis. Paper presented at: NASPGHAN annual meeting; October, 2007; Salt Lake City, UT.
  9. Gondek L, Tiu R, Wlodarski M, O’Keefe C, McDevitt M, Maciejewski J. Enhancement of cytogenetic diagnosis of myeloid disorders through application of SNP-array-based karyotyping. Paper presented at: American Society of Hematology; December 8-11, 2007; Atlanta, GA.
  10. Gondek L, Dunbar A, O’Keefe C, McDevitt M, Batista D, Theil K, Maciejewski J. SNP-A karyotyping facilitates improved mapping of deletions and uniparental disomy within the long arm of Chromosome 5 in myeloid disorders. Paper presented at: American Society of Hematology; December 8-11, 2007; Atlanta, GA.
  11. Haber B, Fredericks E, Magee J, Bezerra JA, Karpen S, Kerkar N, Rosenthal P, Schwarz K, Shepherd R, Shneider B, Whitington P, Robuck P, Sokol R, BARC. Predictors of neurodevelopmental outcome in non-transplanted children with biliary atresia at one year of age. Paper presented at: AASLD Annual Meeting; November 2008.
  12. Schwarz K, Shepherd R, Magee J, Rosenthal P, Mack C, Raghumathan T, Bezerra J, Haber B, Karpen S, Suchy F, Whitington P, Robuck P, Sokol R, BARC. Clinical and demographic features of three major biliary atresia phenotypes in the BARC study. Paper presented at: AASLD Annual Meeting; November 2008.
  13. Heubi J, Setchell K, Rosenthal P, Shah S, Buckley D, Jha P, Zhang W, Potter C, Suskind D, Bull L. Oral glycocholic acid treatment of patients with bile acid amidation defects improves growth and fat-soluble vitamin absorption; 2009, 2009.
  14. Sokol R, Hines J. The Cholestatic Liver Disease Consortium (CLiC): a multi-institutional collaboration to better understand and treat liver disease in children. Paper presented at: NIH conference “Advancing Rare Diseases Research through Networks and Collaboration.”; July 16, 2009; Bethesda, MD.
  15. Hahn C, Sokol R, Hines J. The patient advocacy group committee of the Cholestatic Liver Disease Consortium: giving families, parents and patients a partnership with researchers. Paper presented at: NIH conference “Advancing Rare Diseases Research through Networks and Collaboration.” July 16, 2009; Bethesda, MD.
  16. Bass LM, Xie H, Yu S, Malladi P, Bento-Soares M, Whitington P. Expression in progressive familial intrahepatic cholestasis. Paper presented at: AASLD Liver Meeting; Oct. 30-Nov. 1, 2009; Boston, MA.
  17. Sundaram S, Fredericks E, Kamath B, Haber B, Raghumathan T, Magee J, Bezerra J, Karpen S, Kerkar N, Rosethal P, Schwarz K, Shepherd R, Schneider B, Whitington P, Robuck P, Sokol R, BARC. Cross sectional assessment of quality of life in biliary aresia patients ages 2-25 years. Paper presented at: AASLD Annual Meeting; November, 2009; Boston, MA.
  18. Sokol R, Magee J, Hahn C, Robuck P. The new Childhood Liver Disease Research and Education Network (ChiLDREN): a new cooperative effort between NIDDK, academic centers and patient advocacy groups. Paper presented at: NASPGHAN Annual Meeting; November 2009; National Harbor, MD.
  19. Shneider B, Abel R, Raghunathan T, Magee J, Bezerra J, Haber B, Karpen S, Rosenthal P, Schwarz K, Shepherd R, Suchy F, Whitington P, Robuck P, Sokol R, BARC. A prospective multicentered investigation of vitamin supplementation in infants with biliary atresia: interim analysis from the Biliary Atresia Research Consortium (BARC). Paper presented at: AASLD Annual Meeting; November 2009; Boston, MA.
  20. Shneider B, Abel R, Haber B, Karpen S, Magee J, Romero R, Schwartz K, Bass L, Kerkar N, Miethke A, Rosenthal P, Turmelle Y, Sokol R. Multi-center analysis of portal hypertension in 163 children with biliary atresia. Paper presented at: Annual Meeting of the American Association for the Study of Liver Disease; November 2010; Boston, MA.

Conference Proceedings

  1. Bass LM, Malladi P, Whitington P. FXR response in cholestatic liver disease. AASLD Abstracts 676–894. Hepatology. 2008;48(S1):609A-706A.

Journal Articles

  1. Sokol RJ. New North American research network focuses on biliary atresia and neonatal liver disease. J. Pediatr. Gastroenterol. Nutr. Jan 2003;36(1):1. PMID: 12537011
  2. Hoofnagle J. Biliary Atresia Research Consortium (BARC). Hepatology. 2004;39(4). PMID: 15057888
  3. Sokol RJ, Mack CL. Optimizing outcomes and bridging biliary atresia into adulthood. Hepatology. Feb 2005;41(2):231-233. PMID: 15657917
  4. Mack CL, Sokol RJ. Unraveling the pathogenesis and etiology of biliary atresia. Pediatr. Res. May 2005;57(5 Pt 2):87R-94R. PMID: 15817506
  5. Shneider BL, Brown MB, Haber B, Whitington PF, Schwarz K, Squires R, Bezerra J, Shepherd R, Rosenthal P, Hoofnagle JH, Sokol RJ. A multicenter study of the outcome of biliary atresia in the United States, 1997 to 2000. J. Pediatr. Apr 2006;148(4):467-474. PMID: 16647406
  6. Warthen DM, Moore EC, Kamath BM, Morrissette JJ, Sanchez P, Piccoli DA, Krantz ID, Spinner NB. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum. Mutat. May 2006;27(5):436-443. PMID: 16575836
  7. McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am. J. Hum. Genet. Jul 2006;79(1):169-173. PMID: 16773578, PMCID: PMC1474136
  8. Sokol RJ, Devereaux M, Dahl R, Gumpricht E. "Let there be bile"--understanding hepatic injury in cholestasis. J. Pediatr. Gastroenterol. Nutr. Jul 2006;43 Suppl 1:S4-9. PMID: 16819400
  9. Setchell KD, Heubi JE. Defects in bile acid biosynthesis--diagnosis and treatment. J. Pediatr. Gastroenterol. Nutr. Jul 2006;43 Suppl 1:S17-22. PMID: 16819396
  10. Liu C, Aronow BJ, Jegga AG, Wang N, Miethke A, Mourya R, Bezerra JA. Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. Gastroenterology. Jan 2007;132(1):119-126. PMID: 17241866, PMCID: PMC2190109
  11. He M, Rutledge SL, Kelly DR, et al. A new genetic disorder in mitochondrial fatty acid betaoxidation: ACAD9 deficiency. Am. J. Hum. Genet. Jul 2007;81(1):87-103. PMID: 17564966, PMCID: PMC1950923
  12. Heubi JE, Setchell KD, Bove KE. Inborn errors of bile acid metabolism. Semin. Liver Dis. Aug 2007;27(3):282-294. PMID: 17682975
  13. Lee WS, Sokol RJ. Liver disease in mitochondrial disorders. Semin. Liver Dis. Aug 2007;27(3):259-273. PMID: 7682973, PMCID: PMC3888320
  14. Sokol RJ, Shepherd RW, Superina R, Bezerra JA, Robuck P, Hoofnagle JH. Screening and outcomes in biliary atresia: summary of a National Institutes of Health workshop. Hepatology. Aug 2007;46(2):566-581. PMID: 7661405, PMCID: PMC3888317
  15. DeRusso PA, Ye W, Shepherd R, Haber BA, Shneider BL, Whitington PF, Schwarz KB, Bezerra JA, Rosenthal P, Karpen S, Squires RH, Magee JC, Robuck PR, Sokol RJ. Growth failure and outcomes in infants with biliary atresia: a report from the Biliary Atresia Research Consortium. Hepatology. Nov 2007;46(5):1632-1638. PMID: 17929308, PMCID: PMC3881187
  16. Sundaram SS, Bove KE, Lovell MA, Sokol RJ. Mechanisms of disease: Inborn errors of bile acid synthesis. Nat. Clin. Pract. Gastroenterol. Hepatol. Aug 2008;5(8):456-468. PMID: 8577977, PMCID: PMC3888787
  17. Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J. Hepatol. Jul 2010;53(1):170-178. PMID: 20447715, PMCID: PMC3042805

Conference Proceedings

  1. Khera N, Xiaoyu C, Duong H, et al. Prospective Longitudinal Study of Late Acute Graft Versus Host Disease after Hematopoietic Cell Transplantation: A Report from Chronic GVHD Consortium. Paper presented at: BMT Tandem Meetings2015; San Diego, CA.
  2. Palmer J, Chai X, Martin P, et al. Physician-Reported CR+PR at 6 Months Predicts Subsequent Survival in Patients with Chronic GVHD. Paper presented at: BMT Tandem Meetings2015; San Diego, CA.
  3. Wood W, Lee S, Chai X, et al. Survival without Progressive Impairment As a Novel Endpoint in Chronic Graft-Versus-Host Disease. Paper presented at: BMT Tandem Meetings2015; San Diego, CA.
  4. Yu J, Storer B, Daguindau E, et al. A Biomarker Panel for Chronic Graft-Versus-Host Disease. Paper presented at: BMT Tandem Meetings2015; San Diego, CA.

Journal Articles

  1. Chronic Graft Versus Host Disease Consortium. Rationale and design of the chronic GVHD cohort study: improving outcomes assessment in chronic GVHD. Biol. Blood Marrow Transplant. Aug 2011;17(8):1114-1120. PMID: 21664473, PMCID: PMC4016312
  2. Pidala J, Kurland BF, Chai X, Vogelsang G, Weisdorf DJ, Pavletic S, Cutler C, Majhail N, Lee SJ. Sensitivity of changes in chronic graft-versus-host disease activity to changes in patientreported quality of life: results from the Chronic Graft-versus-Host Disease Consortium. Haematologica. Oct 2011;96(10):1528-1535. PMID: 21685473, PMCID: PMC3186315
  3. Mitchell SA, Jacobsohn D, Thormann Powers KE, et al. A multicenter pilot evaluation of the National Institutes of Health chronic graft-versus-host disease (cGVHD) therapeutic response measures: feasibility, interrater reliability, and minimum detectable change. Biol. Blood Marrow Transplant. Nov 2011;17(11):1619-1629. PMID: 21536143, PMCID: PMC3158826
  4. Pidala J, Vogelsang G, Martin P, Chai X, Storer B, Pavletic S, Weisdorf DJ, Jagasia M, Cutler C, Palmer J, Jacobsohn D, Arai S, Lee SJ. Overlap subtype of chronic graft-versus-host disease is associated with an adverse prognosis, functional impairment, and inferior patient-reported outcomes: a Chronic Graft-versus-Host Disease Consortium study. Haematologica. Mar 2012;97(3):451-458. PMID: 22058206, PMCID: PMC3291602
  5. Pidala J, Chai X, Martin P, et al. Hand grip strength and 2-minute walk test in chronic graftversus-host disease assessment: analysis from the Chronic GVHD Consortium. Biol. Blood Marrow Transplant. Jun 2013;19(6):967-972. PMID: 23542686, PMCID: PMC3966477
  6. Jacobsohn DA, Kurland BF, Pidala J, et al. Correlation between NIH composite skin score, patient-reported skin score, and outcome: results from the Chronic GVHD Consortium. Blood. Sep 27 2012;120(13):2545-2552; quiz 2774. PMID: 22773386, PMCID: PMC3460679
  7. Inamoto Y, Martin PJ, Chai X, et al. Clinical benefit of response in chronic graft-versus-host disease. Biol. Blood Marrow Transplant. Oct 2012;18(10):1517-1524. PMID: 22683612, PMCID: PMC3443259
  8. Inamoto Y, Storer BE, Lee SJ, et al. Failure-free survival after second-line systemic treatment of chronic graft-versus-host disease. Blood. Mar 21 2013;121(12):2340-2346. PMID: 23321253, PMCID: PMC3606068
  9. Arora M, Pidala J, Cutler CS, et al. Impact of prior acute GVHD on chronic GVHD outcomes: a chronic graft versus host disease consortium study. Leukemia. Apr 2013;27(5):1196-1201. PMID: 23047477, PMCID: PMC3942496
  10. Pidala J, Chai X, Kurland BF, et al. Analysis of gastrointestinal and hepatic chronic grant-versushost disease manifestations on major outcomes: a chronic grant-versus-host disease consortium study. Biol. Blood Marrow Transplant. May 2013;19(5):784-791. PMID: 23395601, PMCID: PMC3896215
  11. Inamoto Y, Storer BE, Petersdorf EW, et al. Incidence, risk factors, and outcomes of sclerosis in patients with chronic graft-versus-host disease. Blood. Jun 20 2013;121(25):5098-5103. PMID: 23547053, PMCID: PMC3689252
  12. Pidala J, Sarwal M, Roedder S, Lee SJ. Biologic markers of chronic GVHD. Bone Marrow Transplant. Jul 22 2013. PMID: 23872737, PMCID: PMC3976639
  13. Inamoto Y, Martin PJ, Storer BE, et al. Association of severity of organ involvement with mortality and recurrent malignancy in patients with chronic graft-versus-host disease. Haematologica. 2014;99(10):1618-1623. PMID: 24997150, PMCID: PMC4181259
  14. Duarte RF, Greinix H, Rabin B, et al. Uptake and use of recommendations for the diagnosis, severity scoring and management of chronic GVHD: an international survey of the EBMT-NCI Chronic GVHD Task Force. Bone Marrow Transplant. Jan 2014;49(1):49-54. PMID: 23955633, PMCID: PMC3947261
  15. Kitko CL, Levine JE, Storer BE, et al. Plasma CXCL9 elevations correlate with chronic GVHD diagnosis. Blood. Jan 30 2014;123(5):786-793. PMID: 24363401, PMCID: PMC3907763
  16. Palmer J, Williams K, Inamoto Y, et al. Pulmonary symptoms measured by the national institutes of health lung score predict overall survival, nonrelapse mortality, and patient reported outcomes in chronic graft-versus-host disease. Biol. Blood Marrow Transplant. Mar 2014;20(3):337-344. PMID: 24315845, PMCID: PMC3973401
  17. Allen JL, Tata PV, Fore MS, et al. Increased BCR responsiveness in B cells from patients with chronic GVHD. Blood. Mar 27 2014;123(13):2108-2115. PMID: 24532806, PMCID: PMC3968393
  18. Inamoto Y, Jagasia M, Wood WA, et al. Investigator feedback about the 2005 NIH diagnostic and scoring criteria for chronic GVHD. Bone Marrow Transplant. Apr 2014;49(4):532-538. PMID: 24464142, PMCID: PMC3975688
  19. Inamoto Y, Pidala J, Chai X, et al. Assessment of joint and fascia manifestations in chronic graftversus-host disease. Arthritis & rheumatology (Hoboken, N.J.). Apr 2014;66(4):1044-1052. PMID: 24757155, PMCID: PMC4014356
  20. Inamoto Y, Flowers ME, Sandmaier BM, et al. Failure-free survival after initial systemic treatment of chronic graft-versus-host disease. Blood. Aug 21 2014;124(8):1363-1371. PMID: 24876566, PMCID: PMC4141518
  21. El-Jawahri A, Pidala J, Inamoto Y, et al. Impact of Age on Quality of Life, Functional Status, and Survival in Patients with Chronic Graft-versus-Host Disease. Biol. Blood Marrow Transplant. Sep 2014;20(9):1341-1348. PMID: 24813171, PMCID: PMC4127362
  22. Sun YC, Chai X, Inamoto Y, et al. Impact of Ocular Chronic Graft-versus-Host Disease on Quality of Life. Biol. Blood Marrow Transplant. 2015;21(9):1687-1691. PMID: 26033283, PMCID: PMC4537831
  23. Inamoto Y, Sun YC, Flowers ME, et al. Bandage Soft Contact Lenses for Ocular Graft-versusHost Disease. Biol. Blood Marrow Transplant. 2015;21(11):2002-2007. PMID: 26189353, PMCID: PMC4604037
  24. Krupski C, Jagasia M. Quality of Life in the Chronic GVHD Consortium Cohort: Lessons Learned and the Long Road Ahead. Curr. Hematol. Malig. Rep. Sep 2015;10(3):183-191. PMID: 26303672
  25. Arai S, Pidala J, Pusic I, et al. A Randomized Phase II Crossover Study of Imatinib or Rituximab for Cutaneous Sclerosis after Hematopoietic Cell Transplantation. Clin Cancer Res. 2016;22(2):319-327. PMID: 26378033, PMCID: PMC4715914
  26. Cheng GS, Storer B, Chien JW, et al. Lung Function Trajectory in Bronchiolitis Obliterans Syndrome after Allogeneic Hematopoietic Cell Transplant. Annals of the American Thoracic Society. 2016;13(11):1932-1939. PMID: 27513368
  27. Kariminia A, Holtan SG, Ivison S, et al. Heterogeneity of chronic graft-versus-host disease biomarkers: association with CXCL10 and CXCR3+ NK cells. Blood. 2016;127(24):3082-3091. PMID: 27020088, PMCID: PMC4911864
  28. Lazaryan A, Weisdorf DJ, DeFor T, et al. Risk Factors for Acute and Chronic Graft-versus-Host Disease after Allogeneic Hematopoietic Cell Transplantation with Umbilical Cord Blood and Matched Sibling Donors. Biol Blood Marrow Transplant. 2016;22(1):134-140. PMID: 26365153, PMCID: PMC4787268
  29. Liu X, Yue Z, Yu J, et al. Proteomic Characterization Reveals That MMP-3 Correlates With Bronchiolitis Obliterans Syndrome Following Allogeneic Hematopoietic Cell and Lung Transplantation. Am J Transplant. 2016;16(8):2342-2351. PMID: 26887344, PMCID: PMC4956556
  30. Merkel PA, Manion M, Gopal-Srivastava R, et al. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J. Rare Dis. 2016;11(1):66. PMID: 27194034, PMCID: PMC4870759
  31. Merkel EC, Mitchell SA, Lee SJ. Content Validity of the Lee Chronic Graft-versus-Host Disease Symptom Scale as Assessed by Cognitive Interviews. Biol Blood Marrow Transplant. 2016;22(4):752-758. PMID: 26751003, PMCID: PMC4850024
  32. Muller JA, Zirafi O, Roan NR, Lee SJ, Munch J. Evaluation of EPI-X4 as a urinary peptide biomarker for diagnosis and prognosis of late acute GvHD. Bone Marrow Transplant. 2016;51(8):1137-1139. PMID: 27042833, PMCID: PMC4972659
  33. Williams KM, Cheng GS, Pusic I, et al. Fluticasone, Azithromycin, and Montelukast Treatment for New-Onset Bronchiolitis Obliterans Syndrome after Hematopoietic Cell Transplantation. Biol Blood Marrow Transplant. 2016;22(4):710-716. PMID: 26475726, PMCID: PMC4801753
  34. Yu J, Storer BE, Kushekhar K, et al. Biomarker Panel for Chronic Graft-Versus-Host Disease. J Clin Oncol. 2016;34(22):2583-2590. PMID: 27217465, PMCID: PMC5012688
  35. Palmer J, Chai X, Pidala J, et al. Predictors of survival, nonrelapse mortality, and failure-free survival in patients treated for chronic graft-versus-host disease. Blood. Jan 7 2016;127(1):160166. PMID: 26527676, PMCID: PMC4705606
  36. Arora M, Cutler CS, Jagasia MH, et al. Late Acute and Chronic Graft-versus-Host Disease after Allogeneic Hematopoietic Cell Transplantation. Biol. Blood Marrow Transplant. Mar 2016;22(3):449-455. PMID: 26541363, PMCID: PMC4787270
  37. Hamilton BK, Rybicki L, Arai S, et al. Association of Socioeconomic Status with Chronic Graftversus-Host Disease Outcomes. Biol Blood Marrow Transplant. 2017. PMID: 29032275
  38. Lee SJ. Classification systems for chronic graft-versus-host disease. Blood. 2017;129(1):30-37. PMID: 27821503, PMCID: PMC5216262
  39. Lee SJ, Nguyen TD, Onstad L, et al. Success of Immunosuppressive Treatments in Patients with Chronic Graft-versus-Host Disease. Biol Blood Marrow Transplant. 2017. PMID: 29133250
  40. Martin PJ, Storer BE, Inamoto Y, et al. An endpoint associated with clinical benefit after initial treatment of chronic graft-versus-host disease. Blood. 2017;130(3):360-367. PMID: 28495794, PMCID: PMC5520473
  41. Holtan SG, DeFor TE, Panoskaltsis-Mortari A, et al. Amphiregulin modifies the Minnesota Acute Graft-versus-Host Disease Risk Score: results from BMT CTN 0302/0802. Blood advances. 2018;2(15):1882-1888. PMID: 30087106, PMCID: PMC6093743

Book Chapters

  1. Paulson H. Molecular genetics of the ataxias. In: Watts R, Standaerdt D, Obeso J, eds. Movement Disorders. 3rd ed: McGraw-Hill Professional; 2009.

Abstracts Presented at Conferences

  1. Figueroa K, Gomez C, Paulson H, Perlman S, Schmahmann J, Subramony SH, Wilmot G, Zesiewicz T, Ashizawa T, Pulst S. Prior Molecular Diagnostic Accuracy and Age of Disease Onset Variation in the CRC−SCA, a Multicenter Study of Spinocerebellar Ataxias. Paper presented at: American Academy of Neurology 64th Annual Meeting; April 21-28, 2012; New Orleans, LA.
  2. Ashizawa T, Perlman S, Gomez C, Wilmot G, Schmahmann J, Ying S, Zesiewicz T, Paulson H, Shakkottai VG, Bushara K, Mazzoni P, Kuo S, Pulst S, Figueroa K, Xia G, Krischer J, Cuthbertson D, Holbert AR, Ferguson J, Galpern W, Subramony SH. Clinical Characteristics of Spinocerebellar Ataxias 1, 2, 3 and 6. Paper presented at: American Academy of Neurology 64th Annual Meeting; April 21-28, 2012; New Orleans, LA.

Journal Articles

  1. Thyagarajan B, Bower M, Berger M, Jones S, Dolan M, Wang X. A novel polymorphism in the FMR1 gene: implications for clinical testing of fragile X syndrome. Arch. Pathol. Lab. Med. Jan 2008;132(1):95-98. PMID: 18181681
  2. Liu T, Xu D, Ashe J, Bushara K. Specificity of inferior olive response to stimulus timing. J. Neurophysiol. Sep 2008;100(3):1557-1561. PMID: 18632890, PMCID: PMC2544464
  3. Williams AJ, Paulson HL. Polyglutamine neurodegeneration: protein misfolding revisited. Trends Neurosci. Oct 2008;31(10):521-528. PMID: 18778858, PMCID: PMC2580745
  4. Shakkottai VG, Xiao M, Xu L, Wong M, Nerbonne JM, Ornitz DM, Yamada KA. FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons. Neurobiol. Dis. Jan 2009;33(1):81-88. PMID: 18930825, PMCID: PMC2652849
  5. Todi SV, Winborn BJ, Scaglione KM, Blount JR, Travis SM, Paulson HL. Ubiquitination directly enhances activity of the deubiquitinating enzyme ataxin-3. EMBO J. Feb 18 2009;28(4):372382. PMID: 19153604, PMCID: PMC2646149
  6. Williams AJ, Knutson TM, Colomer Gould VF, Paulson HL. In vivo suppression of polyglutamine neurotoxicity by C-terminus of Hsp70-interacting protein (CHIP) supports an aggregation model of pathogenesis. Neurobiol. Dis. Mar 2009;33(3):342-353. PMID: 19084066, PMCID: PMC2662361
  7. Paulson HL. The spinocerebellar ataxias. J. Neuroophthalmol. Sep 2009;29(3):227-237. PMID: 19726947, PMCID: PMC2739122
  8. Shakkottai VG, Paulson HL. Physiologic alterations in ataxia: channeling changes into novel therapies. Arch. Neurol. Oct 2009;66(10):1196-1201. PMID: 19822774, PMCID: PMC2762109
  9. D'Abreu A, Franca MC, Jr., Paulson HL, Lopes-Cendes I. Caring for Machado-Joseph disease: current understanding and how to help patients. Parkinsonism Relat. Disord. Jan 2010;16(1):2-7. PMID: 19811945, PMCID: PMC2818316
  10. Todd PK, Paulson HL. RNA-mediated neurodegeneration in repeat expansion disorders. Ann. Neurol. Mar 2010;67(3):291-300. PMID: 20373340, PMCID: PMC2852186
  11. Elrick MJ, Pacheco CD, Yu T, Dadgar N, Shakkottai VG, Ware C, Paulson HL, Lieberman AP. Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration. Hum. Mol. Genet. Mar 1 2010;19(5):837-847. PMID: 20007718, PMCID: PMC2816612
  12. Oz G, Nelson CD, Koski DM, Henry PG, Marjanska M, Deelchand DK, Shanley R, Eberly LE, Orr HT, Clark HB. Noninvasive detection of presymptomatic and progressive neurodegeneration in a mouse model of spinocerebellar ataxia type 1. J. Neurosci. Mar 10 2010;30(10):3831-3838. PMID: 20220018, PMCID: PMC2846771
  13. Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR. Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov. Disord. Mar 15 2010;25(4):426432. PMID: 20063431, PMCID: PMC2954653
  14. Oz G, Hutter D, Tkac I, Clark HB, Gross MD, Jiang H, Eberly LE, Bushara KO, Gomez CM. Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status. Mov. Disord. Jul 15 2010;25(9):1253-1261. PMID: 20310029, PMCID: PMC2916651
  15. Iltis I, Hutter D, Bushara KO, Clark HB, Gross M, Eberly LE, Gomez CM, Oz G. (1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. Brain Res. Oct. 28 2010;1358:200-210. PMID: 20713024, PMCID: PMC2949538
  16. Wu X, Nestrasil I, Ashe J, Tuite P, Bushara K. Inferior olive response to passive tactile and visual stimulation with variable interstimulus intervals. Cerebellum. Dec 2010;9(4):598-602. PMID: 20730634
  17. Teive HA, Munhoz RP, Raskin S, Arruda WO, de Paola L, Werneck LC, Ashizawa T. Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients. Mov. Disord. Dec 15 2010;25(16):2875-2878. PMID: 20818609, PMCID: PMC3000879
  18. Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS. Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. Hum. Mutat. Feb 2011;32(2):152-167. PMID: 20848652
  19. Oz G, Tkac I. Short-echo, single-shot, full-intensity proton magnetic resonance spectroscopy for neurochemical profiling at 4 T: validation in the cerebellum and brainstem. Magn. Reson. Med. Apr 2011;65(4):901-910. PMID: 21413056, PMCID: PMC3827699
  20. Oz G, Iltis I, Hutter D, Thomas W, Bushara KO, Gomez CM. Distinct neurochemical profiles of spinocerebellar ataxias 1, 2, 6, and cerebellar multiple system atrophy. Cerebellum. Jun 2011;10(2):208-217. PMID: 20838948, PMCID: PMC3089811
  21. Bower MA, Bushara K, Dempsey MA, Das S, Tuite PJ. Novel mutations in siblings with lateronset PLA2G6-associated neurodegeneration (PLAN). Mov. Disord. Aug 1 2011;26(9):17681769. PMID: 21520282
  22. Moscovich M, Munhoz RP, Teive HA, Raskin S, Carvalho Mde J, Barbosa ER, Ranvaud R, Liu J, McFarland K, Ashizawa T, Lees AJ, Silveira-Moriyama L. Olfactory impairment in familial ataxias. J. Neurol. Neurosurg. Psychiatry. Oct 2012;83(10):970-974. PMID: 22791905, PMCID: PMC3521149
  23. Xia G, Santostefano KE, Goodwin M, Liu J, Subramony SH, Swanson MS, Terada N, Ashizawa T. Generation of neural cells from DM1 induced pluripotent stem cells as cellular model for the study of central nervous system neuropathogenesis. Cellular reprogramming. Apr 2013;15(2):166-177. PMID: 23550732, PMCID: PMC3616452
  24. Ashizawa T, Figueroa KP, Perlman SL, et al. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet J. Rare Dis. Nov 13 2013;8(1):177. PMID: 24225362, PMCID: PMC3843578

Abstracts Presented at Conferences

  1. Herr B, Malloy J, Cleland J, Krischer J. Automated tools for data collection and management in clinical research studies of Andersen-Tawil syndrome: improving protocol compliance and data quality. Paper presented at: Inventory and Evaluation of Clinical Research Networks; May 31, 2006; Washington, DC.
  2. Herr B, Richesson R, Krischer J, Griggs RC, Consortium tC. A research network for the experimental therapeutics of rare neurologic disorders. Paper presented at: 9th Annual Meeting of the American Society for Experimental NeuroTherapeutics (ASENT); March 8-10, 2007; Washington, DC.
  3. Walsh R, Statland J, Wang Y, Bundy B, Barohn RJ, group tCs. The nondystrophic myotonias: genotype-phenotype correlation and longitudinal study. Clinical phenotype characterization. Paper presented at: 59th American Academy of Neurology Meeting,; April 28-May 5, 2007; Boston, MA.
  4. Wang Y, Statland J, Walsh R, Barohn RJ, Group CS. Interactive voice response diary and objective myotonia measurement as endpoints for clinical trials in nondystrophic myotonia. Paper presented at: 59th American Academy of Neurology Meeting; April 28-May 5, 2007; Boston, MA.
  5. Trivedi J, Statland J, Cannon S, Bundy B, Wang Y, Barohn R. Nondystrophic myotonic disorders: assessment of myotonia and warm-up phenomenon in various subtypes. Paper presented at: American Academy of Neurology; April 12-19, 2008; Chicago, IL.
  6. Venance SL, LaDonna KA, Matthews E, Y W, B B, Barohn R. Nondystrophic myotonias: measuring quality of life in a longitudinal natural history study. Neurology. 2009;72(Supplement 3).
  7. Cialfoni E, Rajakuledran S, Sansone V, Trivedi J, Venance S, Tristani-Firouzi M, Bundy B, Hart K, Meola G, Griggs R, CINCH Consortium. Preliminary results of Andersen-Tawil Syndrome genotype-phenotype longitudinal study from the Consortium for Clinical Investigation of Neurologic Channelopathies (CINCH). Paper presented at: World Congress of Neurology; November 12-17, 2011; Marrakesh, Morocco.
  8. Graves T, Cha Y, Hahn A, Barohn RJ, Amato A, Griggs R, Bundy B, Jen JC, Baloh R, Hanna M. Episodic ataxia type 1: Characterization of the disease and its effect on quality of life. Paper presented at: American Academy of Neurology; April 21-28, 2012; New Orleans.
  9. Graves T, Fialho D, Smith S, Cha Y, Amato A, Griggs R, Bundy B, Jen JC, Baloh R, Hanna M. EEG abnormalities in the episodic ataxias. Paper presented at: American Academy of Neurology; April 21-28, 2012; New Orleans, LA.
  10. Trivedi J, Bundy B, Rayan DR, Salajegheh M, Statland JM, Venance S, Wang Y, Fialho D, Hart K, Gorham N, Herbelin L, Amato A, Hanna M, Griggs R, Barohn RJ. Clinical and molecular characterization of non-dystrophic myotonia. Paper presented at: American Academy of Neurology; April 25, 2012; New Orleans, LA.
  11. Statland JM, Salajegheh M, Bundy B, Wang Y, Rayan DR, Trivedi J, Sansone V, Venance S, Cialfoni E, Matthews E, Meola G, Zanolini A, Ciocca M, Herbelin L, Griggs R, Barohn RJ, Hanna M, CINCH Consortium. Phase II therapeutic trial of Mexiletine in non-dystrophic myotonia: secondary outcomes show improvement in symptoms and signs of myotonia. Paper presented at: American Academy of Neurology; April 26, 2012; New Orleans, LA.

Journal Articles

  1. Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology. Jan 13 2004;62(1):17-22. PMID: 14718690
  2. Venance SL, Herr BE, Griggs RC. Challenges in the design and conduct of therapeutic trials in channel disorders. Neurotherapeutics. Apr 2007;4(2):199-204. PMID: 17395129
  3. Cha YH, Baloh RW. Migraine associated vertigo. J Clin Neurol. Sep 2007;3(3):121-126. PMID: 19513278, PMCID: PMC2686840
  4. Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. Oct 2007;130(Pt 10):2484-2493. PMID: 17575281
  5. Craig K, Elliott HR, Keers SM, Lambert C, Pyle A, Graves TD, Woodward C, Sweeney MG, Davis MB, Hanna MG, Chinnery PF. Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. J. Med. Genet. Dec 2007;44(12):797-799. PMID: 18055910, PMCID: PMC2652821
  6. Jen JC. Recent advances in the genetics of recurrent vertigo and vestibulopathy. Curr. Opin. Neurol. Feb 2008;21(1):3-7. PMID: 18180645
  7. Jen JC. Hereditary episodic ataxias. Ann. N. Y. Acad. Sci. Oct 2008;1142:250-253. PMID: 18990130
  8. Fialho D, Kullmann DM, Hanna MG, Schorge S. Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita. Neuromuscul. Disord. Nov 2008;18(11):869-872. PMID: 18815035
  9. Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA. Clinical research for rare disease: opportunities, challenges, and solutions. Mol. Genet. Metab. Jan 2009;96(1):20-26. PMID: 19013090, PMCID: PMC3134795
  10. de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM. Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch. Neurol. Jan 2009;66(1):97-101. PMID: 19139306
  11. Meola G, Hanna MG, Fontaine B. Diagnosis and new treatment in muscle channelopathies. J. Neurol. Neurosurg. Psychiatry. Apr 2009;80(4):360-365. PMID: 19289476
  12. Cha YH, Lee H, Santell LS, Baloh RW. Association of benign recurrent vertigo and migraine in 208 patients. Cephalalgia. May 2009;29(5):550-555. PMID: 19170697, PMCID: PMC2820365
  13. Jen JC, Baloh RW. Familial episodic ataxia: a model for migrainous vertigo. Ann. N. Y. Acad. Sci. May 2009;1164:252-256. PMID: 19645908
  14. Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. Neurology. May 5 2009;72(18):1544-1547. PMID: 19118277, PMCID: PMC2848101
  15. Rajakulendran S, Tan SV, Matthews E, Tomlinson SE, Labrum R, Sud R, Kullmann DM, Schorge S, Hanna MG. A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A. Neurology. Sep 22 2009;73(12):993-995. PMID: 19770477, PMCID: PMC2754337
  16. Tomlinson SE, Hanna MG, Kullmann DM, Tan SV, Burke D. Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo. Clin. Neurophysiol. Oct 2009;120(10):1768-1776. PMID: 19734086
  17. Platt D, Griggs R. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. Curr. Opin. Neurol. Oct 2009;22(5):524-531. PMID: 19571750, PMCID: PMC2763141
  18. Cha YH. Mal de debarquement. Semin. Neurol. Nov 2009;29(5):520-527. PMID: 19834863, PMCID: PMC2846419
  19. Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain. Jan 2010;133(Pt 1):9-22. PMID: 19917643, PMCID: PMC2801326
  20. Ryan DP, da Silva MR, Soong TW, Fontaine B, Donaldson MR, Kung AW, Jongjaroenprasert W, Liang MC, Khoo DH, Cheah JS, Ho SC, Bernstein HS, Maciel RM, Brown RH, Jr., Ptacek LJ. Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell. Jan 8 2010;140(1):88-98. PMID: 20074522, PMCID: PMC2885139
  21. Zhou H, Lillis S, Loy RE, Ghassemi F, Rose MR, Norwood F, Mills K, Al-Sarraj S, Lane RJ, Feng L, Matthews E, Sewry CA, Abbs S, Buk S, Hanna M, Treves S, Dirksen RT, Meissner G, Muntoni F, Jungbluth H. Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul. Disord. Mar 2010;20(3):166-173. PMID: 20074522, PMCID: PMC2885139
  22. Cha YH. Migraine-associated vertigo: diagnosis and treatment. Semin. Neurol. Apr 2010;30(2):167-174. PMID: 20352586
  23. Rajakulendran S, Graves TD, Labrum RW, Kotzadimitriou D, Eunson L, Davis MB, Davies R, Wood NW, Kullmann DM, Hanna MG, Schorge S. Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. J. Physiol. Jun 1 2010;588(Pt 11):19051913. PMID: 20156848, PMCID: PMC2901979
  24. Matthews E, Hanna MG. Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis? J. Physiol. Jun 1 2010;588(Pt 11):1879-1886. PMID: 20123788, PMCID: PMC2901976
  25. Hess EJ, Jen JC, Jinnah HA, Benarroch EE. Neuronal voltage-gated calcium channels: brief overview of their function and clinical implications in neurology. Neurology. Sep 7 2010;75(10):937; author reply 937-938. PMID: 20820007
  26. Tomlinson SE, Tan SV, Kullmann DM, Griggs RC, Burke D, Hanna MG, Bostock H. Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. Brain. Dec 2010;133(Pt 12):3530-3540. PMID: 21106501, PMCID: PMC2995887
  27. Griggs RC. The AAN disciplinary process: indispensable to neurologists. Neurology. Dec 14 2010;75(24):2148-2149. PMID: 21084691
  28. Statland JM, Wang Y, Richesson R, Bundy B, Herbelin L, Gomes J, Trivedi J, Venance S, Amato A, Hanna M, Griggs R, Barohn RJ, The CINCH Consortium. An interactive voice response diary for patients with non-dystrophic myotonia. Muscle Nerve. 2011;44(1):30-35. PMID: 21674518, PMCID: PMC3233757
  29. Tan SV, Matthews E, Barber M, Burge JA, Rajakulendran S, Fialho D, Sud R, Haworth A, Koltzenburg M, Hanna MG. Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. Ann. Neurol. Feb 2011;69(2):328-340. PMID: 21387378, PMCID: PMC3051421
  30. Matthews E, Miller JA, MacLeod MR, Ironside J, Ambler G, Labrum R, Sud R, Holton JL, Hanna MG. Sodium and chloride channelopathies with myositis: coincidence or connection? Muscle Nerve. Aug 2011;44(2):283-288. PMID: 21698652, PMCID: PMC3136616
  31. Matthews E, Portaro S, Ke Q, Sud R, Haworth A, Davis MB, Griggs RC, Hanna MG. Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype. Neurology. Nov 29 2011;77(22):1960-1964. PMID: 22094484, PMCID: PMC3235354
  32. Platt D, Griggs RC. Use of acetazolamide in sulfonamide-allergic patients with neurologic channelopathies. Arch. Neurol. Apr 2012;69(4):527-529. PMID: 22158718, PMCID: PMC3785308
  33. Raja Rayan DL, Haworth A, Sud R, Matthews E, Fialho D, Burge J, Portaro S, Schorge S, Tuin K, Lunt P, McEntagart M, Toscano A, Davis MB, Hanna MG. A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. Neurology. Jun 12 2012;78(24):1953-1958. PMID: 22649220, PMCID: PMC3369509
  34. Tan SV, Z'Graggen W J, Boerio D, Rayan DL, Howard R, Hanna MG, Bostock H. Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. Muscle Nerve. Aug 2012;46(2):193-203. PMID: 22806368
  35. Murphy SM, Puwanant A, Griggs RC. Unintended effects of orphan product designation for rare neurological diseases. Ann. Neurol. Oct 2012;72(4):481-490. PMID: 23109143, PMCID: PMC3490440
  36. Statland JM, Bundy BN, Wang Y, Trivedi JR, Raja Rayan D, Herbelin L, Donlan M, McLin R, Eichinger KJ, Findlater K, Dewar L, Pandya S, Martens WB, Venance SL, Matthews E, Amato AA, Hanna MG, Griggs RC, Barohn RJ. A quantitative measure of handgrip myotonia in nondystrophic myotonia. Muscle Nerve. Oct 2012;46(4):482-489. PMID: 22987687, PMCID: PMC3564214
  37. Statland JM, Bundy BN, Wang Y, Rayan DR, Trivedi JR, Sansone VA, Salajegheh MK, Venance SL, Ciafaloni E, Matthews E, Meola G, Herbelin L, Griggs RC, Barohn RJ, Hanna MG. Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. JAMA. Oct 3 2012;308(13):1357-1365. PMID: 23032552, PMCID: PMC3564227
  38. Ke Q, Luo B, Qi M, Du Y, Wu W. Gender differences in penetrance and phenotype in hypokalemic periodic paralysis. Muscle Nerve. Jan 2013;47(1):41-45. PMID: 23019082
  39. Trivedi JR, Bundy B, Statland J, et al. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain. Jul 2013;136(Pt 7):2189-2200. PMID: 23771340, PMCID: PMC3692030

Journal Articles

  1. Ergun-Longmire B, Auchus R, Papari-Zareei M, Tansil S, Wilson RC, New MI. Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency. J. Clin. Endocrinol. Metab. Oct 2006;91(10):4179-4182. PMID: 16849412
  2. New MI. Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. Nov 2006;91(11):4205-4214. PMID: 16912124
  3. Nimkarn S, Lin-Su K, Berglind N, Wilson RC, New MI. Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. Jan 2007;92(1):137-142. PMID: 17032723
  4. Wilson RC, Nimkarn S, Dumic M, Obeid J, Azar MR, Najmabadi H, Saffari F, New MI. Ethnicspecific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to
  5. 21-hydroxylase deficiency. Mol. Genet. Metab. Apr 2007;90(4):414-421. PMID: 17275379, PMCID: PMC1885892
  6. Meyer-Bahlburg HF, Dolezal C. The female sexual function index: a methodological critique and suggestions for improvement. J. Sex Marital Ther. May-Jun 2007;33(3):217-224. PMID: 17454519
  7. Meyer-Bahlburg HF, Dolezal C, Baker SW, New MI. Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. Arch. Sex. Behav. Feb 2008;37(1):85-99. PMID: 18157628

Book Chapters

  1. Edvardsson VO, Palsson R, Sahota A. Adenine Phosphoribosyltransferase Deficiency. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. GeneReviews. Seattle WA: University of Washington, Seattle; 1993. PMID: 22934314
  2. Lieske JC, Milliner DS, Beara-Lasic L, Rossetti S. Dent Disease. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. GeneReviews. Seattle WA: University of Washington, Seattle; 1993. PMID: 22876375

Abstracts Presented at Conferences

  1. Edvardsson V, Gudbjartsson D, Indridason O, et al. Sequence Variants at the UMOD Gene Associate with Risk of Kidney Stone Disease. American Society of Nephrology Kidney Week. San Diego, CA 2009.
  2. Edvardsson V, Palsson R, Indridason O, Thorvaldsson S, Stefansson K. Familial Clustering of Kidney Stone Disease in Iceland. Biennial Meeting of The Nordic Society of Nephrology. Helsinki, Finland 2009.
  3. Indridason O, Gudbjartsson D, Edvardsson V, et al. The Association Between Chronic Kidney Disease and Sequence Variants in the UMOD Gene is Highly Dependent on Age. American Society of Nephrology Kidney Week. San Diego, CA 2009.
  4. Milliner D, Monico C, Bergstralh E, Lieske J. Urine oxalate variability in primary hyperoxaluria. American Society of Nephrology Kidney Week. San Diego, CA 2009.
  5. Monico C, Olson J, Bergstralh E, Heilman R, Milliner D. Effect of betaine on urine oxalate in primary hyperoxaluria, type I. American Society of Nephrology (ASN) Kidney Week. Philadelphia, PA 2011.
  6. Lieske J. How do kidney stones start? Paper presented at: Second International Istanbul Urolithiasis Days; February, 2011; Istanbul, Turkey.
  7. Lieske J. What can epidemiology teach us regarding the pathogenesis and consequences of kidney stones? Paper presented at: Second International Istanbul Urolithiasis Days; February, 2011; Istanbul, Turkey.
  8. Milliner D. Hyperoxaluria: an update. Paper presented at: Pediatric Nephrology Seminar XXXVIII; March, 2011; Miami Beach, Florida.
  9. Lewis M, Sahota A, Ward MD, Goldfarb DS, Holmes E, Want EJ. Characterization of small molecule aggregate components in cystine stones as a screen for candidate stone inhibitors. Paper presented at: American Society for Mass Spectrometry; June, 2011; Denver, CO.
  10. Milliner D. Effects of betaine as molecular chaperone in primary hyperoxaluria, type I. Paper presented at: Research on Calculus Kinetics Society; September, 2011; Boston, Massachusetts.
  11. Langman C, Vural G, Brooks E. Proteomics in genetic kidney stone disease. Paper presented at: 44th Annual Scientific Meeting of European Society of Paediatric Nephrology (ESPN); September 14-17, 2011; Dubrovnik, Croatia.
  12. Goldfarb D. Update on cystinuria: registry and new theraputic approaches. Paper presented at: Council of Pediatric Nephrology and Urology Meeting; October, 2011; New York.
  13. Sahota A, Yang M, Shikhel S, Kathuria N, Lewis M, Ward MD, Goldfarb DS, Tischfield JA. A new pharmacologic approach for cystinuria. Paper presented at: American Society for Human Genetics; October, 2011; Montreal, Canada.
  14. Sahota A, Yang M, Shikhel S, Lewis M, Goldfarb DS, Ward MD, Tischfield JA. Tailored inhibition of cystine stone formation as a therapy for cystinuria. Paper presented at: Society for the Study of Inborn Errors of Metabolism (SSIEM); November, 2011; United Kingdom.
  15. Sigurdsson B, Thorsteinsdottir M, Eiriksson FF, Edvardsson VO, Palsson R. Rapid method for determination of urinary 2,8-dihydroxyadenine concentration with by UPLC-MS/MS. Paper presented at: Annual Meeting of the European Bioanalysis Forum; November, 2011; Barcelona, Spain.
  16. Mattoo A, Modersitzki F, Asplin J, Cohen BH, Grasso M, Goldfarb DS. Clinical validation of a novel assay used for monitoring treatment of patients with cystinuria. Paper presented at: Annual meeting of the American Society of Nephrology; November, 2011; Philadelphia, PA.
  17. Chopra B, Amer H, Rodrigo E, Lieske J. Oxalosis after kidney transplantation in bariatric surgery patients: a retrospective analysis. American Society of Nephrology (ASN) Kidney Week. San Diego, CA2012.
  18. Edvardsson V. Clinical features and long-term renal outcome in Icelandic patients with APRT deficiency and 2,8-dihydroxyadeninuria. The 11th Congress of the European Society of Internal Medicine. Madrid, Spain 2012.
  19. Eirin A, Irazabal M, Lieske J, Nasr S, Sethi S, Fervenza F. Dent's Disease Presenting as Global Glomerulosclerosis. American Society of Nephrology (ASN) Kidney Week. San Diego, CA 2012.
  20. Lieske J. Kidney Stones 2012 Overview/ Summary. American Society of Nephrology Kidney Week. San Diego, CA 2012.
  21. Lieske J. Primary Hyperoxaluria: not such a rare disease? Research on Calculous Kinetics Society Session at the American Urological Association Meeting. Atlanta, GA 2012.
  22. Lieske J, Bergstralh E, Mehta R, Langman C, Milliner D. Determinants and outcome of renal calcification in primary hyperoxaluria. American Society of Nephrology (ASN) Kidney Week. San Diego 2012.
  23. Runolfsdottir H, Palsson R, Agustsdottir I, Edvardsson V. Clinical Features and Long-Term Renal Outcome in Icelandic Patients with APRT Deficiency and 2,8-Dihydroxyadeninuria. American Society of Nephrology (ASN) Kidney Week. San Diego, CA 2012.
  24. Edvardsson V. Rare causes of kidney stones and kidney failure: focus on APRT deficiency and 2, 8-dihydroxyadeninuria. Paper presented at: Symposium on Rare Disease, Annual Meeting of the Icelandic Medical Association; January, 2012; Reykjavic, Iceland.
  25. Lieske J. Stones from the inside out: what every urologist sees but few nephrologists know about. Paper presented at: Hong Kong Society of Nephrology, Renal Commissioned Training; January, 2012; Hong Kong, People's Republic of China.
  26. Goldfarb D. Cysinturia. Paper presented at: 12th International Symposium on Urolithiasis; May, 2012; Ouro Preto, Brazil.
  27. Lieske J. Hypertension and Urolithiasis. Paper presented at: 12th International Symposium on Urolithiasis; May, 2012; Ouro Preto, Brazil.
  28. Edvardsson VO, Sigurdsson B, Thorsteinsdottir M, Palsson R. Rapid determination of urinary 2,8-dihydroxyadenine with liquid chromatography - electrospray tandem mass spectrometry for monitoring of drug treatment. Paper presented at: The 49th Annual ERA-EDTA Congress; May, 2012; Paris, France.
  29. Cohen J, Goldfarb DS, Grasso M. Management of cystinuric patients in a dedicated stone clinic decreases stone events. Paper presented at: Annual Meeting of the American Urological Association; May, 2012; Atlanta, GA.
  30. Cohen J, Mattoo A, Modersitzki F, Asplin J, Goldfarb DS, Grasso M. Clinical validation of a novel assay used for monitoring treatment of patients with cystinuria. Paper presented at: Annual Meeting of the American Urological Association; May, 2012; Atlanta, GA.
  31. Tosetto E, Casarin A, Cristofaro R, Salviati L, Anglani F. The complexity of the 5’UTR region of CLCN5 gene: ten 5’UTR ends are differentially expressed in the human kidney. Paper presented at: 49th ERA-EDTA Congress; May, 2012; Paris, France.
  32. Thorsteinsdottir M, Sigurdsson B, Edvardsson VO, Palsson R. Chemometric optimization of UPLC-MS/MS assay for rapid determination of urinary 2,8-dihydroxyadenine for therapeutic drug monitoring of APRT deficient patients. . Paper presented at: The 60th ASMS Conference on Mass Spectrometry and Allied Topics; May 2012, 2012; Vancouver, BC, Canada.
  33. Lieske J. Primary hyperoxaluria: not such a rare disease? Paper presented at: Research on Calculous Kinetics Society Session at the American Urological Association Meeting; May, May 2012; Atlanta, GA.
  34. Edvardsson VO, Hardarson S, Palsson R. Renal histopathological findings in patients with 2, 8Dihydroxyadeninuria. Paper presented at: 49th Annual ERA-EDTA Congress; May 24-27, 2012; Paris, France.
  35. Milliner D. Future treatment options/studies. Paper presented at: 10th International Primary Hyperoxaluria Workshop; June, 2012; Bonn, Germany.
  36. Thorsteinsdottir M, Sigurdsson B, Eririksson F, Edvardsson VO, Palsson R. Rapid determination of urinary 2,8-dihydroxyadenine by UPLC-MS/MS for therapeutic drug monitoring of APRT deficient patients. Paper presented at: The XXXIII Meeting of the Nordic Society for Clinical Chemistry; June, 2012; Reykjavik, Iceland.
  37. Khoul S, Khandrika L, Meacham R, Olson J, Lieske JC, Milliner D. Culture of hepatocytes from primary hyperoxaluria type I liver. Paper presented at: 10th International Primary Hyperoxaluria Workshop; June, 2012; Bonn, Germany.
  38. Knight J, Riedel TJ, Lowther WT, Holmes RP. Measurement of 4-hydroxy-2-oxoglutarate in urine, liver and sera from primary hyperoxaluria type 3 patients Paper presented at: 10th International Primary Hyperoxaluria Workshop; June, 2012; Bonn, Germany.
  39. Lorenz E, Dyck PJ, Tracy J, Milliner D. Progressive demyelinating polyradiculoneuropathy due to intraneural oxalate deposition in two patients with type I primary hyperoxaluria (PHI). Paper presented at: 10th International Primary Hyperoxaluria Workshop; June, 2012; Bonn, Germany.
  40. Cornell LD, Pamidi N, Nasr SH, Milliner D. Features of recurrent oxalosis in the renal allograft. Paper presented at: 10th International Primary Hyperoxaluria Workshop; June, 2012; Bonn, Germany.
  41. Edvardsson V. APRT deficiency and dihydroxyadeninuria: an underrecognized cause of kidney stones and CKD. Paper presented at: Annual Meeting of the ROCK Society; September, 2012; Indianapolis, Indiana.
  42. Milliner D. Crystal nephropathies and chameleons. Paper presented at: 8th Uruguayan Congress of Nephrology; September, 2012; Montevideo, Uruguay.
  43. Milliner D. Kids and stones and bones. Paper presented at: 8th Uruguyan Congress of Nephrology; September, 2012; Montevideo, Uruguay.
  44. Edvardsson VO, Hardarson S, Palsson R. Renal histopathological findings in patients with 2,8 dihydroxyadeninuria. Paper presented at: European Society For Pediatric Nephrology; September, 2012; Krakow, Poland.
  45. Edvardsson V, Agustsdottir I, Palsson R. Childhood presentation and renal outcome of APRT deficiency (2,8-Dihydroxyadeninuria) in Iceland. Paper presented at: European Society For Pediatric Nephrology, 45th Annual Meeting; September, 2012; Krakow, Poland.
  46. Thorsteinsdottir M, Bragi Sigurdsson B, Eiriksson FF, Edvardsson VO, Palsson R. Chemometric optimization of UPLC-MS/MS assay for evaluation of rare causes of kidney stones and kidney failure. Paper presented at: Waters 3rd Nordic MS Symposium; Sept 11-12, 2012; Jurmala, Latvia.
  47. Edvardsson V. Clincal features and long-term renal outcome of Islandic patients with APRT deficiency and 2,8-dihydroxyadeninuria. Paper presented at: 11th Congress of the European Society of Internal Medicine; October, 2012; Madrid, Spain.
  48. Runolfsdottir H, Edvardsson VO, Hardarson S, Palsson R. Renal histopathological findings in patients with 2,8-dihydroxyadeninuria. Paper presented at: The 11th Congress of the European Society of Internal Medicine; October, 2012; Madrid, Spain.
  49. Edvardsson VO, Runolfsdottir H, Agustsdottir I, Palsson R. Long-term renal outcome in patients with APRT deficiency and 2,8-dihydroxyadeninuria. Paper presented at: Annual Meeting of The American Society of Nephrology; November, 2012; San Diego, CA.
  50. Edvardsson V. APRT deficiency. Nordic Society of Nephrology 32nd Biennial Congress. Reykjavik, Iceland 2013.
  51. Lieske J. Bariatric Surgery and Nephrolithiasis. Nephrolithiasis: a systemic disorder. Rome, Italy 2013.
  52. Lieske J. Dent Disease. Nordic Society of Nephrology 32nd Biennial Congress. Reykjavik, Iceland 2013.
  53. Milliner D. Primary Hyperoxlauria. Nordic Society of Nephrology 32nd Biennial Congress. Reykjavik, Iceland 2013.
  54. Thorsteinsdottir M. Quantification of Purine Biomarkers by UPLC-MS/MS for Clinical Diagnostic of Rare Kidney Stones and Kidney Failure. 61st ASMS Conference on Mass Spectrometry. Minneapolis, MN 2013.

Journal Articles

  1. Hoppe B, Beck BB, Milliner DS. The primary hyperoxalurias. Kidney Int. Jun 2009;75(12):12641271. PMID: 19225556, PMCID: PMC4577278
  2. Mookadam F, Kheir ME, Alharthi M, Moustafa S, Kazmier FJ, McBain R, Mookadam M, Tajik J, Milliner DS. Vascular Involvement in Primary Hyperoxalosis: An Evidence Based Sytematic Overview Over a Fifty Year Span. Nephro Urol Mon. 2010;02(03):390-396.
  3. Nasr SH, Sethi S, Cornell LD, Milliner DS, Boelkins M, Broviac J, Fidler ME. Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. Nephrol. Dial. Transplant. Jun 2010;25(6):1909-1915. PMID: 0064951
  4. Chillaron J, Font-Llitjos M, Fort J, Zorzano A, Goldfarb DS, Nunes V, Palacin M. Pathophysiology and treatment of cystinuria. Nature reviews. Nephrology. Jul 2010;6(7):424-434. PMID: 20517292
  5. Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y. Mutations in DHDPSL are responsible for primary hyperoxaluria type III. Am. J. Hum. Genet. Sep 10 2010;87(3):392399. PMID: 20797690, PMCID: PMC2933339
  6. Rimer JD, An Z, Zhu Z, Lee MH, Goldfarb DS, Wesson JA, Ward MD. Crystal growth inhibitors for the prevention of L-cystine kidney stones through molecular design. Science. Oct 15 2010;330(6002):337-341. PMID: 20947757, PMCID: PMC5166609
  7. Bergstralh EJ, Monico CG, Lieske JC, Herges RM, Langman CB, Hoppe B, Milliner DS. Transplantation outcomes in primary hyperoxaluria. Am. J. Transplant. Nov 2010;10(11):24932501. PMID: 20849551, PMCID: PMC2965313
  8. Mookadam F, Smith T, Jiamsripong P, Moustafa SE, Monico CG, Lieske JC, Milliner DS. Cardiac abnormalities in primary hyperoxaluria. Circ. J. Nov 2010;74(11):2403-2409. PMID: 20921818
  9. Anglani F, Del Prete D, Peruzzi L. [Participation in the International Dent's disease registry: clinical spin-offs and research prospects]. Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia. Jan-Feb 2011;28(1):7-8. PMID: 21341234
  10. Lee HJ, Jeong SJ, Lee EO, Bae H, Lieske JC, Kim SH. 1,2,3,4,6-Penta-O-galloyl-beta-D-glucose reduces renal crystallization and oxidative stress in a hyperoxaluric rat model. Kidney Int. Mar 2011;79(5):538-545. PMID: 1085110
  11. Murphy S, Reilly MM. Amyloid neuropathies. Advances in Clinical Neuroscience and Rehabilitation. March/April 2011;11(1):16-19.
  12. Coe FL, Evan A, Worcester E. Pathophysiology-based treatment of idiopathic calcium kidney stones. Clin. J. Am. Soc. Nephrol. Aug 2011;6(8):2083-2092. PMID: 21825103, PMCID: PMC5825183
  13. Rule AD, Krambeck AE, Lieske JC. Chronic kidney disease in kidney stone formers. Clin. J. Am. Soc. Nephrol. Aug 2011;6(8):2069-2075. PMID: 21784825, PMCID: PMC3156433
  14. Goldfarb DS. Potential pharmacologic treatments for cystinuria and for calcium stones associated with hyperuricosuria. Clin. J. Am. Soc. Nephrol. Aug 2011;6(8):2093-2097. PMID: 21757641, PMCID: PMC3156434
  15. Monico CG, Rossetti S, Belostotsky R, Cogal AG, Herges RM, Seide BM, Olson JB, Bergstrahl EJ, Williams HJ, Haley WE, Frishberg Y, Milliner DS. Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. Clin. J. Am. Soc. Nephrol. Sep 2011;6(9):2289-2295. PMID: 21896830, PMCID: PMC3358997
  16. Hoppe B, Groothoff JW, Hulton SA, Cochat P, Niaudet P, Kemper MJ, Deschenes G, Unwin R, Milliner D. Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria. Nephrol. Dial. Transplant. Nov 2011;26(11):3609-3615. PMID: 21460356
  17. Lee HJ, Jeong SJ, Park MN, Linnes M, Han HJ, Kim JH, Lieske JC, Kim SH. Gallotannin suppresses calcium oxalate crystal binding and oxalate-induced oxidative stress in renal epithelial cells. Biol. Pharm. Bull. 2012;35(4):539-544. PMID: 22466558, PMCID: PMC3910304
  18. Beara-Lasic L, Edvardsson V, Palsson R, Lieske J, Goldfarb D, Milliner D. Genetic Causes of Kidney Stones and Kidney Failure. Clinical Reviews in Bone and Mineral Metabolism. 2012;10(1):2-18.
  19. de Cogain M, Krambeck AE, Rule AD, Li X, Bergstralh EJ, Gettman MT, Lieske JC. Shock wave lithotripsy and diabetes mellitus: a population-based cohort study. Urology. Feb 2012;79(2):298-302. PMID: 22088569, PMCID: PMC3274621
  20. Monico CG, Milliner DS. Genetic determinants of urolithiasis. Nature reviews. Nephrology. Mar 2012;8(3):151-162. PMID: 22183508, PMCID: PMC3901084
  21. Schinstock CA, Semret MH, Wagner SJ, et al. Urinalysis is more specific and urinary neutrophil gelatinase-associated lipocalin is more sensitive for early detection of acute kidney injury. Nephrol. Dial. Transplant. May 2013;28(5):1175-1185. PMID: 22529161
  22. Rule AD, Sasiwimonphan K, Lieske JC, Keddis MT, Torres VE, Vrtiska TJ. Characteristics of renal cystic and solid lesions based on contrast-enhanced computed tomography of potential kidney donors. Am. J. Kidney Dis. May 2012;59(5):611-618. PMID: 22398108, PMCID: PMC3328591
  23. Dwyer ME, Krambeck AE, Bergstralh EJ, Milliner DS, Lieske JC, Rule AD. Temporal trends in incidence of kidney stones among children: a 25-year population based study. J. Urol. Jul 2012;188(1):247-252. PMID: 22595060, PMCID: PMC3482509
  24. Pang R, Linnes MP, O'Connor HM, Li X, Bergstralh E, Lieske JC. Controlled metabolic diet reduces calcium oxalate supersaturation but not oxalate excretion after bariatric surgery. Urology. Aug 2012;80(2):250-254. PMID: 22554593, PMCID: PMC3411876
  25. El-Zoghby ZM, Lieske JC, Foley RN, Bergstralh EJ, Li X, Melton LJ, 3rd, Krambeck AE, Rule AD. Urolithiasis and the Risk of ESRD. Clin. J. Am. Soc. Nephrol. Sep 2012;7(9):1409-1415. PMID: 22745275, PMCID: PMC3430957
  26. Riedel TJ, Knight J, Murray MS, Milliner DS, Holmes RP, Lowther WT. 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. Biochim. Biophys. Acta. Oct 2012;1822(10):1544-1552. PMID: 22771891, PMCID: PMC3418427
  27. Edvardsson VO, Indridason OS, Haraldsson G, Kjartansson O, Palsson R. Temporal trends in the incidence of kidney stone disease. Kidney Int. Jan 2013;83(1):146-152. PMID: 22992468
  28. Lorenz EC, Michet CJ, Milliner DS, Lieske JC. Update on oxalate crystal disease. Curr. Rheumatol. Rep. Jul 2013;15(7):340. PMID: 23666469, PMCID: PMC3710657
  29. Sumorok N, Goldfarb DS. Update on cystinuria. Curr. Opin. Nephrol. Hypertens. Jul 2013;22(4):427-431. PMID: 23666417, PMCID: PMC4514483
  30. Liu X, Arguelles L, Zhou Y, et al. Longitudinal trajectory of vitamin D status from birth to early childhood in the development of food sensitization. Pediatr. Res. Sep 2013;74(3):321-326. PMID: 23797532, PMCID: PMC3773018
  31. Edvardsson VO, Goldfarb DS, Lieske JC, et al. Hereditary causes of kidney stones and chronic kidney disease. Pediatr. Nephrol. Oct 2013;28(10):1923-1942. PMID: 23334384, PMCID: PMC4138059
  32. Fervenza FC. A patient with nephrotic-range proteinuria and focal global glomerulosclerosis. Clin. J. Am. Soc. Nephrol. Nov 2013;8(11):1979-1987. PMID: 23886564, PMCID: PMC3817907
  33. Worcester EM, Evan AP, Coe FL, et al. A test of the hypothesis that oxalate secretion produces proximal tubule crystallization in primary hyperoxaluria type I. Am. J. Physiol. Renal Physiol. Dec 1 2013;305(11):F1574-1584. PMID: 24089413, PMCID: PMC3882369
  34. Nasr SH, Milliner DS, Wooldridge TD, Sethi S. Triamterene crystalline nephropathy. Am. J. Kidney Dis. Jan 2014;63(1):148-152. PMID: 23958399
  35. Modersitzki F, Pizzi L, Grasso M, Goldfarb DS. Health-related quality of life (HRQoL) in cystine compared with non-cystine stone formers. Urolithiasis. Feb 2014;42(1):53-60. PMID: 24253538, PMCID: PMC4514515
  36. Tang X, Lieske JC. Acute and chronic kidney injury in nephrolithiasis. Curr. Opin. Nephrol. Hypertens. Jul 2014;23(4):385-390. PMID: 24848936, PMCID: PMC4096690
  37. Meeusen JW, Lieske JC. Looking for a better creatinine. Clin. Chem. Aug 2014;60(8):1036-1039. PMID: 24573605
  38. Fattah H, Hambaroush Y, Goldfarb DS. Cystine nephrolithiasis. Translational andrology and urology. Sep 1 2014;3(3):228-233. PMID: 25383320, PMCID: PMC4220544
  39. Ali FN, Falkner B, Gidding SS, Price HE, Keith SW, Langman CB. Fibroblast growth factor-23 in obese, normotensive adolescents is associated with adverse cardiac structure. J. Pediatr. Oct 2014;165(4):738-743 e731. PMID: 25063724, PMCID: PMC4177448
  40. Zaidan M, Palsson R, Merieau E, et al. Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure. Am. J. Transplant. Nov 2014;14(11):2623-2632. PMID: 25307253, PMCID: PMC4560835
  41. Ketha H, Singh RJ, Grebe SK, et al. Altered Calcium and Vitamin D Homeostasis in First-Time Calcium Kidney Stone-Formers. PLoS ONE. 2015;10(9):e0137350. PMID: 26332888, PMCID: PMC4558059
  42. Sigurjonsdottir VK, Runolfsdottir HL, Indridason OS, Palsson R, Edvardsson VO. Impact of nephrolithiasis on kidney function. BMC Nephrol. 2015;16:149. PMID: 26316205, PMCID: PMC4551564
  43. Berini SE, Tracy JA, Engelstad JK, Lorenz EC, Milliner DS, Dyck PJ. Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria. Muscle Nerve. Mar 2015;51(3):449-454. PMID: 25363903, PMCID: PMC4577279
  44. Carrasco A, Jr., Granberg CF, Gettman MT, Milliner DS, Krambeck AE. Surgical management of stone disease in patients with primary hyperoxaluria. Urology. Mar 2015;85(3):522-526. PMID: 25733260, PMCID: PMC4559267
  45. Deng F, Finer G, Haymond S, Brooks E, Langman CB. Applicability of estimating glomerular filtration rate equations in pediatric patients: comparison with a measured glomerular filtration rate by iohexol clearance. Transl. Res. Mar 2015;165(3):437-445. PMID: 25445208, PMCID: PMC4346435
  46. Tang X, Bergstralh EJ, Mehta RA, Vrtiska TJ, Milliner DS, Lieske JC. Nephrocalcinosis is a risk factor for kidney failure in primary hyperoxaluria. Kidney Int. Mar 2015;87(3):623-631. PMID: 25229337, PMCID: PMC4344931
  47. Lieske JC, Mehta RA, Milliner DS, Rule AD, Bergstralh EJ, Sarr MG. Kidney stones are common after bariatric surgery. Kidney Int. Apr 2015;87(4):839-845. PMID: 25354237, PMCID: PMC4382441
  48. Lee MH, Sahota A, Ward MD, Goldfarb DS. Cystine growth inhibition through molecular mimicry: a new paradigm for the prevention of crystal diseases. Curr. Rheumatol. Rep. May 2015;17(5):510. PMID: 25874348, PMCID: PMC4518543
  49. Kovacevic L, Lu H, Goldfarb DS, Lakshmanan Y, Caruso JA. Urine proteomic analysis in cystinuric children with renal stones. J. Pediatr. Urol. Aug 2015;11(4):217 e211-216. PMID: 26076823, PMCID: PMC4540695
  50. Hopp K, Cogal AG, Bergstralh EJ, et al. Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. J. Am. Soc. Nephrol. Oct 2015;26(10):2559-2570. PMID: 25644115, PMCID: PMC4587693
  51. Perinpam M, Ware EB, Smith JA, Turner ST, Kardia SL, Lieske JC. Effect of Demographics on Excretion of Key Urinary Factors Related to Kidney Stone Risk. Urology. Oct 2015;86(4):690696. PMID: 26206452, PMCID: PMC4592816
  52. Sahota A, Parihar JS, Capaccione KM, et al. Novel cystine ester mimics for the treatment of cystinuria-induced urolithiasis in a knockout mouse model. Urology. Nov 2014;84(5):1249 e1249-1215. PMID: 25443947, PMCID: PMC4498569
  53. Goldfarb DS, Hirsch J. Hypothesis: Urbanization and exposure to urban heat islands contribute to increasing prevalence of kidney stones. Med. Hypotheses. Dec 2015;85(6):953-957. PMID: 26372336, PMCID: PMC4648638
  54. Amin R, Eid L, Edvardsson VO, Fairbanks L, Moudgil A. An unusual cause of pink diapers in an infant: Questions and Answers. Pediatr Nephrol. 2016;31(4):575, 577-580. PMID: 25823987, PMCID: PMC4591217
  55. Barnett C, Nazzal L, Goldfarb DS, Blaser MJ. The Presence of Oxalobacter formigenes in the Microbiome of Healthy Young Adults. J. Urol. 2016;195(2):499-506. PMID: 26292041, PMCID: PMC4747808
  56. Giesen C, Lieske JC. The Influence of Processing and Storage Conditions on Renal Protein Biomarkers. Clin J Am Soc Nephrol. 2016;11(10):1726-1728. PMID: 27654929, PMCID: PMC5053796
  57. Hu L, Yang Y, Aloysius H, et al. l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria. J Med Chem. 2016;59(15):7293-7298. PMID: 27409142, PMCID: PMC5774851
  58. Kovacevic L, Lu H, Caruso JA, Lakshmanan Y. Renal Tubular Dysfunction in Pediatric Urolithiasis: Proteomic Evidence. Urology. 2016;92:100-105. PMID: 26892647, PMCID: PMC4891186
  59. Merkel PA, Manion M, Gopal-Srivastava R, et al. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J. Rare Dis. 2016;11(1):66. PMID: 27194034, PMCID: PMC4870759
  60. Scales CD, Jr., Tasian GE, Schwaderer AL, Goldfarb DS, Star RA, Kirkali Z. Urinary Stone Disease: Advancing Knowledge, Patient Care, and Population Health. Clin J Am Soc Nephrol. 2016;11(7):1305-1312. PMID: 26964844, PMCID: PMC4934851
  61. Thorsteinsdottir M, Thorsteinsdottir UA, Eiriksson FF, et al. Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency. J Chromatogr B Analyt Technol Biomed Life Sci. 2016;1036-1037:170-177. PMID: 27770717, PMCID: PMC5445224
  62. Wang X, Anglani F, Beara-Lasic L, et al. Glomerular Pathology in Dent Disease and Its Association with Kidney Function. Clin J Am Soc Nephrol. 2016;11(12):2168-2176. PMID: 27697782, PMCID: PMC5142066
  63. Whittamore JM, Hatch M. The role of intestinal oxalate transport in hyperoxaluria and the formation of kidney stones in animals and man. Urolithiasis. 2016;45(1):89-108. PMID: 27913853, PMCID: PMC5358548
  64. Zhao F, Bergstralh EJ, Mehta RA, et al. Predictors of Incident ESRD among Patients with Primary Hyperoxaluria Presenting Prior to Kidney Failure. Clin. J. Am. Soc. Nephrol. Jan 7 2016;11(1):119-126. PMID: 26656319, PMCID: PMC4702224
  65. Lieske JC, Turner ST, Edeh SN, Ware EB, Kardia SL, Smith JA. Heritability of dietary traits that contribute to nephrolithiasis in a cohort of adult sibships. Journal of nephrology. Feb 2016;29(1):45-51. PMID: 25963767, PMCID: PMC4643420
  66. Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO. Kidney Disease in Adenine Phosphoribosyltransferase Deficiency. Am. J. Kidney Dis. Mar 2016;67(3):431-438. PMID: 26724837, PMCID: PMC4819988
  67. Brooks ER, Hoppe B, Milliner DS, et al. Assessment of Urine Proteomics in Type 1 Primary Hyperoxaluria. Am. J. Nephrol. May 3 2016;43(4):293-303. PMID: 27161247, PMCID: PMC4904731
  68. Dhondup T, Lorenz EC, Milliner DS, Lieske JC. Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report. Am J Transplant. 2017. PMID: 28681512, PMCID: PMC5739996
  69. Edvardsson VO, Runolfsdottir HL, Thorsteinsdottir UA, et al. Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with APRT deficiency: A clinical trial. European journal of internal medicine. 2017. PMID: 29241594, PMCID: PMC5817015
  70. Gianesello L, Priante G, Ceol M, et al. Albumin uptake in human podocytes: a possible role for the cubilin-amnionless (CUBAM) complex. Scientific reports. 2017;7(1):13705. PMID: 29057905, PMCID: PMC5651885
  71. Goldfarb DS. Refining Diagnostic Approaches in Nephrolithiasis: Incomplete Distal Renal Tubular Acidosis. Clin J Am Soc Nephrol. 2017;12(9):1380-1382. PMID: 28775128, PMCID: PMC5586576
  72. Goldfarb DS, Grasso M. Case Study - Case Studies in Cystinuria. Urol Nurs. 2017;37(2):90-93. PMID: 29240374, PMCID: PMC5764755
  73. Goldstein B, Goldfarb DS. Early Recognition and Management of Rare Kidney Stone Disorders. Urol Nurs. 2017;37(2):81-89, 102. PMID: 29240373, PMCID: PMC5764757
  74. Mulay SR, Eberhard JN, Desai J, et al. Hyperoxaluria Requires TNF Receptors to Initiate Crystal Adhesion and Kidney Stone Disease. J Am Soc Nephrol. 2017;28(3):761-768. PMID: 27612997, PMCID: PMC5328164
  75. Perinpam M, Enders FT, Mara KC, et al. Plasma oxalate in relation to eGFR in patients with primary hyperoxaluria, enteric hyperoxaluria and urinary stone disease. Clin Biochem. 2017;50(18):1014-1019. PMID: 28764885, PMCID: PMC5705406
  76. Goldfarb DS. Empiric therapy for kidney stones. Urolithiasis. 2018. PMID: 30478476
  77. Kovacevic L, Caruso JA, Lu H, et al. Urine proteomic profiling in patients with nephrolithiasis and cystinuria. Int Urol Nephrol. 2018. PMID: 30519981
  78. Policastro LJ, Saggi SJ, Goldfarb DS, Weiss JP. Personalized Intervention in Monogenic Stone Formers. J Urol. 2018;199(3):623-632. PMID: 29061541, PMCID: PMC5910290
  79. Thorsteinsdottir M, Thorsteinsdottir UA, Eiriksson FF, et al. Corrigendum to "Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency" [J. Chromatogr. B 1036-1037 (2016) 170-177]. J Chromatogr B Analyt Technol Biomed Life Sci. 2018;1092:530. PMID: 29861153
  80. D'Costa MR, Winkler NS, Milliner DS, Norby SM, Hickson LJ, Lieske JC. Oxalosis Associated With High-Dose Vitamin C Ingestion in a Peritoneal Dialysis Patient. Am J Kidney Dis. 2019. PMID: 30910370
  81. Malieckal DA, Modersitzki F, Mara K, Enders FT, Asplin JR, Goldfarb DS. Effect of increasing doses of cystine-binding thiol drugs on cystine capacity in patients with cystinuria. Urolithiasis. 2019. PMID: 30980122
  82. Shen F, Zhao Y, Wang L, et al. Rare disease knowledge enrichment through a data-driven approach. BMC Med Inform Decis Mak. 2019;19(1):32. PMID: 30764825, PMCID: PMC6376651

Book Chapters

  1. Krischer JP. Clinical trials for rare lung diseases. In: McCormack FX, Panos RJ, Trapnell BC, eds. Molecular Basis of Pulmonary Disease. 1st ed: Springer; 2010.

Journal Articles

  1. Krischer JP. Clinical trials for rare lung diseases. In: McCormack FX, Panos RJ, Trapnell BC, eds. Molecular Basis of Pulmonary Disease. 1st ed: Springer; 2010. Journal Articles
  2. Whitsett JA, Wert SE, Trapnell BC. Genetic disorders influencing lung formation and function at birth. Hum. Mol. Genet. Oct 1 2004;13 Spec No 2:R207-215. PMID: 15358727
  3. Uchida K, Beck DC, Yamamoto T, Berclaz PY, Abe S, Staudt MK, Carey BC, Filippi MD, Wert SE, Denson LA, Puchalski JT, Hauck DM, Trapnell BC. GM-CSF autoantibodies and neutrophil dysfunction in pulmonary alveolar proteinosis. N. Engl. J. Med. Feb 8 2007;356(6):567-579. PMID: 17287477
  4. Juvet SC, McCormack FX, Kwiatkowski DJ, Downey GP. Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am. J. Respir. Cell Mol. Biol. Apr 2007;36(4):398-408. PMID: 17099139, PMCID: PMC2176113
  5. Deterding R. Evaluating infants and children with interstitial lung disease. Semin. Respir. Crit. Care Med. Jun 2007;28(3):333-341. PMID: 17562503
  6. Trotta BM, Stolin AV, Williams MB, Gay SB, Brody AS, Altes TA. Characterization of the relation between CT technical parameters and accuracy of quantification of lung attenuation on quantitative chest CT. AJR. American Journal of Roentgenology. Jun 2007;188(6):1683-1690. PMID: 17515394
  7. Deutsch GH, Young LR, Deterding RR, Fan LL, Dell SD, Bean JA, Brody AS, Nogee LM, Trapnell BC, Langston C, Albright EA, Askin FB, Baker P, Chou PM, Cool CM, Coventry SC, Cutz E, Davis MM, Dishop MK, Galambos C, Patterson K, Travis WD, Wert SE, White FV. Diffuse lung disease in young children: application of a novel classification scheme. Am. J. Respir. Crit. Care Med. Dec 1 2007;176(11):1120-1128. PMID: 17885266, PMCID: PMC2176101
  8. Young LR, Inoue Y, McCormack FX. Diagnostic potential of serum VEGF-D for lymphangioleiomyomatosis. N. Engl. J. Med. Jan 10 2008;358(2):199-200. PMID: 18184970, PMCID: PMC3804557
  9. Inoue Y, Trapnell BC, Tazawa R, Arai T, Takada T, Hizawa N, Kasahara Y, Tatsumi K, Hojo M, Ichiwata T, Tanaka N, Yamaguchi E, Eda R, Oishi K, Tsuchihashi Y, Kaneko C, Nukiwa T, Sakatani M, Krischer JP, Nakata K. Characteristics of a large cohort of patients with autoimmune pulmonary alveolar proteinosis in Japan. Am. J. Respir. Crit. Care Med. Apr 1 2008;177(7):752762. PMID: 18202348, PMCID: PMC2720118
  10. Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, Smolarek T, Dishop MK, Wert SE, Whitsett JA, Grabowski G, Carey BC, Stevens C, van der Loo JC, Trapnell BC. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J. Exp. Med. Nov 24 2008;205(12):2703-2710. PMID: 18955570, PMCID: PMC2585845
  11. Schmithorst VJ, Altes TA, Young LR, Franz DN, Bissler JJ, McCormack FX, Dardzinski BJ, Brody AS. Automated algorithm for quantifying the extent of cystic change on volumetric chest CT: initial results in Lymphangioleiomyomatosis. AJR. American Journal of Roentgenology. Apr 2009;192(4):1037-1044. PMID: 19304711
  12. Trapnell BC, Carey BC, Uchida K, Suzuki T. Pulmonary alveolar proteinosis, a primary immunodeficiency of impaired GM-CSF stimulation of macrophages. Curr. Opin. Immunol. Oct 2009;21(5):514-521. PMID: 19796925, PMCID: PMC2779868
  13. Tazawa R, Trapnell BC, Inoue Y, Arai T, Takada T, Nasuhara Y, Hizawa N, Kasahara Y, Tatsumi K, Hojo M, Ishii H, Yokoba M, Tanaka N, Yamaguchi E, Eda R, Tsuchihashi Y, Morimoto K, Akira M, Terada M, Otsuka J, Ebina M, Kaneko C, Nukiwa T, Krischer JP, Akazawa K, Nakata K. Inhaled granulocyte/macrophage-colony stimulating factor as therapy for pulmonary alveolar proteinosis. Am. J. Respir. Crit. Care Med. Jun 15 2010;181(12):1345-1354. PMID: 20167854, PMCID: PMC2894410
  14. Ingelfinger JR, Drazen JM. Patient organizations and research on rare diseases. N. Engl. J. Med. Apr 28 2011;364(17):1670-1671. PMID: 21410388
  15. McCormack FX, Inoue Y, Moss J, et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N. Engl. J. Med. Apr 28 2011;364(17):1595-1606. PMID: 21410393, PMCID: PMC3118601
  16. Rosenbaum L. How Much Would You Give to Save a Dying Bird? Patient Advocacy and Biomedical Research. N. Engl. J. Med. 2012;367(18):1755-1759. PMID: 23113489
  17. Suzuki T, Arumugam P, Sakagami T, et al. Pulmonary macrophage transplantation therapy. Nature. Oct 23 2014;514(7523):450-454. PMID: 25274301, PMCID: PMC4236859
  18. Trapnell BC. A lymphocyte-mediated cause of secondary PAP. Blood. Jan 8 2015;125(2):215216. PMID: 25573969
  19. Fan LL, Dishop MK, Galambos C, et al. Diffuse Lung Disease in Biopsied Children 2 to 18 Years of Age. Application of the chILD Classification Scheme. Annals of the American Thoracic Society. Oct 2015;12(10):1498-1505. PMID: 26291470, PMCID: PMC4627419
  20. Saito A, Nikolaidis NM, Amlal H, et al. Modeling pulmonary alveolar microlithiasis by epithelial deletion of the Npt2b sodium phosphate cotransporter reveals putative biomarkers and strategies for treatment. Sci Transl Med. Nov 11 2015;7(313):313ra181. PMID: 26560359, PMCID: PMC4764987
  21. Argula RG, Kokosi M, Lo P, et al. A Novel Quantitative Computed Tomographic Analysis Suggests How Sirolimus Stabilizes Progressive Air Trapping in Lymphangioleiomyomatosis. Annals of the American Thoracic Society. 2016;13(3):342-349. PMID: 26799509, PMCID: PMC5015717
  22. Campo I, Luisetti M, Griese M, et al. A Global Survey on Whole Lung Lavage in Pulmonary Alveolar Proteinosis. Chest. 2016;150(1):251-253. PMID: 27396783, PMCID: PMC6026236
  23. Campo I, Luisetti M, Griese M, et al. Whole lung lavage therapy for pulmonary alveolar proteinosis: a global survey of current practices and procedures. Orphanet J Rare Dis. 2016;11(1):115. PMID: 27577926, PMCID: PMC5006612
  24. El-Chemaly S, Young LR. Hermansky-Pudlak Syndrome. Clin Chest Med. 2016;37(3):505-511. PMID: 27514596, PMCID: PMC4987498
  25. McCormack FX, Gupta N, Finlay GR, et al. Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management. Am J Respir Crit Care Med. 2016;194(6):748-761. PMID: 27628078, PMCID: PMC5803656
  26. O'Brien KJ, Lozier J, Cullinane AR, et al. Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. Mol Genet Metab. 2016;119(3):284-287. PMID: 27641950, PMCID: PMC5083180
  27. Osterburg AR, Nelson RL, Yaniv BZ, et al. NK cell activating receptor ligand expression in lymphangioleiomyomatosis is associated with lung function decline. JCI insight. 2016;1(16):e87270. PMID: 27734028, PMCID: PMC5053147
  28. Sahin M, Henske EP, Manning BD, et al. Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. Pediatr. Neurol. 2016;60:1-12. PMID: 27267556, PMCID: PMC4921275
  29. Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J. Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. Annals of the American Thoracic Society. 2016;13(10):1839-1846. PMID: 27529121, PMCID: PMC5466158
  30. Young LR, Trapnell BC, Mandl KD, Swarr DT, Wambach JA, Blaisdell CJ. Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research. Report from a National Institutes of Health-NHLBI Workshop, September 3 and 4, 2015. Annals of the American Thoracic Society. 2016;13(12):385-393. PMID: 27925785, PMCID: PMC5291498
  31. Cooley J, Lee YCG, Gupta N. Spontaneous pneumothorax in diffuse cystic lung diseases. Curr Opin Pulm Med. 2017;23(4):323-333. PMID: 28590337, PMCID: PMC5563542
  32. Gaskill CF, Carrier EJ, Kropski JA, et al. Disruption of lineage specification in adult pulmonary mesenchymal progenitor cells promotes microvascular dysfunction. J Clin Invest. 2017;127(6):2262-2276. PMID: 28463231, PMCID: PMC5451236
  33. Gupta N, Kopras EJ, Henske EP, et al. Spontaneous Pneumothoraces in Patients with Birt-HoggDube Syndrome. Annals of the American Thoracic Society. 2017;14(5):706-713. PMID: 28248571, PMCID: PMC5427741
  34. Gupta N, Langenderfer D, McCormack FX, Schauer DP, Eckman MH. Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective. Annals of the American Thoracic Society. 2017;14(1):17-25. PMID: 27737563, PMCID: PMC5461992
  35. Hetzel M, Suzuki T, Hashtchin AR, et al. Function and Safety of Lentivirus-Mediated Gene Transfer for CSF2RA-Deficiency. Human gene therapy methods. 2017;28(6):318-329. PMID: 28854814, PMCID: PMC5734162
  36. Kropski JA, Reiss S, Markin C, et al. Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families. Am J Respir Crit Care Med. 2017;196(11):1481-1484. PMID: 28414520, PMCID: PMC5736978
  37. Kropski JA, Young LR, Cogan JD, et al. Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis. Am J Respir Crit Care Med. 2017;195(11):1423-1428. PMID: 27786550, PMCID: PMC5470751
  38. Kugathasan S, Denson LA, Walters TD, et al. Prediction of complicated disease course for children newly diagnosed with Crohn's disease: a multicentre inception cohort study. Lancet. 2017;389(10080):1710-1718. PMID: 28259484, PMCID: PMC5719489
  39. Liu H, Jakubzick C, Osterburg AR, et al. Dendritic Cell Trafficking and Function in Rare Lung Diseases. Am J Respir Cell Mol Biol. 2017;57(4):393-402. PMID: 28586276, PMCID: PMC5650088
  40. McCormack FX, Gupta N, Finlay GR, et al. Reply: The ATS/JRS Guidelines on
  41. Lymphangioleiomyomatosis: Filling in the Gaps. Am J Respir Crit Care Med. 2017;196(5):660661. PMID: 28288285, PMCID: PMC5803663
  42. Mueller C, Gernoux G, Gruntman AM, et al. 5 Year Expression and Neutrophil Defect Repair after Gene Therapy in Alpha-1 Antitrypsin Deficiency. Mol Ther. 2017;25(6):1387-1394. PMID: 28408179, PMCID: PMC5474959
  43. Kropski JA, Blackwell TS. Endoplasmic reticulum stress in the pathogenesis of fibrotic disease. J Clin Invest. 2018;128(1):64-73. PMID: 29293089, PMCID: PMC5749533
  44. McCarthy C, Avetisyan R, Carey BC, Chalk C, Trapnell BC. Prevalence and healthcare burden of pulmonary alveolar proteinosis. Orphanet J Rare Dis. 2018;13(1):129. PMID: 30064481, PMCID: PMC6069872
  45. McCarthy C, Lee E, Bridges JP, et al. Statin as a novel pharmacotherapy of pulmonary alveolar proteinosis. Nature communications. 2018;9(1):3127. PMID: 30087322, PMCID: PMC6081448
  46. Sivley RM, Sheehan JH, Kropski JA, et al. Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia. BMC Bioinformatics. 2018;19(1):18. PMID: 29361909, PMCID: PMC5781290
  47. Wajda N, Gupta N. Air Travel-Related Spontaneous Pneumothorax in Diffuse Cystic Lung Diseases. Current pulmonology reports. 2018;7(2):56-62. PMID: 30859057, PMCID: PMC6407859
  48. Stearman RS, Cornelius AR, Young LR, et al. Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations In Context. Am J Respir Crit Care Med. 2019. PMID: 30985222

Journal Articles

  1. Ortel TL. Thrombosis and the antiphospholipid syndrome. Hematology Am Soc Hematol Educ Program. 2005:462-468. PMID: 16304421
  2. Potti A, Ramiah V, Ortel TL. Thrombophilia and thrombosis in thrombotic thrombocytopenic purpura. Semin. Thromb. Hemost. Dec 2005;31(6):652-658. PMID: 16388416
  3. Lewis DA, Pound ML, Ortel TL. The reactivity of paired plasma and serum samples are comparable in the anticardiolipin and anti-beta2-glycoprotein-1 ELISAs. J. Thromb. Haemost. Jan 2006;4(1):265-267. PMID: 16409482
  4. Arepally GM, Ortel TL. Clinical practice. Heparin-induced thrombocytopenia. N. Engl. J. Med. Aug 24 2006;355(8):809-817. PMID: 16928996
  5. Ortel TL. The antiphospholipid syndrome: what are we really measuring? How do we measure it? And how do we treat it? J. Thromb. Thrombolysis. Feb 2006;21(1):79-83. PMID: 16475047
  6. Potti A, Bild A, Dressman HK, Lewis DA, Nevins JR, Ortel TL. Gene-expression patterns predict phenotypes of immune-mediated thrombosis. Blood. Feb 15 2006;107(4):1391-1396. PMID: 16263789, PMCID: PMC1895419
  7. Perry SL, O'Shea SI, Byrne S, Szczech LA, Ortel TL. A multi-dose pharmacokinetic study of dalteparin in haemodialysis patients. Thromb. Haemost. Dec 2006;96(6):750-755. PMID: 17139369
  8. Welsby IJ, Jones WL, Arepally G, De Lange F, Yoshitani K, Phillips-Bute B, Grocott HP, Becker R, Mackensen GB. Effect of combined anticoagulation using heparin and bivalirudin on the hemostatic and inflammatory responses to cardiopulmonary bypass in the rat. Anesthesiology. Feb 2007;106(2):295-301. PMID: 17264724
  9. Hoffman M, Colina CM, McDonald AG, Arepally GM, Pedersen L, Monroe DM. Tissue factor around dermal vessels has bound factor VII in the absence of injury. J. Thromb. Haemost. Jul 2007;5(7):1403-1408. PMID: 17425666
  10. Krakow EF, Goudar R, Petzold E, Suvarna S, Last M, Welsby IJ, Ortel TL, Arepally GM. Influence of sample collection and storage on the detection of platelet factor 4-heparin antibodies. Am. J. Clin. Pathol. Jul 2007;128(1):150-155. PMID: 17580283
  11. Whitlatch NL, Perry SL, Ortel TL. Anti-heparin/platelet factor 4 antibody optical density values and the confirmatory procedure in the diagnosis of heparin-induced thrombocytopenia. Thromb. Haemost. Oct 2008;100(4):678-684. PMID: 18841292, PMCID: PMC2575642
  12. Ortel TL. Heparin-induced thrombocytopenia: when a low platelet count is a mandate for anticoagulation. Hematology Am Soc Hematol Educ Program. Jan. 1 2009:225-232. PMID: 20008202
  13. Perry SL, Whitlatch NL, Ortel TL. Heparin-dependent platelet factor 4 antibodies and the impact of renal function on clinical outcomes: a retrospective study in hospitalized patients. J. Thromb. Thrombolysis. Aug 2009;28(2):146-150. PMID: 18839279, PMCID: PMC2713799
  14. Kuderer NM, Ortel TL, Francis CW. Impact of venous thromboembolism and anticoagulation on cancer and cancer survival. J. Clin. Oncol. Oct 10 2009;27(29):4902-4911. PMID: 19738120, PMCID: PMC2799059
  15. Arepally GM, Ortel TL. Heparin-induced thrombocytopenia. Annu. Rev. Med. 2010;61:77-90. PMID: 20059332

Book Chapters

  1. Percy A. Rett syndrome: clinical and molecular update. Current Opinion in Pediatrics. Vol 162004:670-677.
  2. Percy A. Rett syndrome. In: Maria B, ed. Current Management in Child Neurology. 3rd ed. Hamilton, Ontario: BC Decker; 2005.
  3. Percy A. Rett syndrome: clinical update and future prospects. In: Rubin IL, Crocker AC, eds. Medical Care for Children and Adults with Developmental Disabilities. 2nd ed. Baltimore: Paul H. Brookes Publishing 2006:171-178.
  4. Percy A. Rett syndrome. In: McMillan J, Feigin RD, DeAngelis C, Jones MD, eds. Oski's Pediatrics: Principles & Practice. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2006:2361-2363.
  5. Tarquinio D, Percy A. Rett disorder. In: Hollander E, Loklevzon A, Coyle JT, eds. APPI Textbook of Autism Spectrum Disorder2008.
  6. Neul J. Rett syndrome and MECP2-related disorders. Autism Spectrum Disorders: Oxford University Press; 2009.
  7. Percy A, Lane J. Rett syndrome. In: Maria B, ed. Current Management in Child Neurology. Vol 375-382. Hamilton, Ontario: BC Decker; 2009.
  8. Calfa G, Pozzo-Miller L, Percy A. Rett Syndrome: On Clinical and Genetic Features and Experimental Models Based on MECP2 Dysfunction. In: Powell C, Monteggia L, eds. The Autisms: Molecules to Model Systems. NY: Oxford University Press; 2013:57-90.
  9. Chapleau C, Lane J, Pozz-Miller L, Percy A. Rett Syndrome: A Model of Genetic Neurodevelopmental Disorders. In: Puiu M, ed. Genetic Disorders: InTech; 2013.

Abstracts Presented at Conferences

  1. Van den Veyver I, Amir R, Fang P, Yu Z, Glaze D, Percy A, Zoghbi H, Roa B. Mutations in the newly discovered coding exon 1 of MECP2 are a rare cause of classic Rett syndrome. Paper presented at: ASHG 54th Annual Meeting; October, 2004; Toronto.
  2. Neul J, Glaze D, Percy A, Lane J, Barrish J. Specific MECP2 mutations confer different severity in Rett syndrome. Paper presented at: Child Neurology Society 34th Annual Meeting2005; Los Angeles, CA.
  3. Fang P, Ward P, Glaze D, Van den Veyver I, Percy A, Zoghbi H, Roa B. Comprehensive clinical testing of the MECP2 gene for Rett syndrome. Paper presented at: American College of Medical Genetics Annual Meeting; March, 2005.
  4. Roa B, Ward P, Glaze D, Neul J, Van den Veyver I, Percy A, Zoghbi H, Fang P. Clinical molecular testing for rett syndrome: comprehensive analysis for point mutations and large rearrangements in the MECP2 gene. Paper presented at: Rett Syndrome Research Foundation Annual Meeting; Jun 27-29, 2005; Chicago, IL.
  5. Fang P, Ward P, Berry S, Irons M, Chong B, Van den Veyver I, Neul J, Percy A, Glaze D, Zoghbi H, Roa B. MECP2 gene rearrangements in female and male patients with features of Rett syndrome. Paper presented at: American Society of Human Genetics 55th Annual Meeting; October, 2005; Salt Lake City, UT.
  6. Percy A. Summary of clinical trials experience in Rett syndrome. Paper presented at: Clinical Trials In Rett Syndrome International Workshop; May 29-31, 2006; San Francisco, CA.
  7. Percy A. Gene therapy in Rett syndrome. Paper presented at: Clinical Trials In Rett Syndrome International Workshop; May 29-31, 2006; San Francisco, CA.
  8. Percy A. Rett syndrome: current status and new directions. Paper presented at: 10th Annual International Child Neurology Congress; June, 2006; Montreal, Canada.
  9. Percy A. Syndromic forms of mental retardation, neurogenetics for the practitioner. Paper presented at: R. O. Brady Lecture in Neurogenetics; Nov 10, 2006; New York, NY.
  10. Percy A. Rett syndrome and MECP2: understanding the genotype-phenotype correlations. Paper presented at: National Society of Genetic Counselors; Nov 13, 2006; Nashville, TN.
  11. Tarquinio D, Lane J, Percya A. The natural history of Rett syndrome: phenotypic differences in classical rett syndrome are associated with specific MECP2 mutations. Paper presented at: Rare Disease Clinical Research Network Conference on Clinical Research for Rare Diseases; September, 2007; Bethesda, MD.
  12. Tarquinio D, Motil K, Glaze D, Skinner S, Neul J, Annese F, Barrish J, Geerts S, Lane J, Percy A. Growth charts for Rett syndrome: birth to 18 years of age. Paper presented at: Child Neurology Society meeting2008.
  13. Peters SU, Tavyev J, Zhang F, Zoghbi H. An emerging behavioral phenotype in female carriers with MECP2 duplications: implications for the broad autism phenotype. Paper presented at: The Keystone Symposia: Toward a Pathophysiology of Autism; February 24, 2008; Santa Fe, NM.
  14. Kirby R, Percy A, Lane J, Glaze D, Skinner S, MacLeod P, Barrish J, Annese F. Longevity in Rett syndrome: probing the North American database. Paper presented at: Child Neurology Society meeting; November, 2008.
  15. Tarquinio D, Motil K, Glaze D, Skinner S, Neul J, Annese F, Barrish J, Geerts S, Lane J, Percy A. Growth charts for Rett syndrome: birth to 18 years of age. Paper presented at: American Academy of Neurology annual meeting; April, 2009; Seattle, WA.
  16. Glaze D, Percy A, Skinner S, Motil K, Neul J, Barrish J, Lane J, Geerts S, Annese F, Graham J, McNair L. Natural history of Rett syndrome: epilepsy. Paper presented at: Pediatric Academic Society meeting; May 2-9, 2009.
  17. Percy A, Lee H-S, Glaze D, Skinner S, Motil K, Neul J, Barrish J, Lane J, Geerts S, Annese F, Graham J, McNair L. Profiling scoliosis in Rett syndrome. Paper presented at: Pediatric Academic Society meeting; May 2-9, 2009.

Journal Articles

  1. Neul JL, Maricich SM, Islam M, Barrish J, Smith EO, Bottiglieri T, Hyland K, Humphreys P, Percy A, Glaze D. Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome. Neurology. Jun 28 2005;64(12):2151-2152. PMID: 15985595
  2. Percy AK, Lane JB. Rett syndrome: model of neurodevelopmental disorders. J. Child Neurol. Sep 2005;20(9):718-721. PMID: 16225824
  3. Tofil NM, Buckmaster MA, Winkler MK, Callans BH, Islam MP, Percy AK. Deep sedation with propofol in patients with Rett syndrome. J. Child Neurol. Mar 2006;21(3):210-213. PMID: 16901422
  4. Motil KJ, Schultz RJ, Abrams S, Ellis KJ, Glaze DG. Fractional calcium absorption is increased in girls with Rett syndrome. J. Pediatr. Gastroenterol. Nutr. Apr 2006;42(4):419-426. PMID: 16641581
  5. Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LSt, Friez M,
  6. Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, Ravine D,
  7. Percy AK. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. Jul 11 2006;67(1):164-166. PMID: 16832102
  8. del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet. Med. Dec 2006;8(12):784-792. PMID: 17172942
  9. Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P. Rett syndrome: North American database. J. Child Neurol. Dec 2007;22(12):1338-1341. PMID: 18174548
  10. Percy A. Rett Syndrome: From Recognition to Diagnosis to Intervention. Expert Review of Endocrinology & Metabolism 2008;3(3):327-336.
  11. Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology. Mar 11 2008;70(11):868-875. PMID: 18332345
  12. Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. Apr 15 2008;70(16):1313-1321. PMID: 18337588, PMCID: PMC2677974
  13. Percy AK. Rett syndrome: recent research progress. J. Child Neurol. May 2008;23(5):543-549. PMID: 18056689
  14. Motil KJ, Ellis KJ, Barrish JO, Caeg E, Glaze DG. Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome. Pediatr. Res. Oct 2008;64(4):435-439. PMID: 18535484, PMCID: PMC2663405
  15. Louise S, Fyfe S, Bebbington A, Bahi-Buisson N, Anderson A, Pineda M, Percy A, Zeev BB, Wu XR, Bao X, Leod PM, Armstrong J, Leonard H. InterRett, a model for international data collection in a rare genetic disorder. Research in Autism Spectrum Disorders. 2009;3(3):639659. PMID: 24348750, PMCID: PMC3858578
  16. Rudaz CG, Matagne V, Ronnekleiv O, Bosch M, Percy A, Ojeda S. FXYD1, a Modulator of Na+,KATPase Activity, Facilitates Female Sexual Development by Maintaining GonadotrophinReleasing Hormone Neuronal Excitability. J. Neuroendocrinol. February 2009;21(2):102-122. PMID: 19187398, PMCID: PMC2934895
  17. Glaze DG, Percy AK, Motil KJ, Lane JB, Isaacs JS, Schultz RJ, Barrish JO, Neul JL, O'Brien WE, Smith EO. A study of the treatment of Rett syndrome with folate and betaine. J. Child Neurol. May 2009;24(5):551-556. PMID: 19225139, PMCID: PMC2760386
  18. Larimore JL, Chapleau CA, Kudo S, Theibert A, Percy AK, Pozzo-Miller L. Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations. Neurobiol. Dis. May 2009;34(2):199-211. PMID: 19217433, PMCID: PMC2726722
  19. Motil KJ, Morrissey M, Caeg E, Barrish JO, Glaze DG. Gastrostomy placement improves height and weight gain in girls with Rett syndrome. J. Pediatr. Gastroenterol. Nutr. Aug 2009;49(2):237-242. PMID: 19525868
  20. Chapleau CA, Calfa GD, Lane MC, Albertson AJ, Larimore JL, Kudo S, Armstrong DL, Percy AK, Pozzo-Miller L. Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations. Neurobiol. Dis. Aug 2009;35(2):219-233. PMID: 19442733, PMCID: PMC2722110
  21. Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann. Neurol. Dec 2009;66(6):771-782. PMID: 20035514, PMCID: PMC2801873
  22. Samaco RC, Mandel-Brehm C, Chao HT, et al. Loss of MeCP2 in aminergic neurons causes cellautonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc. Natl. Acad. Sci. U. S. A. Dec 22 2009;106(51):21966-21971. PMID: 20007372, PMCID: PMC2799790
  23. Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, Macleod P, Percy AK. Longevity in Rett syndrome: analysis of the North American Database. J. Pediatr. Jan 2010;156(1):135-138 e131. PMID: 19772971, PMCID: PMC2794941
  24. Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, McNair L, Lee HS. Epilepsy and the natural history of Rett syndrome. Neurology. Mar 16 2010;74(11):909-912. PMID: 20231667, PMCID: PMC2836870
  25. Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, McNair L, Motil KJ, Barrish JO, Glaze DG. Profiling scoliosis in Rett syndrome. Pediatr. Res. Apr 2010;67(4):435439. PMID: 20032810, PMCID: PMC2852102
  26. Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J, Barnes K. Rett syndrome diagnostic criteria: lessons from the Natural History Study. Ann. Neurol. Dec 2010;68(6):951-955. PMID: 21104896, PMCID: PMC3021984
  27. Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK. Rett syndrome: revised diagnostic criteria and nomenclature. Ann. Neurol. Dec 2010;68(6):944-950. PMID: 21154482, PMCID: PMC3058521
  28. Percy AK. Rett syndrome: exploring the autism link. Arch. Neurol. Aug 2011;68(8):985-989. PMID: 1825235, PMCID: PMC3674963
  29. Lane JB, Lee HS, Smith LW, et al. Clinical severity and quality of life in children and adolescents with Rett syndrome. Neurology. Nov 15 2011;77(20):1812-1818. PMID: 22013176, PMCID: PMC3233210
  30. Motil KJ, Barrish JO, Lane J, Geerts SP, Annese F, McNair L, Percy AK, Skinner SA, Neul JL, Glaze DG. Vitamin d deficiency is prevalent in girls and women with rett syndrome. J. Pediatr. Gastroenterol. Nutr. Nov 2011;53(5):569-574. PMID: 21637127, PMCID: PMC3638258
  31. Khwaja OS, Sahin M. Translational research: Rett syndrome and tuberous sclerosis complex. Curr. Opin. Pediatr. Dec 2011;23(6):633-639. PMID: 21970827, PMCID: PMC3212611
  32. McCauley MD, Wang T, Mike E, Herrera J, Beavers DL, Huang TW, Ward CS, Skinner S, Percy AK, Glaze DG, Wehrens XH, Neul JL. Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome. Sci Transl Med. Dec 14 2011;3(113):113ra125. PMID: 22174313, PMCID: PMC3633081
  33. Chapleau CA, Boggio EM, Calfa G, Percy AK, Giustetto M, Pozzo-Miller L. Hippocampal CA1 pyramidal neurons of Mecp2 mutant mice show a dendritic spine phenotype only in the presymptomatic stage. Neural Plast. 2012;2012:976164. PMID: 22919518, PMCID: PMC3418521
  34. Motil KJ, Caeg E, Barrish JO, Geerts S, Lane JB, Percy AK, Annese F, McNair L, Skinner SA, Lee HS, Neul JL, Glaze DG. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with rett syndrome. J. Pediatr. Gastroenterol. Nutr. Sep 2012;55(3):292-298. PMID: 22331013, PMCID: PMC3393805
  35. Bebbington A, Downs J, Percy A, Pineda M, Zeev BB, Bahi-Buisson N, Leonard H. The phenotype associated with a large deletion on MECP2. Eur. J. Hum. Genet. Sep 2012;20(9):921-927. PMID: 22473088, PMCID: PMC3421119
  36. Tarquinio DC, Motil KJ, Hou W, Lee HS, Glaze DG, Skinner SA, Neul JL, Annese F, McNair L, Barrish JO, Geerts SP, Lane JB, Percy AK. Growth failure and outcome in Rett syndrome: specific growth references. Neurology. Oct 16 2012;79(16):1653-1661. PMID: 23035069, PMCID: PMC3468773
  37. Chapleau CA, Lane J, Larimore J, Li W, Pozzo-Miller L, Percy AK. Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment Options. Future neurology. Jan 1 2013;8(1). PMID: 24348096, PMCID: PMC3859379
  38. Chapleau CA, Lane J, Kirwin SM, et al. Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. Am. J. Med. Genet. A. Jul 2013;161A(7):1638-1646. PMID: 23696494, PMCID: PMC3689857
  39. Leonard H, Ravikumara M, Baikie G, et al. Assessment and management of nutrition and growth in Rett syndrome. J. Pediatr. Gastroenterol. Nutr. Oct 2013;57(4):451-460. PMID: 24084372, PMCID: PMC3906202
  40. Percy AK. Neuroscience. Path to treat Rett syndrome. Science. Oct 18 2013;342(6156):318-320. PMID: 24136956
  41. Chapleau CA, Lane J, Pozzo-Miller L, Percy AK. Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives. Current clinical pharmacology. Nov 2013;8(4):358-369. PMID: 24050745, PMCID: PMC3789853
  42. Neul JL, Lane JB, Lee HS, et al. Developmental delay in Rett syndrome: data from the natural history study. J. Neurodev. Disord. 2014;6(1):20. PMID: 25071871, PMCID: PMC4112822
  43. Percy A. The American history of Rett syndrome. Pediatr. Neurol. Jan 2014;50(1):1-3. PMID: 24200039, PMCID: PMC3874243
  44. Cuddapah VA, Pillai RB, Shekar KV, et al. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J. Med. Genet. Mar 2014;51(3):152-158. PMID: 24399845, PMCID: PMC4403764
  45. Kalman LV, Tarleton JC, Percy AK, et al. Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing. J. Mol. Diagn. Mar 2014;16(2):273-279. PMID: 24508304, PMCID: PMC3937532
  46. Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. Brief report: MECP2 mutations in people without Rett syndrome. J. Autism Dev. Disord. Mar 2014;44(3):703-711. PMID: 23921973, PMCID: PMC3880396
  47. Pinto AL, Fernandez IS, Peters JM, et al. Localization of sleep spindles, k-complexes, and vertex waves with subdural electrodes in children. J. Clin. Neurophysiol. Aug 2014;31(4):367-374. PMID: 25083850
  48. Killian JT, Lane JB, Cutter GR, et al. Pubertal development in Rett syndrome deviates from typical females. Pediatr. Neurol. Dec 2014;51(6):769-775. PMID: 25283752, PMCID: PMC4254166
  49. Peters SU, Gordon RL, Key AP. Induced gamma oscillations differentiate familiar and novel voices in children with MECP2 duplication and Rett syndromes. J. Child Neurol. Feb 2015;30(2):145-152. PMID: 24776956, PMCID: PMC4406405
  50. Tarquinio DC, Hou W, Neul JL, et al. Age of diagnosis in rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis. Pediatr. Neurol. Jun 2015;52(6):585-591 e582. PMID: 25801175, PMCID: PMC4442062
  51. Tarquinio DC, Hou W, Neul JL, et al. The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders. Pediatr. Neurol. Nov 2015;53(5):402-11. PMID: 26278631, PMCID: PMC4609589
  52. Pozzo-Miller L, Pati S, Percy AK. Rett Syndrome: Reaching for Clinical Trials. Neurotherapeutics: the journal of the American Society for Experimental NeuroTherapeutics. Jul 2015;12(3):631640. PMID: 25861995, PMCID: PMC4489949
  53. Olson HE, Tambunan D, LaCoursiere C, et al. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. Am. J. Med. Genet. A. Sep 2015;167A(9):2017-2025. PMID: 25914188, PMCID: PMC5722031
  54. Neul JL, Glaze DG, Percy AK, et al. Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale. J. Child Neurol. Nov 2015;30(13):1743-1748. PMID: 25895911, PMCID: PMC4610825
  55. Merkel PA, Manion M, Gopal-Srivastava R, et al. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J. Rare Dis. 2016;11(1):66. PMID: 27194034, PMCID: PMC4870759
  56. Percy AK. Progress in Rett Syndrome: from discovery to clinical trials. Wien Med Wochenschr. 2016;166(11-12):325-332. PMID: 27491553, PMCID: PMC5005392
  57. Sheikh TI, Ausio J, Faghfoury H, et al. From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. Scientific reports. 2016;6:38590. PMID: 27929079, PMCID: PMC5144150
  58. Ward CS, Huang TW, Herrera JA, et al. Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome. PLoS ONE. 2016;11(11):e0165550. PMID: 27828991, PMCID: PMC5102405
  59. Killian JT, Jr., Lane JB, Lee HS, et al. Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors. Pediatr. Neurol. Jan 11 2016. PMID: 26995066, PMCID: PMC4899118
  60. Sajan SA, Jhangiani SN, Muzny DM, et al. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet. Med. May 12 2016. PMID: 27171548, PMCID: PMC5107176
  61. Dy ME, Waugh JL, Sharma N, et al. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol. 2017;75:91-95. PMID: 28838622, PMCID: PMC5624791
  62. Killian JT, Lane JB, Lee HS, et al. Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. Pediatr Neurol. 2017;70:20-25. PMID: 28347601, PMCID: PMC5461984
  63. Lane JB, Salter AR, Jones NE, et al. Assessment of Caregiver Inventory for Rett Syndrome. J Autism Dev Disord. 2017;47(4):1102-1112. PMID: 28132121, PMCID: PMC5357458
  64. Tarquinio DC, Hou W, Berg A, et al. Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain. 2017;140(Pt 2):306-318. PMID: 28007990, PMCID: PMC5278305
  65. Gold JA, Mahmoud R, Cassidy SB, Kimonis V. Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. Am J Med Genet A. 2018;176(5):1161-1165. PMID: 29681103, PMCID: PMC5918292
  66. Mahmoud R, Singh P, Weiss L, et al. Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes. Am J Med Genet A. 2018. PMID: 30556641
  67. Sadhwani A, Sanjana NE, Willen JM, et al. Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform. Am J Med Genet A. 2018. PMID: 29737008
  68. Tan WH, Bird LM, Sadhwani A, et al. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018;176(5):1099-1107. PMID: 28944563, PMCID: PMC5867193
  69. Tarquinio DC, Hou W, Neul JL, et al. The course of awake breathing disturbances across the lifespan in Rett syndrome. Brain Dev. 2018. PMID: 29657083
  70. Buchanan CB, Stallworth JL, Scott AE, et al. Behavioral profiles in Rett syndrome: Data from the natural history study. Brain Dev. 2019;41(2):123-134. PMID: 30217666, PMCID: PMC6392009
  71. Khan N, Cabo R, Tan WH, Tayag R, Bird LM. Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study. Molecular genetics & genomic medicine. 2019:e734. PMID: 31090212
  72. Motil KJ, Lane JB, Barrish JO, et al. Biliary Tract Disease in Girls and Young Women with Rett Syndrome. J Pediatr Gastroenterol Nutr. 2019. PMID: 30664568
  73. Neul JL, Benke TA, Marsh ED, et al. The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. Am J Med Genet B Neuropsychiatr Genet. 2019;180(1):55-67. PMID: 30536762
  74. Sadhwani A, Willen JM, LaVallee N, et al. Maladaptive behaviors in individuals with Angelman syndrome. Am J Med Genet A. 2019;179(6):983-992. PMID: 30942555

Journal Articles

  1. Santarpia L, Myers JN, Sherman SI, Trimarchi F, Clayman GL, El-Naggar AK. Genetic alterations in the RAS/RAF/mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt signaling pathways in the follicular variant of papillary thyroid carcinoma. Cancer. Jun 15 2010;116(12):2974-2983. PMID: 20564403
  2. Mitani Y, Li J, Rao PH, Zhao YJ, Bell D, Lippman SM, Weber RS, Caulin C, El-Naggar AK. Comprehensive analysis of the MYB-NFIB gene fusion in salivary adenoid cystic carcinoma: Incidence, variability, and clinicopathologic significance. Clin. Cancer Res. Oct 1 2010;16(19):4722-4731. PMID: 20702610
  3. Su X, Chakravarti D, Cho MS, Liu L, Gi YJ, Lin YL, Leung ML, El-Naggar A, Creighton CJ, Suraokar MB, Wistuba I, Flores ER. TAp63 suppresses metastasis through coordinate regulation of Dicer and miRNAs. Nature. Oct 21 2010;467(7318):986-990. PMID: 20962848, PMCID: PMC3055799
  4. Bell D, Roberts D, Kies M, Rao P, Weber RS, El-Naggar AK. Cell type-dependent biomarker expression in adenoid cystic carcinoma: Biologic and therapeutic implications. Cancer. Dec 15 2010;116(24):5749-5756. PMID: 20824717, PMCID: PMC2998592
  5. Wang Y, Suh YA, Fuller MY, Jackson JG, Xiong S, Terzian T, Quintas-Cardama A, Bankson JA, El Naggar AK, Lozano G. Restoring expression of wild-type p53 suppresses tumor growth but does not cause tumor regression in mice with a p53 missense mutation. J. Clin. Invest. Mar 1 2011;121(3):893-904. PMID: 21285512, PMCID: PMC3049366
  6. Mitani Y, Li J, Weber RS, Lippman SL, Flores ER, Caulin C, El-Naggar AK. Expression and regulation of the DeltaN and TAp63 isoforms in salivary gland tumorigenesis clinical and experimental findings. Am. J. Pathol. Jul 2011;179(1):391-399. PMID: 21703418, PMCID: PMC3123859
  7. Bell D, Roberts D, Karpowicz M, Hanna EY, Weber RS, El-Naggar AK. Clinical significance of Myb protein and downstream target genes in salivary adenoid cystic carcinoma. Cancer Biol. Ther. Oct 1 2011;12(7):569-573.PMID: 21785271, PMCID: PMC3218383
  8. Mitani Y, Rao PH, Futreal PA, Roberts DB, Stephens PJ, Zhao YJ, Zhang L, Mitani M, Weber RS, Lippman SM, Caulin C, El-Naggar AK. Novel chromosomal rearrangements and break points at the t(6;9) in salivary adenoid cystic carcinoma: association with MYB-NFIB chimeric fusion, MYB expression, and clinical outcome. Clin. Cancer Res. Nov 15 2011;17(22):7003-7014. PMID: 21976542, PMCID: PMC3225955
  9. Jin L, Xu L, Song X, Wei Q, Sturgis EM, Li G. Genetic variation in MDM2 and p14ARF and susceptibility to salivary gland carcinoma. PLoS ONE. 2012;7(11):e49361. PMID: 23145162, PMCID: PMC3492289
  10. Xu L, Doan PC, Wei Q, Liu Y, Li G, Sturgis EM. Association of BRCA1 functional single nucleotide polymorphisms with risk of differentiated thyroid carcinoma. Thyroid. Jan 2012;22(1):35-43. PMID: 22136207, PMCID: PMC3263304
  11. Santarpia L, Lippman SM, El-Naggar AK. Targeting the MAPK-RAS-RAF signaling pathway in cancer therapy. Expert Opin. Ther. Targets. Jan 2012;16(1):103-119. PMID: 22239440, PMCID: PMC3457779
  12. Sen B, Peng S, Woods DM, et al. STAT5A-mediated SOCS2 expression regulates Jak2 and STAT3 activity following c-Src inhibition in head and neck squamous carcinoma. Clin. Cancer Res. Jan 1 2012;18(1):127-139. PMID: 22090359, PMCID: PMC3251692
  13. Bell D, Bell A, Roberts D, Weber RS, El-Naggar AK. Developmental transcription factor EN1--a novel biomarker in human salivary gland adenoid cystic carcinoma. Cancer. Mar 1 2012;118(5):1288-1292. PMID: 21800291, PMCID: PMC3208084
  14. Lewis CM, Glisson BS, Feng L, et al. A phase II study of gefitinib for aggressive cutaneous squamous cell carcinoma of the head and neck. Clin. Cancer Res. Mar 1 2012;18(5):1435-1446. PMID: 22261807
  15. Thariat J, Ang KK, Allen PK, et al. Prediction of neck dissection requirement after definitive radiotherapy for head-and-neck squamous cell carcinoma. Int. J. Radiat. Oncol. Biol. Phys. Mar 1 2012;82(3):e367-374. PMID: 22284033
  16. Xu L, Li G, Wei Q, El-Naggar AK, Sturgis EM. Family history of cancer and risk of sporadic differentiated thyroid carcinoma. Cancer. Mar 1 2012;118(5):1228-1235. PMID: 21800288, PMCID: PMC3208119
  17. El-Naggar AK, Westra WH. p16 expression as a surrogate marker for HPV-related oropharyngeal carcinoma: a guide for interpretative relevance and consistency. Head Neck. Apr 2012;34(4):459-461. PMID: 22180304
  18. Jackson JG, Pant V, Li Q, Chang LL, Quintas-Cardama A, Garza D, Tavana O, Yang P, Manshouri T, Li Y, El-Naggar AK, Lozano G. p53-mediated senescence impairs the apoptotic response to chemotherapy and clinical outcome in breast cancer. Cancer Cell. Jun 12 2012;21(6):793-806. PMID: 22698404, PMCID: PMC3376352
  19. Adelstein DJ, Koyfman SA, El-Naggar AK, Hanna EY. Biology and management of salivary gland cancers. Semin. Radiat. Oncol. Jul 2012;22(3):245-253. PMID:22687949
  20. Li N, Xu L, Zhao H, El-Naggar AK, Sturgis EM. A comparison of the demographics, clinical features, and survival of patients with adenoid cystic carcinoma of major and minor salivary glands versus less common sites within the Surveillance, Epidemiology, and End Results registry. Cancer. Aug 15 2012;118(16):3945-3953. PMID: 22179977, PMCID: PMC3412946
  21. McHugh CH, Roberts DB, El-Naggar AK, et al. Prognostic factors in mucoepidermoid carcinoma of the salivary glands. Cancer. Aug 15 2012;118(16):3928-3936. PMID: 22180391
  22. Kies MS, Boatright DH, Li G, et al. Phase II trial of induction chemotherapy followed by surgery for squamous cell carcinoma of the oral tongue in young adults. Head Neck. Sep 2012;34(9):1255-1262. PMID: 22009800
  23. Xu L, Doan PC, Wei Q, Li G, Sturgis EM. Functional single-nucleotide polymorphisms in the BRCA1 gene and risk of salivary gland carcinoma. Oral Oncol. Sep 2012;48(9):842-847. PMID: 22503699, PMCID: PMC3408797
  24. Xu L, Mugartegui L, Li G, Sarlis NJ, Wei Q, Zafereo ME, Sturgis EM. Functional polymorphisms in the insulin-like binding protein-3 gene may modulate susceptibility to differentiated thyroid carcinoma in Caucasian Americans. Mol. Carcinog. Oct 2012;51 Suppl 1:E158-167. PMID: 22415807, PMCID: PMC3473095
  25. Mitani Y, Roberts DB, Fatani H, et al. MicroRNA profiling of salivary adenoid cystic carcinoma: association of miR-17-92 upregulation with poor outcome. PLoS ONE. 2013;8(6):e66778. PMID: 3825564, PMCID: PMC3692530
  26. Bell D, El-Naggar AK. Molecular heterogeneity in mucoepidermoid carcinoma: conceptual and practical implications. Head and neck pathology. Mar 2013;7(1):23-27. PMID: 23459841, PMCID: PMC3597160
  27. Sano D, Gule MK, Rosenthal DI, et al. Early postoperative epidermal growth factor receptor inhibition: safety and effectiveness in inhibiting microscopic residual of oral squamous cell carcinoma in vivo. Head Neck. Mar 2013;35(3):321-328. PMID: 22367702, PMCID: PMC3836367
  28. Guan X, Sturgis EM, Song X, et al. Pre-microRNA variants predict HPV16-positive tumors and survival in patients with squamous cell carcinoma of the oropharynx. Cancer Lett. Apr 28 2013;330(2):233-240. PMID: 23219900, PMCID: PMC3563870
  29. Bell D, J NM, Rao PH, El-Naggar AK. t(3;8) as the sole chromosomal abnormality in a myoepithelial carcinoma ex pleomorphic adenoma: a putative progression event. Head Neck. Jun 2013;35(6):E181-183. PMID: 22287457
  30. Ow TJ, Hanna EY, Roberts DB, et al. Optimization of long-term outcomes for patients with esthesioneuroblastoma. Head Neck. Jun 18 2013. PMID: 23780581
  31. Zhang L, Mitani Y, Caulin C, et al. Detailed genome-wide SNP analysis of major salivary carcinomas localizes subtype-specific chromosome sites and oncogenes of potential clinical significance. Am. J. Pathol. Jun 2013;182(6):2048-2057. PMID: 23583282, PMCID: PMC3668022
  32. Pickering CR, Zhang J, Yoo SY, et al. Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers. Cancer discovery. Jul 2013;3(7):770-781. PMID: 23619168, PMCID: PMC3858325
  33. Stephens PJ, Davies HR, Mitani Y, et al. Whole exome sequencing of adenoid cystic carcinoma. J. Clin. Invest. Jul 1 2013;123(7):2965-2968. PMID: 23778141
  34. Ivanov SV, Panaccione A, Nonaka D, et al. Diagnostic SOX10 gene signatures in salivary adenoid cystic and breast basal-like carcinomas. Br. J. Cancer. Jul 23 2013;109(2):444-451. PMID: 23799842, PMCID: PMC3721393
  35. Gillenwater AM, Frank SJ, Fatani H, El-Naggar AK. Primary intestinal-like adenocarcinoma of major salivary glands: 2 instances of previously undocumented phenotype. Head Neck. Aug 2013;35(8):E234-236. PMID: 23108630
  36. Liu X, Bishop J, Shan Y, et al. Highly prevalent TERT promoter mutations in aggressive thyroid cancers. Endocr. Relat. Cancer. Aug 2013;20(4):603-610. PMID: 23766237
  37. Ivanov SV, Panaccione A, Brown B, et al. TrkC signaling is activated in adenoid cystic carcinoma and requires NT-3 to stimulate invasive behavior. Oncogene. Aug 8 2013;32(32):3698-3710. PMID: 23027130
  38. Bell D, Holsinger FC, Ordonez N, El-Naggar AK. Intestinal-type adenocarcinoma of the larynx: Report of a rare aggressive phenotype and discussion of histogenesis. Head Neck. Aug 28 2013. PMID: 24038722
  39. Sandulache VC, Ow TJ, Daram SP, et al. Residual nodal disease in patients with advanced-stage oropharyngeal squamous cell carcinoma treated with definitive radiation therapy and posttreatment neck dissection: Association with locoregional recurrence, distant metastasis, and decreased survival. Head Neck. Oct 2013;35(10):1454-1460. PMID: 23018868
  40. Gelbard A, Hale KS, Takahashi Y, et al. Molecular profiling of sinonasal undifferentiated carcinoma. Head Neck. Jan 2014;36(1):15-21. PMID: 23633104
  41. Bell D, Hanna EY, Miele L, Roberts D, Weber RS, El-Naggar AK. Expression and significance of notch signaling pathway in salivary adenoid cystic carcinoma. Ann. Diagn. Pathol. Feb 2014;18(1):10-13. PMID: 24238845
  42. Reitzel LR, Nguyen N, Li N, Xu L, Regan SD, Sturgis EM. Trends in thyroid cancer incidence in Texas from 1995 to 2008 by socioeconomic status and race/ethnicity. Thyroid. Mar 2014;24(3):556-567. PMID: 24063701, PMCID: PMC3949437
  43. Mitani Y, Rao PH, Maity SN, et al. Alterations associated with androgen receptor gene activation in salivary duct carcinoma of both sexes: potential therapeutic ramifications. Clin. Cancer Res. Dec 15 2014;20(24):6570-6581. PMID: 25316813, PMCID: PMC4268116
  44. Gao R, Cao C, Zhang M, et al. A unifying gene signature for adenoid cystic cancer identifies parallel MYB-dependent and MYB-independent therapeutic targets. Oncotarget. Dec 30 2014;5(24):12528-12542. PMID: 25587024, PMCID: PMC4350357
  45. Wang Z, Ling S, Rettig E, et al. Epigenetic screening of salivary gland mucoepidermoid carcinoma identifies hypomethylation of CLIC3 as a common alteration. Oral Oncol. 2015;51(12):1120-1125. PMID: 26490796, PMCID: PMC4663116
  46. Xu L, Tang H, El-Naggar AK, Wei P, Sturgis EM. Genetic variants in DNA double-strand break repair genes and risk of salivary gland carcinoma: a case-control study. PLoS ONE. 2015;10(6):e0128753. PMID: 26035306, PMCID: PMC4452711
  47. Xu L, Tang H, Chen DW, El-Naggar AK, Wei P, Sturgis EM. Genome-wide association study identifies common genetic variants associated with salivary gland carcinoma and its subtypes. Cancer. Jul 15 2015;121(14):2367-2374. PMID: 25823930; PMCID: PMC4564998

Book Chapters

  1. He M, Smith L, Vockley J. SC4MOL deficiency. In: Valle D, Beaudet A, Vogelstein B, et al., eds. Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill Global Education Holdings, LLC; 2014.

Journal Articles

  1. Merkens LS, Wassif C, Healy K, et al. Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health. Genet. Med. May 2009;11(5):359-364. PMID: 19452638, PMCID: PMC2884390
  2. DeBarber AE, Connor WE, Pappu AS, Merkens LS, Steiner RD. ESI-MS/MS quantification of 7alpha-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis. Clin. Chim. Acta. Jan 2010;411(1-2):43-48. PMID: 19808031
  3. McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. Am. J. Hum. Genet. Dec 10 2010;87(6):905-914. PMID: 21129721, PMCID: PMC2997364
  4. DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD. Smith-Lemli-Opitz syndrome. Expert Rev Mol Med. 2011;13:e24. PMID: 21777499, PMCID: PMC3366105
  5. He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J. Clin. Invest. Mar 1 2011;121(3):976-984. PMID: 21285510, PMCID: PMC3049385
  6. DeBarber AE, Sandlers Y, Pappu AS, Merkens LS, Duell PB, Lear SR, Erickson SK, Steiner RD. Profiling sterols in cerebrotendinous xanthomatosis: utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis. J. Chromatogr. B Analyt. Technol. Biomed. Life. Sci. May 15 2011;879(17-18):1384-1392. PMID: 21168372, PMCID: PMC3326078
  7. Steiner LA, Ehrenkranz RA, Peterec SM, Steiner RD, Reyes-Mugica M, Gallagher PG. Perinatal onset mevalonate kinase deficiency. Pediatr. Dev. Pathol. Jul-Aug 2011;14(4):301-306. PMID: 21425920
  8. Monson DM, DeBarber AE, Bock CJ, Anadiotis G, Merkens LS, Steiner RD, Stout AU. Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign. Arch. Ophthalmol. Aug 2011;129(8):1087-1088. PMID: 21825196, PMCID: PMC3366103
  9. Hager EJ, Piganelli JD, Tse HM, Gibson KM. Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS). J. Inherit. Metab. Dis. Jan 2012;35(1):159-168. PMID: 21607759, PMCID: PMC3654530
  10. Liu Y, Xia B, Gleason TJ, Castaneda U, He M, Berry GT, Fridovich-Keil JL. N- and O-linked glycosylation of total plasma glycoproteins in galactosemia. Mol. Genet. Metab. Aug 2012;106(4):442-454. PMID: 22743281, PMCID: PMC3426456
  11. Wolfe LA, Morava E, He M, Vockley J, Gibson KM. Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation. Am. J. Med. Genet. C Semin. Med. Genet. Nov 15 2012;160C(4):322-328. PMID: 23059969, PMCID: PMC3995744
  12. Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD. Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. Am. J. Med. Genet. C Semin. Med. Genet. Nov 15 2012;160C(4):285-294. PMID: 23042642, PMCID: PMC3890258
  13. Liu W, Xu L, Lamberson CR, Merkens LS, Steiner RD, Elias ER, Haas D, Porter NA. Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. J. Lipid Res. Jan 2013;54(1):244-253. PMID: 23072947, PMCID: PMC3520531
  14. Simon A, Drenth JP, Matern D, Goetzman ES, Hager EJ, Gibson KM. Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers. Mol. Genet. Metab. Mar 2013;108(3):166-171. PMID: 23375471, PMCID: PMC3654528
  15. Sampson M, Jüppner H. Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease. Curr Pediatr Rep. March 1 2013;1(1):52-59. PMID: 27642543, PMCID: PMC5022771
  16. Kanungo S, Soares N, He M, Steiner RD. Sterol metabolism disorders and neurodevelopmental update. Developmental disabilities research reviews. Jun 2013;17(3):197-210. PMID: 23798009
  17. DeBarber AE, Luo J, Star-Weinstock M, et al. A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. J. Lipid Res. Jan 2014;55(1):146-154. PMID: 24186955, PMCID: PMC3927472
  18. He M, Smith LD, Chang R, Li X, Vockley J. The role of sterol-C4-methyl oxidase in epidermal biology. Biochim. Biophys. Acta. Mar 2014;1841(3):331-335. PMID: 24144731, PMCID: PMC3943829
  19. DeBarber AE, Luo J, Giugliani R, et al. A useful multi-analyte blood test for cerebrotendinous xanthomatosis. Clin. Biochem. Jun 2014;47(9):860-863. PMID: 24769274, PMCID: PMC4175980
  20. Merkens MJ, Sinden NL, Brown CD, et al. Feeding impairments associated with plasma sterols in smith-lemli-opitz syndrome. J. Pediatr. Oct 2014;165(4):836-841 e831. PMID: 25039049, PMCID: PMC4177270
  21. Othman RA, Myrie SB, Mymin D, et al. Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. J. Pediatr. Jan 2015;166(1):125-131. PMID: 25444527, PMCID: PMC4274192
  22. Ajagbe BO, Othman RA, Myrie SB. Plant Sterols, Stanols, and Sitosterolemia. J. AOAC Int. MayJun 2015;98(3):716-723. PMID: 25941971; PMCID: PMC4514516
  23. Merkel PA, Manion M, Gopal-Srivastava R, et al. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J. Rare Dis. 2016;11(1):66. PMID: 27194034, PMCID: PMC4870759
  24. Freeman KA, Olufs E, Tudor M, Roullet JB, Steiner RD. A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. J. Dev. Behav. Pediatr. Jun 2016;37(5):424-430. PMID: 27244299, PMCID: PMC4890614
  25. Adang LA, Sherbini O, Ball L, et al. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab. 2017;122(1-2):18-32. PMID: 28863857
  26. Hidalgo ET, Orillac C, Hersh A, Harter DH, Rizzo WB, Weiner HL. Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjogren-Larsson Syndrome. J Child Neurol. 2017;32(1):100103. PMID: 28257279, PMCID: PMC5339737
  27. Othman RA, Myrie SB, Mymin D, Roullet JB, Steiner RD, Jones PJH. Effect of ezetimibe on low- and high-density lipoprotein subclasses in sitosterolemia. Atherosclerosis. 2017;260:27-33. PMID: 28340366, PMCID: PMC5419426
  28. Othman RA, Myrie SB, Mymin D, et al. Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe. J Pediatr. 2017. PMID: 28625503
  29. Bose M, Mahadevan M, Schules DR, et al. Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study. Molecular genetics and metabolism reports. 2019;19:100459. PMID: 30815361, PMCID: PMC6377409