Research

Research at the Clinic for Special Children has a singular focus: patient care.

Comprehensive clinical care and an on-site biochemical and molecular genetic testing allow the Clinic for Special Children to conduct patient-focused translational research. In the more than 20 years since its founding, CSC staff have published more than 20 peer-reviewed research papers, fueled by close internal collaboration between clinical and laboratory staff and effective cooperation with academic, scientific, and clinical partners.

CSC is dedicated to the idea that genomics can be integrated into local medical care to reduce childhood death, disability, and chronic illness. The ultimate goal of all research at CSC is to apply advanced molecular genetic techniques to the care of individual patients and thereby improve regional public health.

Students at CSC

Student Research

CSC offers a rolling application process for undergraduates, graduate students, and fellows who are interested in independent research. Students can choose either clinic- or laboratory-based projects, but should only apply after a careful consideration of their core interests, capabilities, and goals. The CSC has mentored a talented range of young investigators through a broad range of projects, including disease gene mapping, molecular diagnostics, clinical endocrinology, cardiovascular physiology, neuropsychology, and neuroimaging. We require at least a one-month commitment and encourage serious students to consider longer rotations. The CSC cannot accommodate students for passive “shadowing” experiences; rather, we seek committed, independent, hard-working biomedical investigators who want to learn by solving real problems in the laboratory and at the bedside.

Apply to be a student researcher at CSC →

The Avery Fellowship

Avery

Dr. Mary Ellen Avery (1927–2011) was a pioneering scientist and pediatrician. In 1957, on a research fellowship at Harvard, Dr. Avery discovered the major cause of respiratory distress syndrome (RDS), which paved the way for the creation of the modern neonatal intensive care unit and continues to save hundreds of thousands of lives. In addition, she was the first female physician-in-chief at Boston Children’s hospital, the first woman to chair a major department at Harvard Medical School, a recipient of the National Medal of Science and proponent of solutions to global health problems such as the polio vaccine. During her long and illustrious career, Dr. Avery mentored innumerable young men and women including the Clinic for Special Children’s co-founder, Dr. D. Holmes Morton.

In honor of the legacy of Dr. Mary Ellen Avery, the Avery fellowship was established in 2012. The fellowship includes up to one year at our unique practice, working to solve complex medical problems with a focus on clinical applications and regional public health. Avery Fellows hold a minimum of a bachelor’s degree with specific training and interest in one or more of the following areas: pediatrics, genetics, bioinformatics, newborn screening, and public health. We want Avery Fellows to think about the life and work of a physician-scientist in underserved communities before they become immersed in the culture of the modern medical system.

2012-2013 – Kiri E. Sunde
2013-2014 – Abigail R. Benkert

Apply for the Avery Fellowship →

Our Published Papers

  1. Morlet T, Rabinowitz MR, Looney LR, Riegner T, Greenwood LA, Sherman EA, Achilly N, Zhu A, Yoo E, O’Reilly RC, Jinks RN, Puffenberger EG, Heaps A,Morton H, Strauss KA. A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans. Laryngoscope. 2013 Aug 14. doi: 10.1002/lary.24361.
  2. Parker WE, Orlova KA, Parker, WH, Birnbaum JF, Krymskaya VP, Goncharov DA, Baybis M, Helfferich J, Okochi K, Strauss KA, Crino PB. Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder. Sci Transl Med. 2013 Apr 24;5(182):182ra53. doi: 10.1126/scitranslmed.3005271
  3. Muelly ER, Moore GJ, Bunce SC, Mack J, Bigler DC, Morton DH, Strauss KA. Biochemical correlates of neuropsychiatric illness in maple syrup urine disease. J Clin Invest. 2013 Apr 1;123(4):1809-20. doi: 10.1172/JCI67217. Epub 2013 Mar 8.
  4. Ferkol TW, Puffenberger EG, Lei H, Helms C, Strauss KA, Bowcock A, Carson JL, Hazucha M, Morton DH, Patel AC, Leigh MW, Knowles MR, Zariwala MA. Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities. J Pediatr. 2013 Mar 7. pii: S0022-3476(13)00136-4. doi: 10.1016/j.jpeds.2013.01.061.
  5. Strauss KA, DuBiner L, Simon M, Zargoza M, Sengupta PP, Li P, Narula N, Dreike S, Platt J, Procaccio V, Ortiz-González XR, Puffenberger EG, Kelley RI, Morton DH, Narula J, Wallace DC. Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup. Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3453-8. doi: 10.1073/pnas.1300690110. Epub 2013 Feb 11.
  6. Strauss KA, Puffenberger EG, Morton DH. One Community’s Effort to Control Genetic Disease. Am J Public Health. 2012 Jul;102(7):1300-6. Epub 2012 May 17. PubMed PMID: 22594747.
  7. Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936. Epub 2012 Jan 17. PubMed PMID: 22279524; PubMed Central PMCID: PMC3260153.
  8. Mazariegos GV, Morton DH, Sindhi R, Soltys K, Nayyar N, Bond G, Shellmer D, Shneider B, Vockley J, Strauss KA. Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience. J Pediatr. 2012 Jan;160(1):116-21.e1. Epub 2011 Aug 11. PubMed PMID: 21839471.
  9. Strauss KA, Brumbaugh J, Duffy A, Wardley B, Robinson D, Hendrickson C, Tortorelli S, Moser AB, Puffenberger EG, Rider NL, Morton DH. Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. Mol Genet Metab. 2011 Sep-Oct;104(1-2):93-106. Epub 2011 Jul 12. PubMed PMID: 21820344.
  10. Xin B, Jones S, Puffenberger EG, Hinze C, Bright A, Tan H, Zhou A, Wu G, Vargus-Adams J, Agamanolis D, Wang H. Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5372-7. Epub 2011 Mar 14. PubMed PMID: 21402907; PubMed Central PMCID: PMC3069167.
  11. Rider NL, Strauss KA, Brown K, Finkenstedt A, Puffenberger EG, Hendrickson CL, Robinson DL, Muenke N, Tselepis C, Saunders L, Zoller H, Morton DH. Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management. Am J Hematol. 2011 Oct;86(10):827-34. doi: 10.1002/ajh.22118. Epub 2011 Aug 3. PubMed PMID: 21815188.
  12. de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, Bonilla FA, Ochs HD, Gelfand EW, Pessach IM, Walter JE, King A, Giliani S, Pai SY, Notarangelo LD. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. J Allergy Clin Immunol. 2011 Jul;128(1):139-46. Epub 2011 May 13. PubMed PMID: 21570718.
  13. Lancaster E, Huijbers MG, Bar V, Boronat A, Wong A, Martinez-Hernandez E, Wilson C, Jacobs D, Lai M, Walker RW, Graus F, Bataller L, Illa I, Markx S, Strauss KA, Peles E, Scherer SS, Dalmau J. Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia. Ann Neurol. 2011 Feb;69(2):303-11. doi: 10.1002/ana.22297. PubMed PMID: 21387375; PubMed Central PMCID: PMC3059252.
  14. Mohney BG, Pulido JS, Lindor NM, Hogan MC, Consugar MB, Peters J, Pankratz VS, Nasr SH, Smith SJ, Gloor J, Kubly V, Spencer D, Nielson R, Puffenberger EG, Strauss KA, Morton DH, Eldahdah L, Harris PC. A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. Ophthalmology. 2011 Jun;118(6):1137-44. Epub 2011 Jan 13. PubMed PMID: 21236492; PubMed Central PMCID: PMC3223484.
  15. O’Connor MJ, Rider NL, Thomas Collins R, Hanna BD, Holmes Morton D, Strauss KA. Contemporary management of congenital malformations of the heart in infants with Ellis – van Creveld syndrome: a report of nine cases. Cardiol Young. 2011 Apr;21(2):145-52. Epub 2010 Nov 12. PubMed PMID: 21070693.
  16. Shellmer DA, DeVito Dabbs A, Dew MA, Noll RB, Feldman H, Strauss KA, Morton DH, Vockley J, Mazariegos GV. Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series. Pediatr Transplant. 2011 Feb;15(1):58-64. doi: 10.1111/j.1399-3046.2010.01411.x. Epub 2010 Oct 8. PubMed PMID: 20946191; PubMed Central PMCID: PMC3050647.
  17. [updated 2013 May 09]. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. Maple Syrup Urine Disease - GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/books/NBK1319/ PubMed PMID: 20301495.
  18. Rajadhyaksha AM, Elemento O, Puffenberger EG, Schierberl KC, Xiang JZ, Putorti ML, Berciano J, Poulin C, Brais B, Michaelides M, Weleber RG, Higgins JJ. Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am J Hum Genet. 2010 Nov 12;87(5):643-54. PubMed PMID: 21070897; PubMed Central PMCID: PMC2978959.
  19. Innes AM, Boycott KM, Puffenberger EG, Redl D, MacDonald IM, Chudley AE, Beaulieu C, Perrier R, Gillan T, Wade A, Parboosingh JS. A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders. Clin Genet. 2010 Nov;78(5):424-31. doi: 10.1111/j.1399-0004.2010.01481.x. PubMed PMID: 20618352.
  20. Boycott KM, Beaulieu C, Puffenberger EG, McLeod DR, Parboosingh JS, Innes AM. A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. Am J Med Genet A. 2010 Jun;152A(6):1349-56. PubMed PMID: 20503307.
  21. Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):258-63. Epub 2009 Dec 14. PubMed PMID: 20018682; PubMed Central PMCID: PMC2806776.
  22. Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG. Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet. 2010 Mar 12;86(3):447-53. Epub 2010 Feb 18. PubMed PMID: 20170897; PubMed Central PMCID: PMC2833372.
  23. Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, Shellmer D, Moser AB, Morton DH. Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab. 2010 Apr;99(4):333-45. Epub 2010 Jan 12. Erratum in: Mol Genet Metab. 2011 Jun;103(2):202. Shelmer, Diana [corrected to Shellmer, Diana]. PubMed PMID: 20061171.
  24. Strauss KA, Donnelly P, Wintermark M. Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency. Brain. 2010 Jan;133(Pt 1):76-92. Epub 2009 Dec 23. PubMed PMID: 20032085.
  25. Strauss KA, Puffenberger EG. Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet. 2009;10:513-36. Review. PubMed PMID: 19630565.
  26. Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA. A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. Am J Hum Genet. 2009 Feb;84(2):134-47. Epub 2009 Jan 29. Erratum in: Am J Hum Genet. 2009 Jun;84(6):822. PubMed PMID: 19185282; PubMed Central PMCID: PMC2668000.
  27. Rider NL, Morton DH, Puffenberger E, Hendrickson CL, Robinson DL, Strauss KA. Immunologic and clinical features of 25 Amish patients with RMRP 70 A–>G cartilage hair hypoplasia. Clin Immunol. 2009 Apr;131(1):119-28. Epub 2009 Jan 16. PubMed PMID: 19150606.
  28. Sherman EA, Strauss KA, Tortorelli S, Bennett MJ, Knerr I, Morton DH, Puffenberger EG. Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet. 2008 Nov;83(5):604-9. PubMed PMID: 18926513; PubMed Central PMCID: PMC2668038.
  29. Jakubowski H, Boers GH, Strauss KA. Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans. FASEB J. 2008 Dec;22(12):4071-6. Epub 2008 Aug 15. PubMed PMID: 18708589.
  30. Strauss KA, Puffenberger EG, Bunin N, Rider NL, Morton MC, Eastman JT 3rd, Morton DH. Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency. Clin Immunol. 2008 Jul;128(1):31-8. Epub 2008 Apr 28. PubMed PMID: 18442948.
  31. Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D. Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). Clin Chem. 2008 Mar;54(3):542-9. Epub 2008 Jan 4. PubMed PMID: 18178665.
  32. Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, Morton DH. Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. Brain. 2007 Jul;130(Pt 7):1929-41. Epub 2007 May 23. PubMed PMID: 17522105.
  33. Strauss KA, Lazovic J, Wintermark M, Morton DH. Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. Brain. 2007 Jul;130(Pt 7):1905-20. Epub 2007 May 3. PubMed PMID: 17478444.
  34. Strauss KA, Morton DH, Puffenberger EG, Hendrickson C, Robinson DL, Wagner C, Stabler SP, Allen RH, Chwatko G, Jakubowski H, Niculescu MD, Mudd SH. Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency. Mol Genet Metab. 2007 Jun;91(2):165-75. Epub 2007 Apr 3. PubMed PMID: 17409006.
  35. Chwatko G, Boers GH, Strauss KA, Shih DM, Jakubowski H. Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice. FASEB J. 2007 Jun;21(8):1707-13. Epub 2007 Feb 27. PubMed PMID: 17327360.
  36. Strauss KA, O’Kane J, Cook JD. Novel comparison of capillary electrophoresis versus immunoassay in the measurement of total percent carbohydrate deficient transferrin. Clin Biochem. 2006 Aug;39(8):826-32. Epub 2006 May 19. PubMed PMID: 16806145.
  37. Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med. 2006 Mar 30;354(13):1370-7. PubMed PMID: 16571880.
  38. Strauss KA, Mazariegos GV, Sindhi R, Squires R, Finegold DN, Vockley G, Robinson DL, Hendrickson C, Virji M, Cropcho L, Puffenberger EG, McGhee W, Seward LM, Morton DH. Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant. 2006 Mar;6(3):557-64. PubMed PMID: 16468966.
  39. Strauss KA, Robinson DL, Vreman HJ, Puffenberger EG, Hart G, Morton DH. Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease. Eur J Pediatr. 2006 May;165(5):306-19. Epub 2006 Jan 25. PubMed PMID: 16435131.
  40. Strauss KA, Puffenberger EG, Craig DW, Panganiban CB, Lee AM, Hu-Lince D, Stephan DA, Morton DH. Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. Am J Med Genet A. 2005 Oct 15;138A(3):262-7. PubMed PMID: 16158439.
  41. Strauss KA. Glutaric aciduria type 1: a clinician’s view of progress. Brain. 2005 Apr;128(Pt 4):697-9. PubMed PMID: 15788552.
  42. Wang X, Huang QQ, Breckenridge MT, Chen A, Crawford TO, Morton DH, Jin JP. Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. J Biol Chem. 2005 Apr 8;280(14):13241-9. Epub 2005 Jan 23. PubMed PMID: 15665378.
  43. Craig DW, Huentelman MJ, Hu-Lince D, Zismann VL, Kruer MC, Lee AM, Puffenberger EG, Pearson JM, Stephan DA. Identification of disease causing loci using an array-based genotyping approach on pooled DNA. BMC Genomics. 2005 Sep 30;6:138. PubMed PMID: 16197552; PubMed Central PMCID: PMC1262713.
  44. Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet. 2005 Mar;76(3):510-6. Epub 2005 Jan 11. PubMed PMID: 15645389; PubMed Central PMCID: PMC1196401.
  45. Jakubik LD, Grossman MB, Daly-Parker MO, Gaffney LM, Strauss KA, Mars PA. Clinical and professional role development among experienced pediatric nurses: the pediatric medical nursing certificate program. J Spec Pediatr Nurs. 2004 Oct-Dec;9(4):113-22. PubMed PMID: 15703024.
  46. Mühlhausen C, Hoffmann GF, Strauss KA, Kölker S, Okun JG, Greenberg CR, Naughten ER, Ullrich K. Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27(6):885-92. Review. PubMed PMID: 15505396.
  47. Kölker S, Strauss KA, Goodman SI, Hoffmann GF, Okun JG, Koeller DM. Challenges for basic research in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27(6):843-9. Review. PubMed PMID: 15505391.
  48. Mühlhausen C, Ergün S, Strauss KA, Koeller DM, Crnic L, Woontner M, Goodman SI, Ullrich K, Braulke T. Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I. J Inherit Metab Dis. 2004;27(6):829-34. Review. PubMed PMID: 15505389.
  49. Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Morton DH, Stephan DA. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc Natl Acad Sci U S A. 2004 Aug 10;101(32):11689-94. Epub 2004 Jul 23. PubMed PMID: 15273283; PubMed Central PMCID: PMC511011.
  50. Puffenberger EG. Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):18-31. PubMed PMID: 12888983.
  51. Strauss KA, Morton DH. Type I glutaric aciduria, part 2: a model of acute striatal necrosis. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):53-70. PubMed PMID: 12888986.
  52. Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):38-52. PubMed PMID: 12888985.
  53. Morton DH, Morton CS, Strauss KA, Robinson DL, Puffenberger EG, Hendrickson C, Kelley RI. Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):5-17. PubMed PMID: 12888982.
  54. Strauss KA, Morton DH. Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease. Curr Treat Options Neurol. 2003 Jul;5(4):329-341. PubMed PMID: 12791200.
  55. Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003 May;34(1):91-6. PubMed PMID: 12704386.
  56. Jin JP, Brotto MA, Hossain MM, Huang QQ, Brotto LS, Nosek TM, Morton DH, Crawford TO. Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. J Biol Chem. 2003 Jul 11;278(28):26159-65. Epub 2003 May 5. PubMed PMID: 12732643.
  57. Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schäffer AA, Biesecker LG. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet. 2002 Sep;32(1):175-9. Epub 2002 Aug 19. PubMed PMID: 12185364.
  58. Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet. 2002 Nov 1;112(4):318-26. PubMed PMID: 12376931.
  59. Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI. Diagnosis and treatment of maple syrup disease: a study of 36 patients. Pediatrics. 2002 Jun;109(6):999-1008. PubMed PMID: 12042535.
  60. Kalsner LR, Rohr FJ, Strauss KA, Korson MS, Levy HL. Tyrosine supplementation in phenylketonuria: diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids. J Pediatr. 2001 Sep;139(3):421-7. PubMed PMID: 11562623.
  61. Gallardo ME, Desviat LR, Rodríguez JM, Esparza-Gordillo J, Pérez-Cerdá C, Pérez B, Rodríguez-Pombo P, Criado O, Sanz R, Morton DH, Gibson KM, Le TP, Ribes A, de Córdoba SR, Ugarte M, Peñalva MA. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Am J Hum Genet. 2001 Feb;68(2):334-46. Epub 2001 Jan 17. PubMed PMID: 11170888; PubMed Central PMCID: PMC1235267.
  62. Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet. 2000 Oct;67(4):814-21. Epub 2000 Aug 21. PubMed PMID: 10952871; PubMed Central PMCID: PMC1287886.
  63. Morton DH, Salen G, Batta AK, Shefer S, Tint GS, Belchis D, Shneider B, Puffenberger E, Bull L, Knisely AS. Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. Gastroenterology. 2000 Jul;119(1):188-95. PubMed PMID: 10889168.
  64. Higgins JJ, Morton DH, Loveless JM. Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. Neurology. 1999 Jan 1;52(1):146-50. PubMed PMID: 9921862.
  65. Bolk S, Puffenberger EG, Hudson J, Morton DH, Chakravarti A. Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet. 1999 Dec;65(6):1785-90. PubMed PMID: 10577936; PubMed Central PMCID: PMC1288392.
  66. Shaw SH, Carrasquillo MM, Kashuk C, Puffenberger EG, Chakravarti A. Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes. Genome Res. 1998 Feb;8(2):111-23. PubMed PMID: 9477339.
  67. Baric I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, Müller E, Morton DH, Superti-Furga A, Hoffmann GF. Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis. 1998 Jun;21(4):326-40. Review. PubMed PMID: 9700590.
  68. Gibson KM, Bennett MJ, Naylor EW, Morton DH. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr. 1998 Mar;132(3 Pt 1):519-23. PubMed PMID: 9544913.
  69. Higgins JJ, Morton DH, Patronas N, Nee LE. An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. Neurology. 1997 Dec;49(6):1717-20. PubMed PMID: 9409377.
  70. McIntosh I, Clough MV, Schäffer AA, Puffenberger EG, Horton VK, Peters K, Abbott MH, Roig CM, Cutone S, Ozelius L, Kwiatkowski DJ, Pyeritz RE, Brown LJ, Pauli RM, McCormick MK, Francomano CA. Fine mapping of the nail-patella syndrome locus at 9q34. Am J Hum Genet. 1997 Jan;60(1):133-42. PubMed PMID: 8981956; PubMed Central PMCID: PMC1712569.
  71. Hoon AH Jr, Reinhardt EM, Kelley RI, Breiter SN, Morton DH, Naidu SB, Johnston MV. Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes. J Pediatr. 1997 Aug;131(2):240-5. PubMed PMID: 9290610.
  72. Biery BJ, Stein DE, Morton DH, Goodman SI. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet. 1996 Nov;59(5):1006-11. PubMed PMID: 8900227; PubMed Central PMCID: PMC1914837.
  73. Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CH, Cass DT, Chakravarti A. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet. 1995 May;4(5):821-30. PubMed PMID: 7633441.
  74. Morton DH. Through my window–remarks at the 125th year celebration of Children’s Hospital of Boston. Pediatrics. 1994 Dec;94(6 Pt 1):785-91. PubMed PMID: 7970991.
  75. Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung’s disease. Cell. 1994 Dec 30;79(7):1257-66. PubMed PMID: 8001158.
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