Published Papers

Our primary goal will always be finding effective, affordable treatments for our patients, and we conduct research to that end. However, over the years, we have also worked to share our methods and discoveries with the broader scientific community. In the 30 years since its founding, Clinic staff have published more than 110 peer-reviewed research papers, fueled by close internal collaboration between clinical and laboratory staff and effective cooperation with academic, scientific, and clinical partners.

  1. Erin L. Crowgey, Michael C. Washburn, E. Anders Kolb, Erik G. Puffenberger. Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania. The Journal of Molecular Diagnostics. 25 April 2019. doi: 10.1016/j.jmoldx.2019.03.004

  2. Kazuhiro Aoki, Adam D. Heaps, Kevin A. Strauss, Michael Tiemeyer. Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency. Clinical Mass Spectrometry. 16 March 2019. doi: 10.1016/j.clinms.2019.03.001

  3. Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier. Mol Genet Metab. 2019 Jan 21. pii: S1096-7192(18)30764-9. doi: 10.1016/j.ymgme.2019.01.013 [Epub ahead of print]

  4. Marie Morimoto, Helen Waller-Evans, Zineb Ammous, Xiaofei Song, Kevin A. Strauss, Davut Pehlivan, Claudia Gonzaga-Jauregui, Erik G. Puffenberger, Charles R. Holst, Ender Karaca, Karlla W. Brigatti, Emily Maguire, Zeynep H. Coban-Akdemir, Akiko Amagata, C. Christopher Lau, Xenia Chepa-Lotrea, Ellen Macnamara, Tulay Tos, Sedat Isikay, Michele Nehrebecky, John D. Overton, Matthew Klein, Thomas C. Markello, Jennifer E. Posey, David R. Adams, Emyr Lloyd-Evans, James R. Lupski, William A. Gahl, May Christine V. Malicdan. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. The American Journal of Human Genetics. October 25, 2018. DOI: 10.1016/j.ajhg.2018.09.014. [Epub ahead of print]

  5. Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder M, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Human Molecular Genetics. 2018 Oct 9. doi: 10.1093/hmg/ddy344. [Epub ahead of print]

  6. Carson VJ, Puffenberger EG, Bowser LE, Brigatti KW, Young M, Korulczyk D, Rodrigues AS, Loeven KK, Strauss KA. Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. PLoS One. 2018 Sep 6; 13 (9): e0202104. doi: 10.1371/journal.pone.0202104. eCollection 2018.

  7. Kevin A. Strauss, MD, Freeman Miller, MD, Vincent Carson, MD, Karlla W. Brigatti, MS, LCGC, Millie Young, RNC, Donna L. Robinson, CRNP, Christine Hendrickson, RNC, Erik G. Puffenberger, Michael D. Fox, MD, Robert M. Reed, MD, William Mackenzie, MD. Preliminary safety and tolerability of a novel subcutaneous intrathecal catheter system for repeated outpatient dosing of nusinersen to children and adults with spinal muscular atrophy. Journal of Pediatric Orthopaedics, 2018 Aug 21. doi: 10.1097/BPO.0000000000001247 [Epub ahead of print]

  8. William Lostal, J. Andoni Urtizberea, Isabelle Richard, the calpain 3 study group. 233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15-17 September 2017. Neuromuscular Disorders 28, 2018, 540-549. doi: 10.1016/j.nmd.2018.03.010 [Epub ahead of print]

  9. Michael D. Fox, Vincent J. Carson, Han-Zhong Feng, Michael W. Lawlor, John T. Gray, Karlla W. Brigatti, J.-P. Jin, Kevin A. Strauss. TNNT1 nemaline myopathy: natural history and therapeutic frontier. Human Molecular Genetics, 2018, Vol.0, No.0 1-11. doi: 10.1093/hmg/ddy233. [Epub ahead of print]

  10. Yang Tan T, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti KW, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao C, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Am J Hum Genet. 2017 Dec. 101(6):985-994. doi: http://dx.doi.org/10.1016/j.ajhg.2017.10.006. [Epub ahead of print]

  11. Chowdhury D, Williams KB, Chidekel A, Pizarro C, Preedy C, Young M, Hendrickson C, Robinson DL, Kreiger P, Puffenberger EG, Strauss KA. Management of Congenital Health Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia. The J of Pediatr. 2017 Dec. doi: 10.1016/j.jpeds.2017.08.073. [Epub ahead of print]

  12. Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG. Genomic diagnostics within a medically underserved population: efficacy and implications. Genet Med. 2017 Jul 20. doi: 10.1038/gim.2017.76. [Epub ahead of print]

  13. Inokuchi JI, Go S, Yoshikawa M, Strauss K. Gangliosides and Hearing. Biochim Biophys Acta. 2017 May 30. pii: S0304-4165(17)30177-0. doi: 10.1016/j.bbagen.2017.05.025. [Epub ahead of print]

  14. Aubert G, Strauss KA, Lansdorp PM, Rider NL. Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.  J Allergy Clin Immunol. 2017 Jan 23. pii: S0091-6749(17)30055-6. doi: 10.1016/j.jaci.2016.11.051. [Epub ahead of print]

  15. Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover, JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Am J Hum Genet. 2016 Nov 3;99(5):1117-1129. doi: 10.1016/j.ajhg.2016.09.010. Epub 2016 Oct 20.

  16. Motzek A, Knezevic J, Switzeny OJ, Cooper A, Baric I, Beluzic R, Strauss KA, Puffenberger EG, Mudd SH, Vugrek O, Zechner U. Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency. PLoS One. 2016 Mar 14;11(3):e0151261. doi: 10:1371/journal.pone.0151261. eCollection 2016.

  17. Herrick JR, Paik T, Strauss KJ, Schoolcraft WB, Krisher RL. Building a better mouse embryo assay: effects of mouse strain and in vitro maturation on sensitivity to contaminants of the culture environment. J Assist Reprod Genet. 2016 Feb;33(2):237-45. doi: 10.1007/s10815-015-0623-y.

  18. Kochunov P, Fu M, Nugent K, Wright SN, Du X, Muellerklein F, Morrissey M, Eskandar G, Shukla DK, Jahanshad N, Thompson PM, Patel B, Postolache TT, Strauss KA, Shuldiner AR, Mitchell BD, Hong LE. Heritability of complex white matter diffusion traits assessed in a population isolate. Hum Brain Mapp. 2016 Feb;37(2):525-35. doi: 10.1002/hbm.23047.

  19. Feier F, Schwartz IV, Benkert AR, Neto JS, Miura I, Chapchap P, da Fonseca EA, Vieira S, Zanotelli ML, Vairo FP, Camelo JS Jr, Margutti AV, Mazariegos GV, Puffenberger EG, Strauss KA. Living related versus deceased donor liver transplantation for maple syrup urine disease. Mol Genet Metab. 2016 Jan 12. pii: S1096-7192(16)30005-1. doi: 10.1016/j.ymgme.2016.01.005.

  20. Manoli I, Myles JG, Sloan JL, Carrillo-Carrasco N, Morava E, Strauss KA, Morton H, Venditti CP. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. Genet Med. 2015 Aug 13. doi: 10.1038/gim.2015.107.

  21. Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am J Hum Genet. 2015 Jul 28. pii: S0002-9297(15)00280-3. doi: 10.1016/j.ajhg.2015.07.004.

  22. Strauss KA, Ferreira C, Bottiglieri T, Zhao X, Arning E, Zhang S, Zeisel SH, Escolar ML, Presnick N, Puffenberger EG, Vugrek O, Kovacevic L, Wagner C, Mazariegos GV, Mudd SH, Soltys K. Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. Mol Genet Metab. 2015 Jun 18. doi: 10.1016/j.ymgme.2015.06.00.

  23. Benkert AR, Young M, Robinson D, Hendrickson C, Lee PA, Strauss KA. Severe salt-losing 3β-hydroxysteroid dehydrogenase deficiency: treatment and outcomes of HSD3B2 c.35G>A homozygotes. J Clin Endocrinol Metab. 2015 Jun 16. doi: jc20152098.

  24. Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. 2015 June 12. doi: 10.1093/brain/awv153.

  25. Soltys KA, Mazariegos GV, Strauss KA. Living related transplantation for MSUD–caution, or a new path forward? Pediatric Transplantation. 2015 May 19. doi: 10.1111/petr.12423.

  26. Streeten EA, Ramirez S, Eliades M, Jaimungal S, Chandrasekaran S, Kathleen R, Morton DH, Puffenberger EG, Herskovitz R, Leonard MB. Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure. Bone. 2015 Apr 16. doi: 10.1016/j.bone.2015.04.007.

  27. Yoshikawa M, Go S, Suzuki S, Suzuki A, Katori Y, Morlet T, Gottlieb SM, Fujiwara M, Iwasaki K, Strauss KA, Inokuchi J. Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells. Human Molecular Genetics. 2015 Mar 5. doi: 10.1093/hmg/ddv041.

  28. Riley P, Weiner DS, Leighley B, Jonah D, Morton DH, Strauss KA, Bober MB, Dicintio MS. Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. 2015 Feb 27. doi: 10.1007/s11832-015-0646-z.

  29. Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee INW, Suzuki CK. CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease. American Journal of Human Genetics. 2015 Jan 8. doi: 10.1016/j.ajhg.2014.12.003.

  30. Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D’Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain. 2014. doi:10.1093/brain/awu022.

  31. Bhattacharjee, A, Sokolsky, T, Wyman, SK, Reese, MG, Puffenberger, EG, Strauss, KA, Morton, DH, Parad, RB, Naylor, EW. Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing. Genetics in Medicine. 2014.  doi:10.1038/gim.2014.117.

  32. Strauss KA, Markx S, Georgi B, Paul SM, Jinks RN, Hoshi T, McDonald A, First MB, Liu W, Benkert AR, Heaps AD, Tian Y,  Chakravarti A, Bucan M, Puffenberger EG. A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder. Human Molecular Genetics. 2014. doi: 10.1093/hmg/ddu335.

  33. 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.

  34. 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

  35. 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.

  36. 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.

  37. 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.

  38. 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.

  39. 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.

  40. 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.

  41. 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.

  42. 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.

  43. 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.

  44. 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.

  45. 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.

  46. 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.

  47. 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.

  48. 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.

  49. [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.

  50. 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.

  51. 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.

  52. 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.

  53. 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.

  54. 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.

  55. 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.

  56. 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.

  57. Strauss KA, Puffenberger EG. Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet. 2009;10:513-36. Review. PubMed PMID: 19630565.

  58. 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.

  59. 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.

  60. 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.

  61. 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.

  62. 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.

  63. 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.

  64. 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.

  65. 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.

  66. 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.

  67. 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.

  68. 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.

  69. 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.

  70. 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.

  71. 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.

  72. 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.

  73. Strauss KA. Glutaric aciduria type 1: a clinician’s view of progress. Brain. 2005 Apr;128(Pt 4):697-9. PubMed PMID: 15788552.

  74. 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.

  75. 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.

  76. 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.

  77. 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.

  78. 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.

  79. 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.

  80. 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.

  81. 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.

  82. 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.

  83. 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.

  84. 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.

  85. 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.

  86. 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.

  87. 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.

  88. 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.

  89. 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.

  90. 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.

  91. 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.

  92. 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.

  93. 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.

  94. 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.

  95. 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.

  96. 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.

  97. 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.

  98. 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.

  99. 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.

  100. 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.

  101. 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.

  102. 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.

  103. 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.

  104. 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.

  105. 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.

  106. 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.

  107. 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.

  108. Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R, et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet. 1994 Aug;3(8):1217-25. PubMed PMID: 7987295.

  109. Angrist M, Kauffman E, Slaugenhaupt SA, Matise TC, Puffenberger EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE, et al. A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet. 1993 Aug;4(4):351-6. PubMed PMID: 8401581.

  110. Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest. 1992 May;89(5):1674-80. PubMed PMID: 1569206; PubMed Central PMCID: PMC443046.

  111. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991 Jul 25;352(6333):337-9. PubMed PMID: 1852208.

  112. Puffenberger EG, Francomano CA. PCR-based detection of polymorphic DdeI and KpnI sites in intron 5 of the adenylate kinase (AK1) gene. Nucleic Acids Res. 1991 Mar 11;19(5):1161. PubMed PMID: 1673557; PubMed Central PMCID: PMC333811.

  113. Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI. Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet. 1991 Oct 1;41(1):89-95. PubMed PMID: 1951469.

  114. Morton DH, Kelley RI. Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples. J Pediatr. 1990 Sep;117(3):439-42. PubMed PMID: 2391601.

  115. Kelley RI, Morton DH. 3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia. Clin Chim Acta. 1988 Jun 30;175(1):19-26. PubMed PMID: 3168281.

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