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Kevin Strauss MD

TitleAdjunct Professor
InstitutionUMass Chan Medical School
AddressClinic for Special Children
535 Bunker Hill Road
Strasburg PA 17579
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    Other Positions
    InstitutionT.H. Chan School of Medicine
    DepartmentMolecular, Cell and Cancer Biology

    InstitutionT.H. Chan School of Medicine

    Collapse Biography 
    Collapse education and training
    Colgate University, Hamilton, NY, United StatesBABiology
    Harvard Medical School, Boston, MA, United StatesMD

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Dookwah M, Wagner SK, Ishihara M, Yu SH, Ulrichs H, Kulik MJ, Zeltner N, Dalton S, Strauss KA, Aoki K, Steet R, Tiemeyer M. Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants. Hum Mol Genet. 2023 Sep 07. PMID: 37676252.
      Citations:    Fields:    
    2. Strauss KA, Carson VJ, Bolettieri E, Everett M, Bollinger A, Bowser LE, Beiler K, Young M, Edvardson S, Fraenkel N, D'Amico A, Bertini E, Lingappa L, Chowdhury D, Lowes LP, Iammarino M, Alfano LN, Brigatti KW. WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy. Ann Clin Transl Neurol. 2023 Aug 25. PMID: 37632133.
      Citations:    Fields:    
    3. Yang H, Brown RH, Wang D, Strauss KA, Gao G. Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery. JCI Insight. 2023 05 08; 8(9). PMID: 37014712.
      Citations:    Fields:    Translation:HumansAnimals
    4. Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, McMillan HJ, Finkel RS, Swoboda KJ, Kwon JM, Zaidman CM, Chiriboga CA, Iannaccone ST, Krueger JM, Parsons JA, Shieh PB, Kavanagh S, Tauscher-Wisniewski S, McGill BE, Macek TA. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nat Med. 2022 07; 28(7):1381-1389. PMID: 35715566.
      Citations: 31     Fields:    Translation:HumansPHPublic HealthCTClinical Trials
    5. Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, McMillan HJ, Finkel RS, Swoboda KJ, Kwon JM, Zaidman CM, Chiriboga CA, Iannaccone ST, Krueger JM, Parsons JA, Shieh PB, Kavanagh S, Wigderson M, Tauscher-Wisniewski S, McGill BE, Macek TA. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nat Med. 2022 07; 28(7):1390-1397. PMID: 35715567.
      Citations: 34     Fields:    Translation:HumansCTClinical Trials
    6. Raghu VK, Dobrowolski SF, Sindhi R, Strauss KA, Mazariegos GV, Vockley J, Soltys K. Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria. Mol Genet Metab Rep. 2022 Jun; 31:100866. PMID: 35782613.
    7. Lynch MT, Maloney KA, Pollin TI, Streeten EA, Puffenberger EG, Strauss KA, Shuldiner AR, Mitchell BD. Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County. Am J Med Genet A. 2022 07; 188(7):2119-2128. PMID: 35442562.
      Citations:    Fields:    Translation:Humans
    8. Aronson SJ, Junge N, Trabelsi M, Kelmemi W, Hubert A, Brigatti KW, Fox MD, de Knegt RJ, Escher JC, Ginocchio VM, Iorio R, Zhu Y, ?z?ay F, Rahim F, El-Shabrawi MHF, Shteyer E, Di Giorgio A, D'Antiga L, Mingozzi F, Brunetti-Pierri N, Strauss KA, Labrune P, Mrad R, Baumann U, Beuers U, Bosma PJ. Disease burden and management of Crigler-Najjar syndrome: Report of a world registry. Liver Int. 2022 07; 42(7):1593-1604. PMID: 35274801.
      Citations: 3     Fields:    Translation:Humans
    9. Williams KB, Horst M, Young M, Pascua C, Puffenberger EG, Brigatti KW, Gonzaga-Jauregui C, Shuldiner AR, Gidding S, Strauss KA, Chowdhury D. Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B. BMC Cardiovasc Disord. 2022 03 17; 22(1):109. PMID: 35300601.
      Citations: 2     Fields:    Translation:Humans
    10. Day JW, Mendell JR, Mercuri E, Finkel RS, Strauss KA, Kleyn A, Tauscher-Wisniewski S, Tukov FF, Reyna SP, Chand DH. Correction to: Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy. Drug Saf. 2022 Feb; 45(2):191-192. PMID: 34940960.
      Citations:    Fields:    
    11. Ferguson CJ, Urso O, Bodrug T, Gassaway BM, Watson ER, Prabu JR, Lara-Gonzalez P, Martinez-Chacin RC, Wu DY, Brigatti KW, Puffenberger EG, Taylor CM, Haas-Givler B, Jinks RN, Strauss KA, Desai A, Gabel HW, Gygi SP, Schulman BA, Brown NG, Bonni A. APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain. Mol Cell. 2022 01 06; 82(1):90-105.e13. PMID: 34942119.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    12. Carson VJ, Young M, Brigatti KW, Robinson DL, Reed RM, Sohn J, Petrillo M, Farwell W, Miller F, Strauss KA. Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy. Muscle Nerve. 2022 01; 65(1):51-59. PMID: 34606118.
      Citations: 4     Fields:    Translation:Humans
    13. de Jong JO, Llapashtica C, Genestine M, Strauss K, Provenzano F, Sun Y, Zhu H, Cortese GP, Brundu F, Brigatti KW, Corneo B, Migliori B, Tomer R, Kushner SA, Kellendonk C, Javitch JA, Xu B, Markx S. Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder. Nat Commun. 2021 09 01; 12(1):4087. PMID: 34471112.
      Citations: 28     Fields:    Translation:HumansCells
    14. Day JW, Mendell JR, Mercuri E, Finkel RS, Strauss KA, Kleyn A, Tauscher-Wisniewski S, Tukov FF, Reyna SP, Chand DH. Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy. Drug Saf. 2021 10; 44(10):1109-1119. PMID: 34383289.
      Citations: 25     Fields:    Translation:HumansAnimals
    15. Henkel SAF, Salgado CM, Reyes-Mugica M, Soltys KA, Strauss K, Mazariegos GV, Squires RH, McKiernan PJ, Zhang X, Squires JE. Long-term liver transplant outcomes for progressive familial intrahepatic cholestasis type 1: The Pittsburgh experience. Pediatr Transplant. 2021 12; 25(8):e14108. PMID: 34339082.
      Citations: 2     Fields:    Translation:Humans
    16. Ewing CB, Soltys KA, Strauss KA, Sindhi R, Vockley J, McKiernan P, Squires RH, Bond G, Ganoza A, Khanna A, Mazariegos GV, Squires JE. Metabolic Control and "Ideal" Outcomes in Liver Transplantation for Maple Syrup Urine Disease. J Pediatr. 2021 Oct; 237:59-64.e1. PMID: 34153280.
      Citations:    Fields:    Translation:Humans
    17. Yang H, Brown RH, Wang D, Strauss KA, Gao G. AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies. Trends Mol Med. 2021 06; 27(6):520-523. PMID: 33714697.
      Citations: 5     Fields:    Translation:HumansCells
    18. McKiernan PJ, Squires JE, Squires RH, Vockley J, Mazariegos GV, Soltys K, Ganoza A, Strauss K, Khanna A, Sindhi R. Liver transplant for inherited metabolic disease among siblings. Clin Transplant. 2020 11; 34(11):e14090. PMID: 32955727.
      Citations: 1     Fields:    Translation:Humans
    19. Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Hailey J, Chopko S, Puffenberger EG, Brigatti KW, Miller F, Morton DH. Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. Mol Genet Metab. 2020 11; 131(3):325-340. PMID: 33069577.
      Citations: 9     Fields:    Translation:Humans
    20. Wenger O, Brown M, Smith B, Chowdhury D, Crosby AH, Baple EL, Yoder M, Laxen W, Tortorelli S, Strauss KA. Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A?>?G (p.Asn536Asp) variant propionic acidemia. Mol Genet Metab. 2020 11; 131(3):316-324. PMID: 33127324.
      Citations: 1     Fields:    Translation:HumansCells
    21. Imerci A, Strauss KA, Oleas-Santillan GF, Miller F. Orthopaedic manifestations of glutaric acidemia Type 1. J Child Orthop. 2020 Oct 01; 14(5):473-479. PMID: 33204356.
    22. Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, H?lker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 10 01; 107(4):763-777. PMID: 32937143.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    23. Strauss KA, Ahlfors CE, Soltys K, Mazareigos GV, Young M, Bowser LE, Fox MD, Squires JE, McKiernan P, Brigatti KW, Puffenberger EG, Carson VJ, Vreman HJ. Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier. Hepatology. 2020 06; 71(6):1923-1939. PMID: 31553814.
      Citations: 7     Fields:    Translation:Humans
    24. Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH. Branched-chain a-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes. Mol Genet Metab. 2020 03; 129(3):193-206. PMID: 31980395.
      Citations: 28     Fields:    Translation:Humans
    25. Dhawan A, Lawlor MW, Mazariegos GV, McKiernan P, Squires JE, Strauss KA, Gupta D, James E, Prasad S. Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives. J Gastroenterol Hepatol. 2020 Apr; 35(4):530-543. PMID: 31495946.
      Citations: 11     Fields:    Translation:Humans
    26. Celik N, Kelly B, Soltys K, Squires JE, Vockley J, Shellmer DA, Strauss K, McKiernan P, Ganoza A, Sindhi R, Bond G, Mazariegos G, Khanna A. Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation. Clin Transplant. 2019 11; 33(11):e13721. PMID: 31556146.
      Citations: 6     Fields:    Translation:Humans
    27. Bruce HA, Kochunov P, Mitchell B, Strauss KA, Ament SA, Rowland LM, Du X, Fisseha F, Kavita T, Chiappelli J, Wisner K, Sampath H, Chen S, Kvarta MD, Seneviratne C, Postolache TT, Bellon A, McMahon FJ, Shuldiner A, Elliot Hong L. Clinical and genetic validity of quantitative bipolarity. Transl Psychiatry. 2019 09 16; 9(1):228. PMID: 31527585.
      Citations: 2     Fields:    Translation:Humans
    28. Celik N, Squires JE, Soltys K, Vockley J, Shellmer DA, Chang W, Strauss K, McKiernan P, Ganoza A, Sindhi R, Bond G, Mazariegos G, Khanna A. Domino liver transplantation for select metabolic disorders: Expanding the living donor pool. JIMD Rep. 2019 Jul; 48(1):83-89. PMID: 31392117.
    29. Aoki K, Heaps AD, Strauss KA, Tiemeyer M. Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency. Clin Mass Spectrom. 2019 Nov; 14 Pt B:106-114. PMID: 34917767.
    30. Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, 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. Hum Mol Genet. 2019 02 15; 28(4):525-538. PMID: 30304524.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    31. 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 04; 126(4):475-488. PMID: 30691927.
      Citations: 16     Fields:    Translation:Humans
    32. Strauss KA, Carson VJ, Brigatti KW, Young M, Robinson DL, Hendrickson C, Fox MD, Reed RM, Puffenberger EG, Mackenzie W, Miller F. 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. J Pediatr Orthop. 2018 Nov/Dec; 38(10):e610-e617. PMID: 30134351.
      Citations: 13     Fields:    Translation:Humans
    33. Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, Posey JE, Adams DR, Lloyd-Evans E, Lupski JR, Gahl WA, Malicdan MCV. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet. 2018 11 01; 103(5):794-807. PMID: 30401460.
      Citations: 5     Fields:    
    34. Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA. TNNT1 nemaline myopathy: natural history and therapeutic frontier. Hum Mol Genet. 2018 09 15; 27(18):3272-3282. PMID: 29931346.
      Citations: 18     Fields:    Translation:HumansAnimals
    35. 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; 13(9):e0202104. PMID: 30188899.
      Citations: 1     Fields:    Translation:HumansCellsCTClinical Trials
    36. Mitchell E, Ranganathan S, McKiernan P, Squires RH, Strauss K, Soltys K, Mazariegos G, Squires JE. Hepatic Parenchymal Injury in Crigler-Najjar Type I. J Pediatr Gastroenterol Nutr. 2018 04; 66(4):588-594. PMID: 29176474.
      Citations: 4     Fields:    Translation:Humans
    37. Chowdhury D, Williams KB, Chidekel A, Pizarro C, Preedy C, Young M, Hendrickson C, Robinson DL, Kreiger PA, Puffenberger EG, Strauss KA. Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia. J Pediatr. 2017 12; 191:145-151. PMID: 29173298.
      Citations: 2     Fields:    Translation:Humans
    38. Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, 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 07; 101(6):985-994. PMID: 29198724.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    39. 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. 2018 01; 20(1):31-41. PMID: 28726809.
      Citations: 26     Fields:    Translation:HumansPHPublic Health
    40. Inokuchi JI, Go S, Yoshikawa M, Strauss K. Gangliosides and hearing. Biochim Biophys Acta Gen Subj. 2017 Oct; 1861(10):2485-2493. PMID: 28571946.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    41. 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 Oct; 140(4):1120-1129.e1. PMID: 28126377.
      Citations: 8     Fields:    Translation:HumansCells
    42. 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 03; 99(5):1117-1129. PMID: 27773430.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    43. Motzek A, Kne?evic 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; 11(3):e0151261. PMID: 26974671.
      Citations: 5     Fields:    Translation:HumansCellsCTClinical Trials
    44. Feier F, Schwartz IV, Benkert AR, Seda Neto J, Miura I, Chapchap P, da Fonseca EA, Vieira S, Zanotelli ML, Pinto e Vairo F, Camelo JS, Margutti AV, Mazariegos GV, Puffenberger EG, Strauss KA. Living related versus deceased donor liver transplantation for maple syrup urine disease. Mol Genet Metab. 2016 Mar; 117(3):336-43. PMID: 26786177.
      Citations: 7     Fields:    Translation:HumansCells
    45. Ghatan S, Kokoszka MA, Ranney AM, Strauss KA. Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases. Mov Disord Clin Pract. 2016 May-Jun; 3(3):296-299. PMID: 30713921.
    46. 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. PMID: 26538488.
      Citations: 16     Fields:    Translation:Humans
    47. 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. 2016 Apr; 18(4):396-404. PMID: 26270766.
      Citations: 17     Fields:    Translation:Humans
    48. 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, 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 Aug 06; 97(2):343-52. PMID: 26235985.
      Citations: 113     Fields:    Translation:HumansAnimalsCells
    49. 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 Sep-Oct; 116(1-2):44-52. PMID: 26095522.
      Citations: 18     Fields:    Translation:Humans
    50. Benkert AR, Young M, Robinson D, Hendrickson C, Lee PA, Strauss KA. Severe Salt-Losing 3?-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes. J Clin Endocrinol Metab. 2015 Aug; 100(8):E1105-15. PMID: 26079780.
      Citations: 11     Fields:    Translation:Humans
    51. 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 Aug; 138(Pt 8):2173-90. PMID: 26070982.
      Citations: 32     Fields:    Translation:Humans
    52. Soltys KA, Mazariegos GV, Strauss KA. Living related transplantation for MSUD--caution, or a new path forward? Pediatr Transplant. 2015 May; 19(3):247-8. PMID: 25808910.
      Citations: 1     Fields:    Translation:Humans
    53. Riley P, Weiner DS, Leighley B, Jonah D, Morton DH, Strauss KA, Bober MB, Dicintio MS. Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. J Child Orthop. 2015 Apr; 9(2):145-52. PMID: 25764362.
    54. 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. Hum Mol Genet. 2015 May 15; 24(10):2796-807. PMID: 25652401.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    55. 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 IN, Suzuki CK. CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. Am J Hum Genet. 2015 Jan 08; 96(1):121-35. PMID: 25574826.
      Citations: 66     Fields:    Translation:HumansAnimalsCells
    56. Bhattacharjee A, Sokolsky T, Wyman SK, Reese MG, Puffenberger E, Strauss K, Morton H, Parad RB, Naylor EW. Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. Genet Med. 2015 May; 17(5):337-47. PMID: 25255367.
      Citations: 34     Fields:    Translation:HumansPHPublic Health
    57. 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. Hum Mol Genet. 2014 Dec 01; 23(23):6395-406. PMID: 24986916.
      Citations: 28     Fields:    Translation:HumansCells
    58. 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 Apr; 137(Pt 4):1107-19. PMID: 24613933.
      Citations: 64     Fields:    Translation:Humans
    59. 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. 2014 Mar; 124(3):E95-103. PMID: 23946138.
      Citations: 7     Fields:    Translation:Humans
    60. 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. PMID: 23616120.
      Citations: 58     Fields:    Translation:HumansAnimalsCells
    61. 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; 123(4):1809-20. PMID: 23478409.
      Citations: 32     Fields:    Translation:Humans
    62. Ferkol TW, Puffenberger EG, Lie 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 Aug; 163(2):383-7. PMID: 23477994.
      Citations: 8     Fields:    Translation:Humans
    63. Strauss KA, DuBiner L, Simon M, Zaragoza M, Sengupta PP, Li P, Narula N, Dreike S, Platt J, Procaccio V, Ortiz-Gonz?lez 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. PMID: 23401503.
      Citations: 55     Fields:    Translation:Humans
    64. Puffenberger EG, Jinks RN, Wang H, Xin B, Fiorentini C, Sherman EA, Degrazio D, Shaw C, Sougnez C, Cibulskis K, Gabriel S, Kelley RI, Morton DH, Strauss KA. A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Hum Mutat. 2012 Dec; 33(12):1639-46. PMID: 23065719.
      Citations: 52     Fields:    Translation:HumansCells
    65. Strauss KA, Puffenberger EG, Morton DH. One community's effort to control genetic disease. Am J Public Health. 2012 Jul; 102(7):1300-6. PMID: 22594747.
      Citations: 17     Fields:    Translation:Humans
    66. 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. PMID: 22279524.
      Citations: 149     Fields:    Translation:Humans
    67. 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. PMID: 21839471.
      Citations: 47     Fields:    Translation:Humans
    68. 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. PMID: 21815188.
      Citations: 12     Fields:    Translation:HumansCells
    69. 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. PMID: 21820344.
      Citations: 27     Fields:    Translation:HumansPHPublic HealthCTClinical Trials
    70. 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):139-146. PMID: 21570718.
      Citations: 18     Fields:    Translation:HumansCells
    71. 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. PMID: 21387375.
      Citations: 156     Fields:    Translation:HumansAnimals
    72. 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. PMID: 21236492.
      Citations: 17     Fields:    Translation:HumansCells
    73. 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. PMID: 21070693.
      Citations: 7     Fields:    Translation:Humans
    74. Orlova KA, Tsai V, Baybis M, Heuer GG, Sisodiya S, Thom M, Strauss K, Aronica E, Storm PB, Crino PB. Early progenitor cell marker expression distinguishes type II from type I focal cortical dysplasias. J Neuropathol Exp Neurol. 2010 Aug; 69(8):850-63. PMID: 20613634.
      Citations: 28     Fields:    Translation:HumansCells
    75. Orlova KA, Parker WE, Heuer GG, Tsai V, Yoon J, Baybis M, Fenning RS, Strauss K, Crino PB. STRADalpha deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice. J Clin Invest. 2010 May; 120(5):1591-602. PMID: 20424326.
      Citations: 67     Fields:    Translation:HumansAnimalsCells
    76. 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. PMID: 20170897.
      Citations: 101     Fields:    Translation:HumansCells
    77. Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, Shellmer D, Shelmer 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. PMID: 20061171.
      Citations: 56     Fields:    Translation:HumansCTClinical Trials
    78. Strauss KA, Donnelly P, Wintermark M. Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency. Brain. 2010 Jan; 133(Pt 1):76-92. PMID: 20032085.
      Citations: 23     Fields:    Translation:Humans
    79. 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. PMID: 19185282.
      Citations: 35     Fields:    Translation:HumansAnimalsCells
    80. 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. PMID: 19150606.
      Citations: 18     Fields:    Translation:Humans
    81. Strauss KA, Puffenberger EG. Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet. 2009; 10:513-36. PMID: 19630565.
      Citations: 40     Fields:    Translation:HumansAnimals
    82. 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. PMID: 18926513.
      Citations: 17     Fields:    Translation:HumansCells
    83. 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. PMID: 18708589.
      Citations: 24     Fields:    Translation:Humans
    84. Strauss KA, Puffenberger EG, Bunin N, Rider NL, Morton MC, Eastman JT, 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. PMID: 18442948.
      Citations: 10     Fields:    Translation:Humans
    85. 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. PMID: 18178665.
      Citations: 33     Fields:    Translation:HumansPHPublic Health
    86. 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. PMID: 17522105.
      Citations: 49     Fields:    Translation:HumansCells
    87. 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. PMID: 17478444.
      Citations: 34     Fields:    Translation:Humans
    88. 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. PMID: 17409006.
      Citations: 28     Fields:    Translation:HumansPHPublic Health
    89. 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. PMID: 17327360.
      Citations: 34     Fields:    Translation:HumansAnimals
    90. 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. PMID: 16571880.
      Citations: 287     Fields:    Translation:HumansPHPublic Health
    91. 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. PMID: 16435131.
      Citations: 40     Fields:    Translation:Humans
    92. 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. PMID: 16158439.
      Citations: 8     Fields:    Translation:Humans
    93. Strauss KA. Glutaric aciduria type 1: a clinician's view of progress. Brain. 2005 Apr; 128(Pt 4):697-9. PMID: 15788552.
      Citations: 1     Fields:    Translation:Humans
    94. 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. PMID: 15273283.
      Citations: 42     Fields:    Translation:HumansCells
    95. 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. PMID: 12888986.
      Citations: 37     Fields:    Translation:Humans
    96. 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. PMID: 12888985.
      Citations: 100     Fields:    Translation:HumansCells
    97. 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. PMID: 12888982.
      Citations: 20     Fields:    Translation:Humans
    98. Strauss KA, Morton DH. Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease. Curr Treat Options Neurol. 2003 Jul; 5(4):329-341. PMID: 12791200.
    99. 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. PMID: 12704386.
      Citations: 94     Fields:    Translation:HumansCells
    100. 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. PMID: 12042535.
      Citations: 65     Fields:    Translation:HumansPHPublic Health
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