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Holmes Morton

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Emilie R Muelly; Don C Bigler; Scott C Bunce; Julie Mack; Gregory J Moore; D Holmes Morton; Kevin A Strauss
Biochemical correlates of neuropsychiatric illness in maple syrup urine disease.
Kevin A Strauss; Michael Zaragoza; Sandra Dreike; Lauren DuBiner; Richard I Kelley; Peng Li; D Holmes Morton; Jagat Narula; Navneet Narula; Xilma R Ortiz-González; Julia Platt; Vincent Procaccio; Erik G Puffenberger; Partho P Sengupta; Mariella Simon; Douglas C Wallace
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
Erik G Puffenberger; Calvin Shaw; Eric A Sherman; Carrie Sougnez; Kristian Cibulskis; Dominick Degrazio; Christopher Fiorentini; Stacey Gabriel; Robert N Jinks; Richard I Kelley; D Holmes Morton; Heng Wang; Baozhong Xin; Kevin A Strauss
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.

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All Publications

2013: Emilie R Muelly; Don C Bigler; Scott C Bunce; Julie Mack; Gregory J Moore; D Holmes Morton; Kevin A Strauss
Biochemical correlates of neuropsychiatric illness in maple syrup urine disease.
The Journal of clinical investigation 2013;123(4):1809-20.
2013: Kevin A Strauss; Michael Zaragoza; Sandra Dreike; Lauren DuBiner; Richard I Kelley; Peng Li; D Holmes Morton; Jagat Narula; Navneet Narula; Xilma R Ortiz-González; Julia Platt; Vincent Procaccio; Erik G Puffenberger; Partho P Sengupta; Mariella Simon; Douglas C Wallace
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(9):3453-8.
2012: Erik G Puffenberger; Calvin Shaw; Eric A Sherman; Carrie Sougnez; Kristian Cibulskis; Dominick Degrazio; Christopher Fiorentini; Stacey Gabriel; Robert N Jinks; Richard I Kelley; D Holmes Morton; Heng Wang; Baozhong Xin; Kevin A Strauss
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
Human mutation 2012;33(12):1639-46.
2012: Kevin A Strauss; Erik G Puffenberger; D Holmes Morton
One community's effort to control genetic disease.
American journal of public health 2012;102(7):1300-6.
2012: Erik G Puffenberger; Nicholas L Rider; Susan Robey-Bond; Roni A Setton; Eric A Sherman; Carrie Sougnez; Rebecca A Willert; Kimberly N Worcester; Nathan P Achilly; Ryan P Cassidy; Kristian Cibulskis; Rosa Dipiazza; James T Eastman; Christopher J Fiorentini; Christopher Francklyn; Stacey Gabriel; Kory F Heiken; Robert N Jinks; Johnny J Lawrence; Molly H Mahoney; Christopher J Miller; D Holmes Morton; Devika T Nair; Kristin A Politi; Kevin A Strauss
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
PloS one 2012;7(1):e28936.
2011: Nicholas L Rider; Donna L Robinson; Lauren Saunders; Kevin A Strauss; Chris Tselepis; Heinz Zoller; Krysta Brown; Armin Finkenstedt; Christine L Hendrickson; Nikolas Muenke; Erik G Puffenberger; D Holmes Morton
Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management.
American journal of hematology 2011;86(10):827-34.
2011: Kevin A Strauss; Silvia Tortorelli; Bridget Wardley; Joan Brumbaugh; Alana Duffy; Christine Hendrickson; Ann B Moser; Erik G Puffenberger; Nicholas L Rider; Donna Robinson; D Holmes Morton
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx.
Molecular genetics and metabolism 2011;104(1-2):93-106.
2011: Miguel A de la Fuente; Erwin W Gelfand; Silvia Giliani; Alejandra King; D Holmes Morton; Hans D Ochs; Sung-Yun Pai; Itai Pessach; Mike Recher; Nicholas L Rider; Kevin A Strauss; Jolan E Walter; Margaret Adair; Francisco A Bonilla; Luigi D Notarangelo
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
The Journal of allergy and clinical immunology 2011;128(1):139-46.
2011: Brian G Mohney; Jose S Pulido; Noralane M Lindor; Marie C Hogan; Mark B Consugar; Justin Peters; V Shane Pankratz; Samih H Nasr; Stephen J Smith; James Gloor; Vickie Kubly; Dorothy Spencer; Rebecca Nielson; Erik G Puffenberger; Kevin A Strauss; D Holmes Morton; Lama Eldahdah; Peter C Harris
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Ophthalmology 2011;118(6):1137-44.
2010: Kevin A Strauss; Bridget Wardley; Donna Robinson; Christine Hendrickson; Nicholas L Rider; Erik G Puffenberger; Diana Shelmer; Ann B Moser; Diana Shellmer; D Holmes Morton
Classical maple syrup urine disease and brain development: principles of management and formula design.
Molecular genetics and metabolism 2010;99(4):333-45.
2010: Naomi J Lohr; Jean P Molleston; Kevin A Strauss; Wilfredo Torres-Martinez; Eric A Sherman; Robert H Squires; Nicholas L Rider; Kudakwashe R Chikwava; Oscar W Cummings; D Holmes Morton; Erik G Puffenberger
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
American journal of human genetics 2010;86(3):447-53.
2009: Nicholas L Rider; D Holmes Morton; Erik Puffenberger; Christine L Hendrickson; Donna L Robinson; Kevin A Strauss
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
Clinical immunology (Orlando, Fla.) 2009;131(1):119-28.
2008: Eric A Sherman; Kevin A Strauss; Silvia Tortorelli; Michael J Bennett; Ina Knerr; D Holmes Morton; Erik G Puffenberger
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
American journal of human genetics 2008;83(5):604-9.
2008: Kevin A Strauss; Erik G Puffenberger; Nancy Bunin; Nicholas L Rider; Mary C Morton; James T Eastman; D Holmes Morton
Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.
Clinical immunology (Orlando, Fla.) 2008;128(1):31-8.
2007: Erik G Puffenberger; Kevin A Strauss; Keri E Ramsey; David Craig; Dietrich A Stephan; Donna L Robinson; Christine Hendrickson; Steven Gottlieb; David A Ramsay; Victoria M Siu; Gregory G Heuer; Peter B Crino; D Holmes Morton
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
Brain : a journal of neurology 2007;130(Pt 7):1929-41.
2007: Kevin A Strauss; Jelena Lazovic; Max Wintermark; D Holmes Morton
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
Brain : a journal of neurology 2007;130(Pt 7):1905-20.
2007: Kevin A Strauss; D Holmes Morton; Erik G Puffenberger; Christine Hendrickson; Donna L Robinson; Conrad Wagner; Sally P Stabler; Robert H Allen; Grazyna Chwatko; Hieronim Jakubowski; Mihai D Niculescu; S Harvey Mudd
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
Molecular genetics and metabolism 2007;91(2):165-75.
2006: Kevin A Strauss; Donna L Robinson; Hendrik J Vreman; Erik G Puffenberger; Graham Hart; D Holmes Morton
Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.
European journal of pediatrics 2006;165(5):306-19.
2006: Kevin A Strauss; Erik G Puffenberger; Matthew Huentelman; Steven Gottlieb; Seth E Dobrin; Jennifer M Parod; Dietrich A Stephan; D Holmes Morton
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
The New England journal of medicine 2006;354(13):1370-7.
2006: Kevin A Strauss; George V Mazariegos; Rakesh Sindhi; Robert H Squires; David N Finegold; G Vockley; Donna L Robinson; Christine Hendrickson; Mohamed A Virji; Lorna J Cropcho; Erik G Puffenberger; William McGhee; L M Seward; D Holmes Morton
Elective liver transplantation for the treatment of classical maple syrup urine disease.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2006;6(3):557-64.
2005: Kevin A Strauss; Erik G Puffenberger; David Craig; Corrie B Panganiban; Anne M Lee; Diane Hu-Lince; Dietrich A Stephan; D Holmes Morton
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.
American journal of medical genetics. Part A 2005;138A(3):262-7.
2005: Xin Wang; Qi-Quan Huang; Mark T Breckenridge; Aihua Chen; Thomas O Crawford; D Holmes Morton; J-P Jin
Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.
The Journal of biological chemistry 2005;280(14):13241-9.
2004: Erik G Puffenberger; Diane Hu-Lince; Jennifer M Parod; David Craig; Seth E Dobrin; Andrew R Conway; Elizabeth A Donarum; Kevin A Strauss; Travis Dunkley; Javier F Cardenas; Kara R Melmed; Courtney A Wright; Winnie Liang; Phillip Stafford; C Robert Flynn; D Holmes Morton; Dietrich A Stephan
Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(32):11689-94.
2003: Kevin A Strauss; D Holmes Morton
Type I glutaric aciduria, part 2: a model of acute striatal necrosis.
American journal of medical genetics. Part C, Seminars in medical genetics 2003;121C(1):53-70.
2003: Kevin A Strauss; Erik G Puffenberger; Donna L Robinson; D Holmes Morton
Type I glutaric aciduria, part 1: natural history of 77 patients.
American journal of medical genetics. Part C, Seminars in medical genetics 2003;121C(1):38-52.
2003: D Holmes Morton; Caroline S Morton; Kevin A Strauss; Donna L Robinson; Erik G Puffenberger; Christine Hendrickson; Richard I Kelley
Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.
American journal of medical genetics. Part C, Seminars in medical genetics 2003;121C(1):5-17.
2003: J-P Jin; Marco Brotto; M Moazzem Hossain; Qi-Quan Huang; Leticia S Brotto; Thomas Nosek; D Holmes Morton; Thomas O Crawford
Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.
The Journal of biological chemistry 2003;278(28):26159-65.
2003: Victoria E H Carlton; Baruch Z Harris; Erik G Puffenberger; A K Batta; Alex S Knisely; Donna L Robinson; Kevin A Strauss; Benjamin L Shneider; Wendell A Lim; Gerald Salen; D Holmes Morton; Laura N Bull
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
Nature genetics 2003;34(1):91-6.
2002: Richard I Kelley; Donna Robinson; Erik G Puffenberger; Kevin A Strauss; D Holmes Morton
Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.
American journal of medical genetics 2002;112(4):318-26.
2002: Marjorie J Rosenberg; Richa Agarwala; Gerald Bouffard; Joie Davis; Giuseppe Fiermonte; Mark S Hilliard; Thorsten Koch; Linda M Kalikin; Izabela Makalowska; D Holmes Morton; Elizabeth M Petty; James L Weber; Ferdinando Palmieri; Richard I Kelley; Alejandro A Schäffer; Leslie G Biesecker
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
Nature genetics 2002;32(1):175-9.
2002: D Holmes Morton; Kevin A Strauss; Donna L Robinson; Erik G Puffenberger; Richard I Kelley
Diagnosis and treatment of maple syrup disease: a study of 36 patients.
Pediatrics 2002;109(6):999-1008.
2000: jennifer johnston; Richard I Kelley; Thomas O Crawford; D Holmes Morton; Richa Agarwala; T Koch; Alejandro A Schäffer; Clair A Francomano; Leslie G Biesecker
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
American journal of human genetics 2000;67(4):814-21.
2000: D Holmes Morton; G Salen; Ashok K Batta; Sarah Shefer; Stephen G Tint; D Belchis; B Shneider; Erik G Puffenberger; Laura N Bull; A S Knisely
Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol.
Gastroenterology 2000;119(1):188-95.
1999: S Bolk; Erik G Puffenberger; J Hudson; D Holmes Morton; Aravinda Chakravarti
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.
American journal of human genetics 1999;65(6):1785-90.
1997: ALEXANDER HOON JR.; Elsie M Reinhardt; Richard I Kelley; SN Breiter; D Holmes Morton; Sakkubai Naidu; Michael V Johnston
Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes.
The Journal of pediatrics 1997;131(2):240-5.