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Journal of Biomedical Informatics|May 28, 2014
Usability study of clinical exome analysis software: top lessons learned and recommendationsCasper Shyr, Andre Kushniruk, Wyeth W WassermanJournal of the American Medical Informatics Association : JAMIA|June 29, 2015
Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselorsCasper Shyr, Andre Kushniruk, Clara D M van Karnebeek, et al.BMC Medical Genomics|December 1, 2017
Correction to: FLAGS, frequently mutated genes in public exomesCasper Shyr, Maja Tarailo-Graovac, Michael Gottlieb, et al.BMC Medical Genomics|December 4, 2014
FLAGS, frequently mutated genes in public exomesCasper Shyr, Maja Tarailo-Graovac, Michael Gottlieb, et al.Nucleic Acids Research|May 13, 2010
Global mapping of binding sites for Nrf2 identifies novel targets in cell survival response through ChIP-Seq profiling and network analysisDeepti Malhotra, Elodie Portales-Casamar, Anju Singh, et al.Child Neurology Open|May 16, 2017
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor NeuropathyJessica J Y Lee, Clara D M van Karnebeek, Britt Drögemoller, et al.Cold Spring Harbor Molecular Case Studies|January 5, 2017
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutationStephanie C Bourne, Katelin N Townsend, Casper Shyr, et al.Orphanet Journal of Rare Diseases|January 29, 2014
A novel recurrent mutation in ATP1A3 causes CAPOS syndromeMichelle K Demos, Clara Dm van Karnebeek, Colin Jd Ross, et al.Molecular Genetics and Metabolism|March 14, 2016
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritisSaikat Santra, Jessie M Cameron, Casper Shyr, et al.European Journal of Human Genetics : EJHG|January 22, 2015
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementAlexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, et al.Pageof 3