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Journal of Perinatology : Official Journal of the California Perinatal Association|August 10, 2019
Infant mortality: the contribution of genetic disordersMonica H Wojcik, Talia S Schwartz, Katri E Thiele, et al.
BMC Medical Genetics|November 15, 2018
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case reportChrystal F Mavros, Catherine A Brownstein, Roshni Thyagrajan, et al.
NPJ Genomic Medicine|December 17, 2019
FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulationLaura V Milko, Flavia Chen, Kee Chan, et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals|March 3, 2006
Metabolism and disposition of a potent and selective GABA-Aalpha2/3 receptor agonist in healthy male volunteersStacey L Polsky-Fisher, Stanley Vickers, Donghui Cui, et al.
JIMD Reports|July 21, 2017
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two IndividualsMonica H Wojcik, Klaas J Wierenga, Lance H Rodan, et al.
Journal of Clinical Pharmacology|October 1, 2003
Pharmacokinetics of etoricoxib in patients with hepatic impairmentNancy G B Agrawal, Mark J Rose, Catherine Z Matthews, et al.
American Journal of Human Genetics|June 19, 2018
Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B MutationsAmy E O'Connell, Fanny Zhou, Manasvi S Shah, et al.
American Journal of Human Genetics|August 5, 2017
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in ChildhoodSimon Edvardson, Claudia M Nicolae, Pankaj B Agrawal, et al.
Biorxiv : the Preprint Server for Biology|May 3, 2023
WNT2B Deficiency Causes Increased Susceptibility to Colitis in Mice and Impairs Intestinal Epithelial Development in HumansAmy E O'Connell, Sathuwarman Raveenthiraraj, Comfort Adegboye, et al.
American Journal of Human Genetics|August 5, 2014
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathyPankaj B Agrawal, Christopher R Pierson, Mugdha Joshi, et al.
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