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Molecular Genetics and Metabolism Reports|August 27, 2015
Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase GeneYao H Zhang, Johan L Van Hove, Edward R B McCabe, et al.Human Molecular Genetics|June 28, 2016
Modeling craniofacial and skeletal congenital birth defects to advance therapiesCynthia L Neben, Ryan R Roberts, Katrina M Dipple, et al.American Journal of Medical Genetics. Part A|May 23, 2013
First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalitiesPeter H Bui, Naghmeh Dorrani, Derek Wong, et al.Journal of Biomedical Optics|March 5, 2008
In vivo time-resolved autofluorescence measurements to test for glycation of human skinJennifer Blackwell, Kamal M Katika, Laurent Pilon, et al.American Journal of Human Genetics|May 7, 2005
Single-gene disorders: what role could moonlighting enzymes play?Ganesh Sriram, Julian A Martinez, Edward R B McCabe, et al.Molecular Genetics and Metabolism Reports|November 30, 2016
Development of catecholamine and cortisol stress responses in zebrafishKaoru Eto, Jaime K Mazilu-Brown, Nicole Henderson-MacLennan, et al.American Journal of Medical Genetics. Part A|March 5, 2019
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencingKendell German, Gail H Deutsch, Amanda S Freed, et al.Pediatric Research|March 22, 2006
Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNAYao-Hua Zhang, Bing-Ling Huang, Ishwarlal Jialal, et al.American Journal of Medical Genetics. Part A|September 27, 2014
Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndromeFabiola Quintero-Rivera, Jennifer S Woo, Eric M Bomberg, et al.Cell Metabolism|June 4, 2009
Resistance to diet-induced obesity in mice with synthetic glyoxylate shuntJason T Dean, Linh Tran, Simon Beaven, et al.Pageof 7