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American Journal of Human Genetics|December 3, 2015
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 ChainClare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, 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|June 1, 1988
Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLAH Y Zoghbi, S P Daiger, A McCall, et al.American Journal of Human Genetics|October 1, 2019
Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic TraitsChelsea K Raulerson, Arthur Ko, John C Kidd, et al.American Journal of Human Genetics|October 1, 2019
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill InfantsStephen F Kingsmore, Julie A Cakici, Michelle M Clark, et al.American Journal of Human Genetics|June 1, 1988
Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII geneH Youssoufian, C Wong, S Aronis, et al.American Journal of Human Genetics|November 1, 1989
Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase geneT Wang, Y Okano, R Eisensmith, et al.American Journal of Human Genetics|April 1, 1986
Distribution of adult lactase phenotypes in the Tuareg of NigerG Flatz, C Schildge, H SekouAmerican Journal of Human Genetics|August 20, 2019
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related EncephalopathyClara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, et al.American Journal of Human Genetics|March 1, 1985
A genetic model for age at onset in Huntington diseaseL A Farrer, P M ConneallyPageof 981