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American Journal of Human Genetics|August 3, 2019
Using the Data We Have: Improving Diversity in Genomic ResearchTeri A ManolioAmerican Journal of Human Genetics|November 8, 2018
FUT2 Variants Confer Susceptibility to Familial Otitis MediaRegie Lyn P Santos-Cortez, Charlotte M Chiong, Daniel N Frank, et al.American Journal of Human Genetics|November 8, 2018
Understanding the Hidden Complexity of Latin American Population IsolatesJazlyn A Mooney, Christian D Huber, Susan Service, et al.American Journal of Human Genetics|November 12, 2018
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch SyndromeJennifer A Wambach, Daniel J Wegner, Nivedita Patni, et al.American Journal of Human Genetics|October 5, 2019
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital DefectsAndrea Accogli, Sara Calabretta, Judith St-Onge, et al.American Journal of Human Genetics|October 8, 2019
Estimating the Genome-wide Mutation Rate with Three-Way Identity by DescentXiaowen Tian, Brian L Browning, Sharon R BrowningAmerican Journal of Human Genetics|October 8, 2019
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive ImpairmentSarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, et al.American Journal of Human Genetics|October 8, 2019
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during InfancyHuifang Yan, Guy Helman, Swetha E Murthy, et al.American Journal of Human Genetics|July 30, 2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset HypotoniaHanneke A Haijes, Maria J E Koster, Holger Rehmann, et al.American Journal of Human Genetics|July 30, 2019
Phenome-wide Burden of Copy-Number Variation in the UK BiobankMatthew Aguirre, Manuel A Rivas, James PriestPageof 979