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American Journal of Human Genetics|January 6, 2018
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial AneurysmRomain Bourcier, Solena Le Scouarnec, Stéphanie Bonnaud, et al.American Journal of Human Genetics|January 6, 2018
HIPAA's Individual Right of Access to Genomic Data: Reconciling Safety and Civil RightsBarbara J EvansAmerican Journal of Human Genetics|September 6, 2020
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract MalformationsDervla M Connaughton, Rufeng Dai, Danielle J Owen, et al.American Journal of Human Genetics|November 6, 2020
Analogies in Genomics Policymaking: Debates and DrawbacksJohn A Lynch, Aaron J Goldenberg, Nanibaa' A Garrison, et al.American Journal of Human Genetics|November 7, 2020
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal AbnormalitiesPauline E Schneeberger, Leonie von Elsner, Emma L Barker, et al.American Journal of Human Genetics|October 25, 2020
Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse ModelFaycal Guedj, Ashley E Siegel, Jeroen L A Pennings, et al.American Journal of Human Genetics|October 1, 1987
Genetic studies of low-abundance human plasma proteins. VI. Polymorphism of hemopexinM I Kamboh, R E FerrellAmerican Journal of Human Genetics|January 20, 2023
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencingXiao Chen, John Harting, Emily Farrow, et al.American Journal of Human Genetics|January 7, 2023
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegenerationIrena J J Muffels, Imre F Schene, Holger Rehmann, et al.American Journal of Human Genetics|January 7, 2023
Genotype first: Clinical genomics research through a reverse phenotyping approachCaralynn M Wilczewski, Justice Obasohan, Justin E Paschall, et al.Pageof 979