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American Journal of Human Genetics|March 31, 2021
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologiesXuefang Zhao, Ryan L Collins, Wan-Ping Lee, et al.American Journal of Human Genetics|April 2, 2021
Association of structural variation with cardiometabolic traits in FinnsLei Chen, Haley J Abel, Indraniel Das, et al.American Journal of Human Genetics|July 11, 2020
A Platelet Function Modulator of Thrombin Activation Is Causally Linked to Cardiovascular Disease and Affects PAR4 Receptor SignalingBenjamin A T Rodriguez, Arunoday Bhan, Andrew Beswick, et al.American Journal of Human Genetics|August 1, 1989
Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304)N Dahl, P Goonewardena, H Malmgren, et al.American Journal of Human Genetics|September 1, 1989
Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?R Voss, E Ben-Simon, A Avital, et al.American Journal of Human Genetics|March 31, 2015
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndromeJanson White, Juliana F Mazzeu, Alexander Hoischen, et al.American Journal of Human Genetics|April 4, 2015
De novo mutations in SIK1 cause a spectrum of developmental epilepsiesJeanne Hansen, Chelsi Snow, Emily Tuttle, et al.American Journal of Human Genetics|August 9, 2020
Fostering Responsible Research on Ancient DNAJennifer K Wagner, Chip Colwell, Katrina G Claw, et al.American Journal of Human Genetics|April 22, 2023
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosisAndrew T Timberlake, Stephen McGee, Garrett Allington, et al.American Journal of Human Genetics|May 10, 2023
A joint transcriptome-wide association study across multiple tissues identifies candidate breast cancer susceptibility genesGuimin Gao, Peter N Fiorica, Julian McClellan, et al.Pageof 979