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Human Genetics and Genomics Advances cover

Human Genetics and Genomics Advances

IF3.6
Papers543
Citations775
Journal Papers 535
Publication Date
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EndoPRS-SS: Summary-statistic based incorporation of endophenotypes to improve risk prediction
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-10-01
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deleteElena V. Kharitonova; Brian Chen; Quan Sun; Franklin Ockerman; Chang Chen; Laura Y. Zhou; Shulan Tian; Hongyuan Cao; Carole Ober; Nancy J. Cox; Ran Tao; Yun Li
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A homozygous missense variant in NRROS gene is associated with intracranial calcifications, neurodegeneration, and severe infantile epilepsy syndrome
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-09-28
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deleteMythily Ganapathi; Sean D. Fraser; Joseph W. Ryu; Georgette Bruenner; Daniel Page; Lisa J. Randall; Charles A. LeDuc; Shefali Karkare; Ingo Helbig; Amanda J. McPartland; Patricia A. Lanzano; Peyman Bizargity; Fraser D. Russell; Robert J. Harvey; Wendy K. Chung
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A variance QTL approach to uncover gene-fish oil supplement interaction loci for 14 circulating unsaturated fatty acid traits
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-09-18
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deleteSusan Adanna Ihejirika; Eunice Stephen; Kaixiong Ye
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Massively parallel functional profiling prioritises breast cancer risk variants and implicates CCDC88C in ER-positive breast cancer
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-09-17
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deleteKate Mackie; Harriet Kemp; Andrea Gunnell; James B. Studd; Molly Went; Philip Law; Katarzyna Tomczyk; Rafaela Ferreira; Ernesto Lopez; Selin Sevgi; Yunjiao Lu; Alisa Zvereva; Nick Orr; Richard S. Houlston; Nichola Johnson; Olivia Fletcher; Syed Haider
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Inherited Predisposition to Increased Systemic Inflammation Predicts a Broad Class of Disease Phenotypes
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-09-04
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deleteHarkeran K. Jandu; Ayokunle Olowofela; Megan Shuey; Kali Quade; Bjoernar Tuftin; Laura M. Raffield; Yun Li; Nancy Cox; Paul L. Auer; Sarah L. Kerns
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Multi-omic characterization of the Hispanic/Latino blood lipidome reveals an additional locus and attenuated genetic prediction
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-09-01
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PREAI
deleteZhu, Wanying; Chen, Hung-hsin; Highland, Heather M.; Giles, Corey; Meikle, Peter J.; Lin, Phillip; Petty, Lauren E.; Polikowsky, Hannah G.; Petty, Alex S.; Anwar, Mohammad Y.; Zhang, Xinruo; Curran, Joanne E.; Frankel, Elizabeth G.; Roshani, Rashedeh; Landman, Joshua M.; Castrodad-Rivera, Gabriela S.; Herndon, Caroline; McCormick, Joseph B.; Fisher-Hoch, Susan P.; Gordon-Larsen, Penny; Gamazon, Eric R.; North, Kari E.; Below, Jennifer E.
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Elucidating shared genetic signals between type 2 diabetes and three neurodegenerative dementia phenotypes
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-09-01
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deleteAna Luiza Arruda; Archit Singh; Ozvan Bocher; Benjamin F. Voight; Andrew P. Morris; Eleftheria Zeggini
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Genetic dissection of cardiac iron regulation using transcriptome network analysis and systems genetics in BXD mice
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-09-01
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deleteAkhilesh K. Bajpai; Qingqing Gu; Rakesh Kumar; Xiangtang Li; Athena Starlard-Davenport; Wenjing Zhang; Enkhsaikhan Purevjav; Byron C. Jones; Qingyin Zheng; Dong Wang; Lu Lu
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The stress-induced transcription factor ATF4 has multiple conserved retrocopies that can alter gene expression
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-08-27
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deleteHans M. Dalton; Elizabeth M. Brydon; Tiffany S. Chan; Katie G. Owings; Mandi M.L. Wild; Naomi J. Young; Clement Y. Chow
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Considering social risk alongside genetic risk for bipolar disorder in the All of Us Research Program
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-08-25
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deleteRachel R. Sharp; Micah Hysong; Robert G. Mealer; Laura M. Raffield; LáShauntá Glover; Michael I. Love
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Variant Harmonization Critically Determines Polygenic Score Transferability for Lipid Traits in Samoan Populations
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-08-22
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deleteToni-Ann J. Yapp; Mohanraj Krishnan; Shuwei Liu; Samantha L. Manna; Hong Cheng; Take Naseri; Muagututuʻa Sefuiva Reupena; Satupaʻitea Viali; John Tuitele; Ranjan Deka; Nicola L. Hawley; Stephen T. McGarvey; Daniel E. Weeks; Ryan L. Minster; Jenna C. Carlson
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The pleiotropic landscape of rare variant associations with multiple cancers in large biobanks
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-08-20
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deleteAustin Hammermeister Suger; Tabitha A. Harrison; Jiachen Zhang; Michael C. Wu; Burcu F. Darst; Sara Lindström
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Underrepresented Voices in a Colorado Biobank: Perspectives from Focus Groups on Motivations, Return of Results, and Data Sharing
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-08-18
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deleteCarissa A. Sherman; Betzaida L. Maldonado; Lucas O. Rozell; Sarah D. Slack; Isabella E. Eaton; Doreen E. Martinez; Randi K. Johnson; Katrina G. Claw
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Sources of distrust in precision medicine research: Findings from a focus group study with adults with disabilities
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-08-18
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deleteKatharine Peglow; Alejandra N. Aguirre; Magdalena Eitenberger; Sandra Soo-Jin Lee; Shawneequa Callier; Paul Spicer; Howard A. Rosenblum; Maya Sabatello
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The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-08-07
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deletePetra Liskova; Lubica Dudakova; Karolina Kaminska; Laura Kühlewein; Stefanida Shliaga; Rina Leibu; Miriam Ehrenberg; Dinah Zur; Jana Zernant; Miriam Bauwens; Gavin Arno; Isabelle Müller; Focke Ziemssen; Viktoria Bothe; Francesca Cancellieri; Julie De Zaeytijd; Pascale Mazzola; Winston Lee; Bohdan Kousal; Marie Vajter
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Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk loci
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-08-01
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deleteHerrick, Noah; Goovaerts, Seppe; Manchel, Alexandra; Lee, Myoung Keun; Zhang, Xinyi; Davies, Amy; Carlson, Jenna C.; Leslie-Clarkson, Elizabeth J.; Lewis, Sarah J.; Marazita, Mary L.; Cotney, Justin; Claes, Peter; Shaffer, John R.; Weinberg, Seth M.
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Aggregate variant calling using short reads enables population and disease studies for paralogous genes
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-08-01
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deleteProdanov, Timofey; Byun, Sang Yoon; Bansal, Vikas
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Identification of genetic variants associated with idiopathic inflammatory myopathies via cross-trait analysis with B cell lymphomas
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-08-01
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deleteChe, Weng Ian; Jarvis, James N.; Sysojev, Anton Oberg; Zhu, Catherine; Patasova, Karina; Smedby, Karin E.; Lundberg, Ingrid E.; Westerlind, Helga; Lamb, Janine A.; Holmqvist, Marie
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Genetic association meta-analysis is susceptible to confounding by between-study cryptic relatedness
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-08-01
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PREAI
deleteTu, Tiffany; Ochoa, Alejandro
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Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families
deleteHuman Genetics and Genomics Advances
IF3.6
delete2026-07-17
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deleteShaghayegh T. Beheshti; Angad Jolly; Ahmed K. Saad; Haowei Du; Lauren E. Westerfield; Chloe Munderloh; Divya Kalra; Yifan Wu; Yi Chen; Marie-Claude Gingras; Shalini N. Jhangiani; Sarenur Yilmaz; Maha S. Zaki; Daniel G. Calame; Davut Pehlivan; Richard A. Gibbs; Richard A. Lewis; James R. Lupski; Jennifer E. Posey
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