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HGG Advances|June 11, 2025
Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneityGeorgia Mies, Noah L Tsao, Alexandre Houy, et al.The Journal of Clinical Endocrinology and Metabolism|August 3, 2012
Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomasPaul J Newey, M Andrew Nesbit, Andrew J Rimmer, et al.Genome Research|December 2, 2016
A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigreeMichael A Eberle, Epameinondas Fritzilas, Peter Krusche, et al.Elife|June 5, 2019
Genetic diversity of CHC22 clathrin impacts its function in glucose metabolismMatteo Fumagalli, Stephane M Camus, Yoan Diekmann, et al.Nature Communications|June 27, 2017
Structural and regulatory diversity shape HLA-C protein expression levelsGurman Kaur, Stephanie Gras, Jesse I Mobbs, et al.Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.Nature|October 12, 2018
The UK Biobank resource with deep phenotyping and genomic dataClare Bycroft, Colin Freeman, Desislava Petkova, et al.Nature Genetics|December 11, 2012
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3M Andrew Nesbit, Fadil M Hannan, Sarah A Howles, et al.American Journal of Human Genetics|January 17, 2024
A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergyAmanda Y Chong, Nicole Brenner, Andres Jimenez-Kaufmann, et al.Plos One|September 18, 2024
A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) ReleaseDeborah J Thompson, Daniel Wells, Saskia Selzam, et al.Pageof 16