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Exercise Intolerance and Low Cardiac Filling Pressures in a Woman With a Novel eNOS Mutation.

McGarrity S, Ziehr DR, Austin-Tse CA, Wein MN, Chivukula RR, Oldham WM. Exercise Intolerance and Low Cardiac Filling Pressures in a Woman With a Novel eNOS Mutation. Circulation. Genomic and precision medicine. 2024:e004741. doi:10.1161/CIRCGEN.124.004741

Updated recommendation for the benign stand-alone ACMG/AMP criterion.

Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG, ClinGen Sequence Variant Interpretation Working Group. Updated recommendation for the benign stand-alone ACMG/AMP criterion. Hum Mutat. 2018;39(11):1525-1530. doi:10.1002/humu.23642

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018;39(11):1593-1613. doi:10.1002/humu.23630

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.

Mahajan A, Taliun D, Thurner M, et al. Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nat Genet. 2018;50(11):1505-1513. doi:10.1038/s41588-018-0241-6

Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes.

Westra HJ, Martínez-Bonet M, Onengut-Gumuscu S, et al. Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes. Nat Genet. 2018;50(10):1366-1374. doi:10.1038/s41588-018-0216-7

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

Pulit SL, Stoneman C, Morris AP, et al. Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. Hum Mol Genet. 2019;28(1):166-174. doi:10.1093/hmg/ddy327

Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation.

Strawbridge RJ, Silveira A, Hoed M den, et al. Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation. Atherosclerosis. 2017;266:196-204. doi:10.1016/j.atherosclerosis.2017.09.031

The promise of discovering population-specific disease-associated genes in South Asia.

Nakatsuka N, Moorjani P, Rai N, et al. The promise of discovering population-specific disease-associated genes in South Asia. Nat Genet. 2017;49(9):1403-1407. doi:10.1038/ng.3917

Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.

Xue Y, Mezzavilla M, Haber M, et al. Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations. Nat Commun. 2017;8:15927. doi:10.1038/ncomms15927

Whole-genome association study of bipolar disorder.

Sklar P, Smoller JW, Fan J, et al. Whole-genome association study of bipolar disorder. Mol Psychiatry. 2008;13(6):558-69. doi:10.1038/sj.mp.4002151