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Population sequencing data reveal a compendium of mutational processes in the human germ line.
Seplyarskiy VB, Soldatov RA, Koch E, McGinty RJ, Goldmann JM, Hernandez RD, Barnes K, Correa A, Burchard EG, Ellinor PT, McGarvey ST, Mitchell BD, Vasan RS, Redline S, Silverman E, Weiss ST, Arnett DK, Blangero J, Boerwinkle E, He J, Montgomery C, Rao DC, Rotter JI, Taylor KD, Brody JA, Chen YI, de las Fuentes L, Hwu CM, Rich SS, Manichaikul AW, Mychaleckyj JC, Palmer ND, Smith JA, Kardia SLR, Peyser PA, Bielak LF, O'Connor TD, Emery LS; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; Gilissen C, Wong WSW, Kharchenko PV, Sunyaev S. Seplyarskiy VB, et al. Among authors: rich ss. Science. 2021 Aug 27;373(6558):1030-1035. doi: 10.1126/science.aba7408. Epub 2021 Aug 12. Science. 2021. PMID: 34385354 Free PMC article.
A genome scan for fasting insulin and fasting glucose identifies a quantitative trait locus on chromosome 17p: the insulin resistance atherosclerosis study (IRAS) family study.
Rich SS, Bowden DW, Haffner SM, Norris JM, Saad MF, Mitchell BD, Rotter JI, Langefeld CD, Hedrick CC, Wagenknecht LE, Bergman RN; Insulin Resistance Atherosclerosis Study (IRAS) Family Study. Rich SS, et al. Diabetes. 2005 Jan;54(1):290-5. doi: 10.2337/diabetes.54.1.290. Diabetes. 2005. PMID: 15616041
Quantitative trait loci on chromosome 8q24 for pancreatic beta-cell function and 7q11 for insulin sensitivity in obese nondiabetic white and black families: evidence from genome-wide linkage scans in the NHLBI Hypertension Genetic Epidemiology Network (HyperGEN) study.
An P, Freedman BI, Rich SS, Mandel SA, Arnett DK, Myers RH, Chen YD, Hunt SC, Rao DC. An P, et al. Among authors: rich ss. Diabetes. 2006 Feb;55(2):551-8. doi: 10.2337/diabetes.55.02.06.db05-0714. Diabetes. 2006. PMID: 16443794
974 results