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American Journal of Human Genetics|June 18, 2021
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylationDaniel L Polla, Andrew C Edmondson, Sandrine Duvet, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 17, 2022
Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infectionChao Zhang, Anurag Verma, Yuanqing Feng, et al.
JAMA|December 11, 2019
Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino AncestryScott M Damrauer, Kumardeep Chaudhary, Judy H Cho, et al.
Cell Stem Cell|April 8, 2017
Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated LociEvanthia E Pashos, YoSon Park, Xiao Wang, et al.
Nature Genetics|October 13, 2009
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortiumNicole Soranzo, Tim D Spector, Massimo Mangino, et al.
Plos Genetics|March 23, 2011
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traitsElizabeth K Speliotes, Laura M Yerges-Armstrong, Jun Wu, et al.
Diabetes|August 6, 2008
Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrationsMarju Orho-Melander, Olle Melander, Candace Guiducci, et al.
Diabetes|June 16, 2012
Impact of common variation in bone-related genes on type 2 diabetes and related traitsLiana K Billings, Yi-Hsiang Hsu, Rachel J Ackerman, et al.
Nature|August 6, 2010
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locusKiran Musunuru, Alanna Strong, Maria Frank-Kamenetsky, et al.
Nature Genetics|November 12, 2005
A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarctionAnna Helgadottir, Andrei Manolescu, Agnar Helgason, et al.
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