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Human Molecular Genetics|June 9, 2016
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathyElizabeth E Palmer, Kelsey E Jarrett, Rani K Sachdev, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2013
Implementing genomic medicine in the clinic: the future is hereTeri A Manolio, Rex L Chisholm, Brad Ozenberger, et al.
The Lancet. Diabetes & Endocrinology|April 15, 2017
Apolipoprotein(a) isoform size, lipoprotein(a) concentration, and coronary artery disease: a mendelian randomisation analysisDanish Saleheen, Philip C Haycock, Wei Zhao, et al.
JHEP Reports : Innovation in Hepatology|December 11, 2023
A missense variant in human perilipin 2 (PLIN2 Ser251Pro) reduces hepatic steatosis in miceEleonora Scorletti, Yedidya Saiman, Sookyoung Jeon, et al.
Circulation|May 24, 2019
N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor ExpressionMarjolein A W van den Boogert, Lars E Larsen, Lubna Ali, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|September 18, 2010
Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcificationHaiqing Shen, Lawrence F Bielak, Jane F Ferguson, et al.
Circulation|February 21, 2023
Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran ProgramAeron M Small, Gina M Peloso, Jason Linefsky, et al.
Atherosclerosis|September 6, 2019
Longitudinal low density lipoprotein cholesterol goal achievement and cardiovascular outcomes among adult patients with familial hypercholesterolemia: The CASCADE FH registryP Barton Duell, Samuel S Gidding, Rolf L Andersen, et al.
The Journal of Clinical Investigation|July 2, 2010
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 functionSebastian Zeissig, Stephanie K Dougan, Duarte C Barral, et al.
Journal of the American College of Cardiology|June 6, 2020
Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery DiseaseKrishna G Aragam, Amanda Dobbyn, Renae Judy, et al.
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