ERIC BOERWINKLE to Mutation, Missense
This is a "connection" page, showing publications ERIC BOERWINKLE has written about Mutation, Missense.
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0.608
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Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study. Circ Cardiovasc Genet. 2016 Aug; 9(4):368-74.
Score: 0.087
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Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. PLoS One. 2014; 9(8):e104452.
Score: 0.076
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Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24; 157(3):636-50.
Score: 0.075
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The peroxisome proliferator-activated receptor-gamma2 gene polymorphism (Pro12Ala) beneficially influences insulin resistance and its tracking from childhood to adulthood: the Bogalusa Heart Study. Diabetes. 2003 May; 52(5):1265-9.
Score: 0.035
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The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 04 28; 9(17):eabm4945.
Score: 0.035
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Genome-Wide Meta-Analysis of Blood Pressure Response to ?1-Blockers: Results From ICAPS (International Consortium of Antihypertensive Pharmacogenomics Studies). J Am Heart Assoc. 2019 08 20; 8(16):e013115.
Score: 0.027
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PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. Nat Commun. 2018 07 25; 9(1):2904.
Score: 0.025
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Genome-Wide Association Study of Serum Fructosamine and Glycated Albumin in Adults Without Diagnosed Diabetes: Results From the Atherosclerosis Risk in Communities Study. Diabetes. 2018 08; 67(8):1684-1696.
Score: 0.025
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Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction. Circ Genom Precis Med. 2018 05; 11(5):e001663.
Score: 0.025
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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res. 2018 Jan; 97(1):49-59.
Score: 0.024
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ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. J Am Coll Cardiol. 2017 Apr 25; 69(16):2054-2063.
Score: 0.023
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Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel ?-subunit in a case of early-onset phenotype of Liddle syndrome. Cold Spring Harb Mol Case Stud. 2016 11; 2(6):a001255.
Score: 0.022
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Rare coding variants and X-linked loci associated with age at menarche. Nat Commun. 2015 Aug 04; 6:7756.
Score: 0.020
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Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study. PLoS One. 2015; 10(6):e0128452.
Score: 0.020
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Pharmacogenomics of hypertension: a genome-wide, placebo-controlled cross-over study, using four classes of antihypertensive drugs. J Am Heart Assoc. 2015 Jan 26; 4(1):e001521.
Score: 0.020
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Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. Blood. 2013 Jul 25; 122(4):590-7.
Score: 0.018
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Genetic variation associated with circulating monocyte count in the eMERGE Network. Hum Mol Genet. 2013 May 15; 22(10):2119-27.
Score: 0.017
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CUBN is a gene locus for albuminuria. J Am Soc Nephrol. 2011 Mar; 22(3):555-70.
Score: 0.015
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Relation of PCSK9 mutations to serum low-density lipoprotein cholesterol in childhood and adulthood (from The Bogalusa Heart Study). Am J Cardiol. 2007 Jul 01; 100(1):69-72.
Score: 0.012
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High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: practice, problems and promise. Hum Mutat. 2001 Apr; 17(4):296-304.
Score: 0.008