ERIC BOERWINKLE to DNA Copy Number Variations
This is a "connection" page, showing publications ERIC BOERWINKLE has written about DNA Copy Number Variations.
Connection Strength
1.616
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Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet. 2022 Jan; 141(1):127-146.
Score: 0.134
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Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs. Genome Med. 2020 09 28; 12(1):84.
Score: 0.123
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Mitochondrial DNA Copy Number and Incident Heart Failure: The Atherosclerosis Risk in Communities (ARIC) Study. Circulation. 2020 06 02; 141(22):1823-1825.
Score: 0.121
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 07 03; 105(1):132-150.
Score: 0.113
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.111
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Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 08; 26(8):1121-1131.
Score: 0.104
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Association between mitochondrial DNA copy number and sudden cardiac death: findings from the Atherosclerosis Risk in Communities study (ARIC). Eur Heart J. 2017 Dec 07; 38(46):3443-3448.
Score: 0.102
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.097
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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648.
Score: 0.096
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Genome-Wide Association of Copy Number Polymorphisms and Kidney Function. PLoS One. 2017; 12(1):e0170815.
Score: 0.096
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Association between Mitochondrial DNA Copy Number in Peripheral Blood and Incident CKD in the Atherosclerosis Risk in Communities Study. J Am Soc Nephrol. 2016 08; 27(8):2467-73.
Score: 0.089
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Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations. BMC Genet. 2014 Jul 09; 15:81.
Score: 0.080
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Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. BMC Med Genomics. 2024 10 24; 17(1):255.
Score: 0.041
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Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk. J Am Heart Assoc. 2023 10 17; 12(20):e029090.
Score: 0.038
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Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts. Neurology. 2023 05 02; 100(18):e1930-e1943.
Score: 0.037
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Epigenome-wide association study of mitochondrial genome copy number. Hum Mol Genet. 2021 12 27; 31(2):309-319.
Score: 0.034
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133.
Score: 0.031
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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2):487-501.
Score: 0.029
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
Score: 0.023
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Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. Am J Hum Genet. 2016 09 01; 99(3):762-769.
Score: 0.023
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Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 07 19; 9(1):42.
Score: 0.023
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.023
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Resequencing and clinical associations of the 9p21.3 region: a comprehensive investigation in the Framingham heart study. Circulation. 2013 Feb 19; 127(7):799-810.
Score: 0.018
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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet. 2010 Dec; 42(12):1077-85.
Score: 0.016
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New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010 Feb; 42(2):105-16.
Score: 0.015