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Connection

ERIC BOERWINKLE to Genetic Association Studies

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This is a "connection" page, showing publications ERIC BOERWINKLE has written about Genetic Association Studies.
ERIC BOERWINKLE
Connection Strength
2.971
Genetic Association Studies
  1. Rare variants analysis using penalization methods for whole genome sequence data. BMC Bioinformatics. 2015 Dec 04; 16:405.
    View in: PubMed
    Score: 0.357
  2. Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program. Genome Med. 2021 08 26; 13(1):136.
    View in: PubMed
    Score: 0.133
  3. A catalog of genetic loci associated with kidney function from analyses of a million individuals. Nat Genet. 2019 06; 51(6):957-972.
    View in: PubMed
    Score: 0.114
  4. ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies. Am J Hum Genet. 2019 03 07; 104(3):410-421.
    View in: PubMed
    Score: 0.112
  5. Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies. Am J Hum Genet. 2019 02 07; 104(2):260-274.
    View in: PubMed
    Score: 0.111
  6. Targeted sequencing identifies a missense variant in the BEST3 gene associated with antihypertensive response to hydrochlorothiazide. Pharmacogenet Genomics. 2018 11; 28(11):251-255.
    View in: PubMed
    Score: 0.109
  7. 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.
    View in: PubMed
    Score: 0.105
  8. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 04; 176(4):1015-1022.
    View in: PubMed
    Score: 0.104
  9. Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet. 2017 Dec; 49(12):1758-1766.
    View in: PubMed
    Score: 0.102
  10. Relations between lipoprotein(a) concentrations, LPA genetic variants, and the risk of mortality in patients with established coronary heart disease: a molecular and genetic association study. Lancet Diabetes Endocrinol. 2017 07; 5(7):534-543.
    View in: PubMed
    Score: 0.099
  11. On Robust Association Testing for Quantitative Traits and Rare Variants. G3 (Bethesda). 2016 12 07; 6(12):3941-3950.
    View in: PubMed
    Score: 0.096
  12. Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. Am J Hum Genet. 2016 09 01; 99(3):762-769.
    View in: PubMed
    Score: 0.094
  13. Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease. Nat Genet. 2015 Jun; 47(6):640-2.
    View in: PubMed
    Score: 0.086
  14. Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study. PLoS One. 2014; 9(12):e113203.
    View in: PubMed
    Score: 0.084
  15. Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium. PLoS One. 2014; 9(6):e99798.
    View in: PubMed
    Score: 0.081
  16. Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. J Hum Genet. 2013 Jul; 58(7):461-6.
    View in: PubMed
    Score: 0.074
  17. Effects of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studies. Circ Res. 2013 Jan 18; 112(2):318-26.
    View in: PubMed
    Score: 0.072
  18. Comprehensive evaluation of imputation performance in African Americans. J Hum Genet. 2012 Jul; 57(7):411-21.
    View in: PubMed
    Score: 0.070
  19. dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat. 2011 Aug; 32(8):894-9.
    View in: PubMed
    Score: 0.066
  20. Candidate gene association resource (CARe): design, methods, and proof of concept. Circ Cardiovasc Genet. 2010 Jun; 3(3):267-75.
    View in: PubMed
    Score: 0.060
  21. Genome-wide association study of blood pressure and hypertension. Nat Genet. 2009 Jun; 41(6):677-87.
    View in: PubMed
    Score: 0.057
  22. A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels. Blood. 2024 05 02; 143(18):1845-1855.
    View in: PubMed
    Score: 0.040
  23. X-linked genetic associations in sporadic thoracic aortic dissection. Am J Med Genet A. 2024 09; 194(9):e63644.
    View in: PubMed
    Score: 0.040
  24. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 04 12; 12(1):2182.
    View in: PubMed
    Score: 0.032
  25. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 06; 182(6):1387-1399.
    View in: PubMed
    Score: 0.030
  26. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2):487-501.
    View in: PubMed
    Score: 0.029
  27. Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Hum Mol Genet. 2019 04 01; 28(7):1212-1224.
    View in: PubMed
    Score: 0.028
  28. A prospective study of serum metabolites and risk of ischemic stroke. Neurology. 2019 04 16; 92(16):e1890-e1898.
    View in: PubMed
    Score: 0.028
  29. Associations between SLC16A11 variants and diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Sci Rep. 2019 01 29; 9(1):843.
    View in: PubMed
    Score: 0.028
  30. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 04; 27(4):563-573.
    View in: PubMed
    Score: 0.028
  31. Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Hum Mol Genet. 2017 09 01; 26(17):3442-3450.
    View in: PubMed
    Score: 0.025
  32. Whole Exome Sequencing in Atrial Fibrillation. PLoS Genet. 2016 09; 12(9):e1006284.
    View in: PubMed
    Score: 0.023
  33. Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study. Circ Cardiovasc Genet. 2016 Aug; 9(4):368-74.
    View in: PubMed
    Score: 0.023
  34. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.
    View in: PubMed
    Score: 0.023
  35. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570.
    View in: PubMed
    Score: 0.023
  36. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 04; 88(3):499-513.
    View in: PubMed
    Score: 0.022
  37. Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Blood. 2015 Sep 10; 126(11):e19-29.
    View in: PubMed
    Score: 0.022
  38. Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study. BMC Genet. 2015 May 29; 16:56.
    View in: PubMed
    Score: 0.022
  39. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun; 47(6):654-60.
    View in: PubMed
    Score: 0.021
  40. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics. 2015 Mar 19; 16:214.
    View in: PubMed
    Score: 0.021
  41. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6.
    View in: PubMed
    Score: 0.021
  42. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015 Jan 29; 6:5897.
    View in: PubMed
    Score: 0.021
  43. A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study. Hum Mol Genet. 2015 Apr 15; 24(8):2401-8.
    View in: PubMed
    Score: 0.021
  44. Pathway analysis with next-generation sequencing data. Eur J Hum Genet. 2015 Apr; 23(4):507-15.
    View in: PubMed
    Score: 0.020
  45. Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):344-9.
    View in: PubMed
    Score: 0.020
  46. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014 Feb 06; 94(2):223-32.
    View in: PubMed
    Score: 0.020
  47. Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida. Birth Defects Res A Clin Mol Teratol. 2013 Sep; 97(9):597-601.
    View in: PubMed
    Score: 0.019
  48. Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers. Arch Gen Psychiatry. 2012 Aug; 69(8):854-60.
    View in: PubMed
    Score: 0.018
  49. Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. PLoS One. 2012; 7(5):e36473.
    View in: PubMed
    Score: 0.017
  50. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012 Jul 06; 337(6090):64-9.
    View in: PubMed
    Score: 0.017
  51. Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study. Pharmacogenet Genomics. 2012 May; 22(5):355-66.
    View in: PubMed
    Score: 0.017
  52. Effects of genetic variation in H3K79 methylation regulatory genes on clinical blood pressure and blood pressure response to hydrochlorothiazide. J Transl Med. 2012 Mar 22; 10:56.
    View in: PubMed
    Score: 0.017
  53. A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains. PLoS Genet. 2011 Oct; 7(10):e1002322.
    View in: PubMed
    Score: 0.017
  54. Polymorphisms in genes coding for GRK2 and GRK5 and response differences in antihypertensive-treated patients. Pharmacogenet Genomics. 2011 Jan; 21(1):42-9.
    View in: PubMed
    Score: 0.016
  55. Impact of repeated measures and sample selection on genome-wide association studies of fasting glucose. Genet Epidemiol. 2010 Nov; 34(7):665-73.
    View in: PubMed
    Score: 0.016
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.