ERIC BOERWINKLE to Exome
This is a "connection" page, showing publications ERIC BOERWINKLE has written about Exome.
Connection Strength
4.706
-
Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. PLoS One. 2013; 8(7):e68095.
Score: 0.280
-
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 01 06; 109(1):81-96.
Score: 0.126
-
Exome sequence association study of levels and longitudinal change of cardiovascular risk factor phenotypes in European Americans and African Americans from the Atherosclerosis Risk in Communities Study. Genet Epidemiol. 2021 09; 45(6):651-663.
Score: 0.121
-
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2):487-501.
Score: 0.109
-
Exome sequencing of 20,791?cases of type 2 diabetes and 24,440?controls. Nature. 2019 06; 570(7759):71-76.
Score: 0.105
-
Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data. Hum Genet. 2019 Feb; 138(2):199-210.
Score: 0.103
-
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels. Nat Commun. 2018 10 12; 9(1):4228.
Score: 0.101
-
Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging. Stroke. 2018 08; 49(8):1812-1819.
Score: 0.099
-
Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 08; 26(8):1121-1131.
Score: 0.098
-
Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet. 2017 Dec; 49(12):1758-1766.
Score: 0.094
-
Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation. Thromb Haemost. 2017 06 02; 117(6):1083-1092.
Score: 0.090
-
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: 0.090
-
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. J Am Soc Nephrol. 2017 Mar; 28(3):981-994.
Score: 0.089
-
Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis. Circ Cardiovasc Genet. 2016 Dec; 9(6):511-520.
Score: 0.088
-
Whole Exome Sequencing in Atrial Fibrillation. PLoS Genet. 2016 09; 12(9):e1006284.
Score: 0.087
-
Loss-of-function variants influence the human serum metabolome. Sci Adv. 2016 08; 2(8):e1600800.
Score: 0.087
-
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 08 04; 99(2):481-8.
Score: 0.087
-
An exome array study of the plasma metabolome. Nat Commun. 2016 07 25; 7:12360.
Score: 0.086
-
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: 0.086
-
Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study. Circ Cardiovasc Genet. 2016 Aug; 9(4):368-74.
Score: 0.086
-
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. Am J Hum Genet. 2016 Jul 07; 99(1):8-21.
Score: 0.086
-
Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. Am J Hum Genet. 2016 Jul 07; 99(1):40-55.
Score: 0.086
-
Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. Am J Hum Genet. 2016 Jul 07; 99(1):22-39.
Score: 0.086
-
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest. 2016 Feb; 126(2):762-78.
Score: 0.083
-
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs. Hum Mutat. 2016 Mar; 37(3):235-41.
Score: 0.083
-
Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 Jan; 73(1):68-75.
Score: 0.083
-
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat. 2016 Mar; 37(3):231-234.
Score: 0.083
-
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016 Feb; 9(1):64-70.
Score: 0.083
-
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 Aug 18; 12(7):1169-83.
Score: 0.081
-
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.
Score: 0.079
-
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015 Jan 29; 6:5897.
Score: 0.078
-
Coronary heart disease and genetic variants with low phospholipase A2 activity. N Engl J Med. 2015 Jan 15; 372(3):295-6.
Score: 0.078
-
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51.
Score: 0.078
-
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet. 2015 Apr 15; 24(8):2125-37.
Score: 0.078
-
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015 Feb 05; 518(7537):102-6.
Score: 0.077
-
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.077
-
Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia. PLoS One. 2014; 9(10):e110740.
Score: 0.077
-
Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Hum Mol Genet. 2015 Jan 15; 24(2):559-71.
Score: 0.076
-
Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans. Hum Mol Genet. 2014 Dec 15; 23(24):6607-15.
Score: 0.075
-
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 Sep; 164A(9):2328-34.
Score: 0.075
-
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet. 2014 Feb 06; 94(2):233-45.
Score: 0.073
-
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat. 2013 Sep; 34(9):E2393-402.
Score: 0.070
-
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 Apr; 9(4):e1003443.
Score: 0.069
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012 Jul 06; 337(6090):64-9.
Score: 0.065
-
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach. Am J Hum Genet. 2025 07 03; 112(7):1664-1680.
Score: 0.040
-
Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels. Commun Biol. 2022 04 08; 5(1):336.
Score: 0.032
-
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 06 09; 12(1):3505.
Score: 0.030
-
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133.
Score: 0.029
-
Efficient gene-environment interaction tests for large biobank-scale sequencing studies. Genet Epidemiol. 2020 11; 44(8):908-923.
Score: 0.029
-
A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.027
-
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nat Genet. 2019 03; 51(3):452-469.
Score: 0.026
-
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 08 02; 103(2):171-187.
Score: 0.025
-
Remnant-Like Particle Cholesterol, Low-Density Lipoprotein Triglycerides, and Incident Cardiovascular Disease. J Am Coll Cardiol. 2018 07 10; 72(2):156-169.
Score: 0.025
-
Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Hum Mol Genet. 2017 09 01; 26(17):3442-3450.
Score: 0.023
-
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017 09; 49(9):1373-1384.
Score: 0.023
-
Whole exome sequence-based association analyses of plasma amyloid-? in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study. PLoS One. 2017; 12(7):e0180046.
Score: 0.023
-
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.023
-
On Robust Association Testing for Quantitative Traits and Rare Variants. G3 (Bethesda). 2016 12 07; 6(12):3941-3950.
Score: 0.022
-
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.022
-
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
-
Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 Oct; 12(10):e1006327.
Score: 0.022
-
Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. Nat Genet. 2016 10; 48(10):1162-70.
Score: 0.022
-
Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. Am J Hum Genet. 2016 09 01; 99(3):762-769.
Score: 0.022
-
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57.
Score: 0.021
-
POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.021
-
Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.021
-
Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2015 Aug; 8(4):544-52.
Score: 0.020
-
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 May; 100(5):E808-14.
Score: 0.020
-
FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6.
Score: 0.020
-
A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 Sep; 46(9):944-50.
Score: 0.019
-
Pathway analysis with next-generation sequencing data. Eur J Hum Genet. 2015 Apr; 23(4):507-15.
Score: 0.019
-
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med. 2014 Jul 03; 371(1):22-31.
Score: 0.019
-
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9.
Score: 0.019
-
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: 0.017
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 Apr 04; 485(7397):242-5.
Score: 0.016