Co-Authors
This is a "connection" page, showing publications co-authored by ERIC BOERWINKLE and RICHARD GIBBS.
Connection Strength
7.360
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Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications. Genet Med. 2021 12; 23(12):2404-2414.
Score: 0.207
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muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 Mar 24.
Score: 0.202
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A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.183
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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: 0.176
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Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study. Genetics. 2018 06; 209(2):607-616.
Score: 0.164
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Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet. 2017 02 02; 100(2):205-215.
Score: 0.151
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Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 11 24; 17(1):237.
Score: 0.150
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Loss-of-function variants influence the human serum metabolome. Sci Adv. 2016 08; 2(8):e1600800.
Score: 0.147
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WGSA: an annotation pipeline for human genome sequencing studies. J Med Genet. 2016 Feb; 53(2):111-2.
Score: 0.138
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Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med. 2015; 7(1):54.
Score: 0.135
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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: 0.134
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Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 Apr 11; 16:286.
Score: 0.134
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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions. PLoS One. 2015; 10(3):e0121644.
Score: 0.133
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PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics. 2015 Mar 19; 16:214.
Score: 0.133
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Coronary heart disease and genetic variants with low phospholipase A2 activity. N Engl J Med. 2015 Jan 15; 372(3):295-6.
Score: 0.132
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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: 0.125
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Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics. 2014 Jan 29; 15:30.
Score: 0.123
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Clan genomics and the complex architecture of human disease. Cell. 2011 Sep 30; 147(1):32-43.
Score: 0.105
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 Apr 03; 16(1):53.
Score: 0.062
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Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 Mar 03; 17(1):62.
Score: 0.062
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Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study. Am J Hum Genet. 2023 10 05; 110(10):1704-1717.
Score: 0.060
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Genetic Sex Validation for Sample Tracking in Clinical Testing. Res Sq. 2023 Sep 11.
Score: 0.060
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Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. Genetics. 2023 08 09; 224(4).
Score: 0.060
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Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study. medRxiv. 2023 Jun 29.
Score: 0.059
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The genomic landscape of familial glioma. Sci Adv. 2023 04 28; 9(17):eade2675.
Score: 0.058
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Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program. Circ Genom Precis Med. 2023 04; 16(2):e003532.
Score: 0.058
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Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease. Hum Mol Genet. 2023 03 06; 32(6):1048-1060.
Score: 0.058
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Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease. JAMA Cardiol. 2023 03 01; 8(3):258-267.
Score: 0.058
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Structural variation across 138,134 samples in the TOPMed consortium. Res Sq. 2023 Feb 03.
Score: 0.057
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Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. bioRxiv. 2023 Jan 31.
Score: 0.057
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Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv. 2023 Jan 25.
Score: 0.057
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xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 Dec 28; 12.
Score: 0.057
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Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study. Circ Genom Precis Med. 2022 12; 15(6):e003605.
Score: 0.056
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Whole genome sequence analysis of blood lipid levels in >66,000 individuals. Nat Commun. 2022 10 11; 13(1):5995.
Score: 0.056
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Rare Variants in Genes Encoding Subunits of the Epithelial Na+ Channel Are Associated With Blood Pressure and Kidney Function. Hypertension. 2022 11; 79(11):2573-2582.
Score: 0.056
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Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease. Nat Commun. 2022 09 12; 13(1):5350.
Score: 0.056
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Whole-exome sequencing of 14?389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors. Hum Mol Genet. 2022 09 10; 31(18):3120-3132.
Score: 0.056
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Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study. Genet Med. 2022 05; 24(5):1062-1072.
Score: 0.054
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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: 0.053
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Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst. 2021 07 01; 113(7):875-883.
Score: 0.051
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Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 04 12; 12(1):2182.
Score: 0.051
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 02; 590(7845):290-299.
Score: 0.050
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Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
Score: 0.050
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Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2020 Aug; 25(8):1901-1903.
Score: 0.048
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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 05; 7(5):610-627.
Score: 0.047
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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.
Score: 0.047
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Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol). Int J Epidemiol. 2020 02 01; 49(1):23-24k.
Score: 0.047
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Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). JBMR Plus. 2020 Mar; 4(3):e10335.
Score: 0.047
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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: 0.046
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Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing. PLoS One. 2019; 14(6):e0218115.
Score: 0.045
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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: 0.045
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Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study. Sci Rep. 2019 04 11; 9(1):5941.
Score: 0.044
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Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Hum Mol Genet. 2019 04 01; 28(7):1212-1224.
Score: 0.044
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Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812.
Score: 0.043
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Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 04; 27(4):563-573.
Score: 0.043
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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2020 08; 25(8):1859-1875.
Score: 0.042
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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 Sep; 137(9):689-703.
Score: 0.042
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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: 0.042
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The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet. 2018 06 15; 27(12):2064-2075.
Score: 0.042
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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: 0.041
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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: 0.041
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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.
Score: 0.041
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Lipoprotein-associated phospholipase A2 and risk of incident peripheral arterial disease: Findings from The Atherosclerosis Risk in Communities study (ARIC). Atherosclerosis. 2018 01; 268:12-18.
Score: 0.040
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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med. 2017 10 31; 9(1):95.
Score: 0.040
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Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nat Genet. 2017 10 27; 49(11):1560-1563.
Score: 0.040
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Creating a data resource: what will it take to build a medical information commons? Genome Med. 2017 09 22; 9(1):84.
Score: 0.040
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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: 0.039
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Prevalence of spinocerebellar ataxia 36 in a US population. Neurol Genet. 2017 Aug; 3(4):e174.
Score: 0.039
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.038
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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: 0.038
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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: 0.038
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.038
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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: 0.037
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
Score: 0.037
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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: 0.037
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A hybrid computational strategy to address WGS variant analysis in >5000 samples. BMC Bioinformatics. 2016 Sep 10; 17(1):361.
Score: 0.037
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Whole Exome Sequencing in Atrial Fibrillation. PLoS Genet. 2016 09; 12(9):e1006284.
Score: 0.037
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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 09 01; 99(3):785.
Score: 0.037
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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: 0.037
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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: 0.037
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.037
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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.
Score: 0.036
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PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol. 2016 07; 60:83-7.
Score: 0.036
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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.
Score: 0.036
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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7:10713.
Score: 0.035
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Association of the IGF1 gene with fasting insulin levels. Eur J Hum Genet. 2016 08; 24(9):1337-43.
Score: 0.035
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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: 0.035
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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest. 2016 Feb; 126(2):762-78.
Score: 0.035
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POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.035
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Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 Jan; 73(1):68-75.
Score: 0.035
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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat. 2016 Mar; 37(3):231-234.
Score: 0.035
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Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016 Feb; 9(1):64-70.
Score: 0.035
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.035
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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 04; 88(3):499-513.
Score: 0.035
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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 Aug 18; 12(7):1169-83.
Score: 0.034
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 Aug 06; 97(2):199-215.
Score: 0.034
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Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2015 Aug; 8(4):544-52.
Score: 0.034
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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun; 47(6):654-60.
Score: 0.033
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Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 May; 100(5):E808-14.
Score: 0.033
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FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6.
Score: 0.033
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New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 Feb; 133(2):133-9.
Score: 0.033
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Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015 Jan 29; 6:5897.
Score: 0.033
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51.
Score: 0.033
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Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease. Circ Cardiovasc Genet. 2015 Apr; 8(2):351-5.
Score: 0.033
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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: 0.033
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Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med. 2014 Nov 27; 371(22):2072-82.
Score: 0.032
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.032
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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: 0.032
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.
Score: 0.032
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Sequence analysis of six blood pressure candidate regions in 4,178 individuals: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. PLoS One. 2014; 9(10):e109155.
Score: 0.032
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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214.
Score: 0.032
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Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Hum Mol Genet. 2015 Jan 15; 24(2):559-71.
Score: 0.032
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Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. PLoS One. 2014; 9(8):e104452.
Score: 0.032
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A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 Sep; 46(9):944-50.
Score: 0.032
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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: 0.032
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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.
Score: 0.032
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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 Jul 03; 95(1):96-107.
Score: 0.032
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New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 Nov 01; 23(21):5774-80.
Score: 0.032
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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.
Score: 0.032
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Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):359-64.
Score: 0.032
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Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Circ Cardiovasc Genet. 2014 Jun; 7(3):365-73.
Score: 0.032
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Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):374-382.
Score: 0.032
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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: 0.031
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Neutral genomic regions refine models of recent rapid human population growth. Proc Natl Acad Sci U S A. 2014 Jan 14; 111(2):757-62.
Score: 0.031
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Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8.
Score: 0.030
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Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study. Heart Rhythm. 2014 Mar; 11(3):452-7.
Score: 0.030
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Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes. 2014 May; 15(3):252-6.
Score: 0.030
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Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. Nat Genet. 2013 Aug; 45(8):899-901.
Score: 0.029
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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 Apr; 9(4):e1003443.
Score: 0.029
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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 Jan 23; 77(2):235-42.
Score: 0.029
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The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A. 2012 Jul; 158A(7):1523-5.
Score: 0.027
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Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 Apr 04; 485(7397):242-5.
Score: 0.027
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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 Sep 01; 20(17):3366-75.
Score: 0.026
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Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun. 2010 Nov 30; 1:131.
Score: 0.025