JOHN BELMONT to Polymorphism, Single Nucleotide
This is a "connection" page, showing publications JOHN BELMONT has written about Polymorphism, Single Nucleotide.
Connection Strength
1.266
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Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects. Birth Defects Res A Clin Mol Teratol. 2011 Mar; 91(3):162-8.
Score: 0.182
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SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.
Score: 0.121
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Genetic variation in the body mass index of adult survivors of childhood acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study and the St. Jude Lifetime Cohort. Cancer. 2021 01 15; 127(2):310-318.
Score: 0.089
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Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Am J Med Genet A. 2017 Aug; 173(8):2176-2188.
Score: 0.071
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.070
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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81.
Score: 0.051
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Interaction between SNPs in the RXRA and near ANGPTL3 gene region inhibits apoB reduction after statin-fenofibric acid therapy in individuals with mixed dyslipidemia. J Lipid Res. 2012 Nov; 53(11):2425-8.
Score: 0.051
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Variants in the APOA5 gene region and the response to combination therapy with statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia. Atherosclerosis. 2011 Dec; 219(2):737-42.
Score: 0.047
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Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections. Am J Med Genet A. 2010 Sep; 152A(9):2399-405.
Score: 0.044
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Assessing the utility of whole-genome amplified serum DNA for array-based high throughput genotyping. BMC Genet. 2009 Dec 18; 10:85.
Score: 0.042
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Analysis of East Asia genetic substructure using genome-wide SNP arrays. PLoS One. 2008; 3(12):e3862.
Score: 0.039
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A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007 Oct 18; 449(7164):851-61.
Score: 0.036
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A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping. Am J Hum Genet. 2007 Jun; 80(6):1014-23.
Score: 0.035
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Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection. J Infect Dis. 2005 Nov 15; 192(10):1741-8.
Score: 0.032
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Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay. Genome Res. 2005 Feb; 15(2):269-75.
Score: 0.030
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Genome-wide linkage disequilibrium and haplotype maps. Am J Pharmacogenomics. 2004; 4(4):253-62.
Score: 0.028
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Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet. 2004 Jan; 74(1):93-105.
Score: 0.028
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Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet. 2022 09; 30(9):1017-1021.
Score: 0.025
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.020
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Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy. Genet Med. 2019 11; 21(11):2453-2461.
Score: 0.020
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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479.
Score: 0.020
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A genome-wide association study of LCH identifies a variant in SMAD6 associated with susceptibility. Blood. 2017 11 16; 130(20):2229-2232.
Score: 0.018
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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420.
Score: 0.017
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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 06 01; 25(11):2331-2341.
Score: 0.016
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Integrative genomic analysis of the human immune response to influenza vaccination. Elife. 2013 Jul 16; 2:e00299.
Score: 0.013
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
Score: 0.012
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LPL gene variants affect apoC-III response to combination therapy of statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia. J Lipid Res. 2012 Mar; 53(3):556-560.
Score: 0.012
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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 2011 Oct 02; 43(11):1074-81.
Score: 0.012
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SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2011 Sep 21; 12(9):R91.
Score: 0.012
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Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet. 2011 Sep 11; 43(10):996-1000.
Score: 0.012
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An ancestry informative marker set for determining continental origin: validation and extension using human genome diversity panels. BMC Genet. 2009 Jul 24; 10:39.
Score: 0.010
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Amerindian ancestry in Argentina is associated with increased risk for systemic lupus erythematosus. Genes Immun. 2008 Jun; 9(4):389-93.
Score: 0.009
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Genome-wide detection and characterization of positive selection in human populations. Nature. 2007 Oct 18; 449(7164):913-8.
Score: 0.009
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High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res. 2006 Sep; 16(9):1136-48.
Score: 0.008
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European population substructure: clustering of northern and southern populations. PLoS Genet. 2006 Sep 15; 2(9):e143.
Score: 0.008
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Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005 Sep; 1(3):e41.
Score: 0.008
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Mexican American ancestry-informative markers: examination of population structure and marker characteristics in European Americans, Mexican Americans, Amerindians and Asians. Hum Genet. 2004 Feb; 114(3):263-71.
Score: 0.007