JOHN BELMONT to Genotype
This is a "connection" page, showing publications JOHN BELMONT has written about Genotype.
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0.644
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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: 0.093
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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: 0.060
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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: 0.055
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Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). Eur J Hum Genet. 2009 Jun; 17(6):811-9.
Score: 0.052
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Array-based DNA diagnostics: let the revolution begin. Annu Rev Med. 2008; 59:113-29.
Score: 0.048
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.042
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SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.
Score: 0.040
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Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. Am J Med Genet A. 2003 Apr 30; 118A(3):260-6.
Score: 0.035
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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: 0.026
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Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. Philos Trans R Soc Lond B Biol Sci. 2016 12 19; 371(1710).
Score: 0.022
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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: 0.021
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Replicative mechanisms for CNV formation are error prone. Nat Genet. 2013 Nov; 45(11):1319-26.
Score: 0.018
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Integrative genomic analysis of the human immune response to influenza vaccination. Elife. 2013 Jul 16; 2:e00299.
Score: 0.018
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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci U S A. 2011 Feb 15; 108(7):2915-20.
Score: 0.015
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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: 0.013
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Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America. Hum Mutat. 2009 Jan; 30(1):69-78.
Score: 0.013
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Analysis of East Asia genetic substructure using genome-wide SNP arrays. PLoS One. 2008; 3(12):e3862.
Score: 0.013
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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: 0.012
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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: 0.012
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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: 0.011
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Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine. Hum Genet. 2005 Dec; 118(3-4):382-92.
Score: 0.010
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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: 0.010
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Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice. Proc Natl Acad Sci U S A. 1995 Apr 25; 92(9):3673-7.
Score: 0.005