JOHN BELMONT to Male
This is a "connection" page, showing publications JOHN BELMONT has written about Male.
Connection Strength
0.711
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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: 0.027
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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: 0.024
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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: 0.024
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Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant. Am J Med Genet A. 2015 Nov; 167A(11):2742-7.
Score: 0.021
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Runs of homozygosity and parental relatedness. Genet Med. 2013 Sep; 15(9):753-4.
Score: 0.018
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Global gene expression profiling in infants with acute respiratory syncytial virus broncholitis demonstrates systemic activation of interferon signaling networks. Pediatr Infect Dis J. 2013 Feb; 32(2):e68-76.
Score: 0.018
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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: 0.017
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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: 0.015
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Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. Am J Hum Genet. 2010 Dec 10; 87(6):743-56.
Score: 0.015
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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: 0.015
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FBN1 mutations in patients with descending thoracic aortic dissections. Am J Med Genet A. 2010 Feb; 152A(2):413-6.
Score: 0.014
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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: 0.013
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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: 0.011
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Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001. Birth Defects Res A Clin Mol Teratol. 2005 Aug; 73(8):555-61.
Score: 0.010
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Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. Am J Med Genet A. 2005 Apr 15; 134A(2):180-6.
Score: 0.010
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SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.
Score: 0.010
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Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions. Pediatrics. 2004 Sep; 114(3):691-6.
Score: 0.010
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SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet. 2004 Jul; 41(7):e94.
Score: 0.010
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The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet. 2024 07 11; 111(7):1271-1281.
Score: 0.010
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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: 0.009
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Accuracy of analog telephonic stethoscopy for pediatric telecardiology. Pediatrics. 2003 Oct; 112(4):780-6.
Score: 0.009
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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr. 2021 12 01; 175(12):1218-1226.
Score: 0.008
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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: 0.007
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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: 0.007
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Edematous severe acute malnutrition is characterized by hypomethylation of DNA. Nat Commun. 2019 12 19; 10(1):5791.
Score: 0.007
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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: 0.007
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Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. Genet Med. 2019 07; 21(7):1652-1656.
Score: 0.007
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Estimating the burden and economic impact of pediatric genetic disease. Genet Med. 2019 08; 21(8):1781-1789.
Score: 0.007
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DNA methylation and obesity in survivors of pediatric acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study. Genes Chromosomes Cancer. 2019 01; 58(1):52-59.
Score: 0.007
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Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. Genet Med. 2019 05; 21(5):1121-1130.
Score: 0.007
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A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Eur J Hum Genet. 2018 09; 26(9):1294-1305.
Score: 0.006
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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 08 14; 9(1):73.
Score: 0.006
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.006
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An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a000984.
Score: 0.006
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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: 0.006
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Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene. Infect Dis Poverty. 2016 Nov 01; 5(1):97.
Score: 0.006
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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: 0.006
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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 06; 99(4):886-893.
Score: 0.006
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Multi-omic profiles of hepatic metabolism in TPN-fed preterm pigs administered new generation lipid emulsions. J Lipid Res. 2016 09; 57(9):1696-711.
Score: 0.006
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Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Res. 2016 09; 26(9):1170-7.
Score: 0.006
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.006
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Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet. 1996 Jun; 58(6):1101-8.
Score: 0.006
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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: 0.005
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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: 0.005
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Racial disparities in heterotaxy syndrome. Birth Defects Res A Clin Mol Teratol. 2015 Nov; 103(11):941-50.
Score: 0.005
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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet J Rare Dis. 2015 Jun 14; 10:75.
Score: 0.005
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Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections--A Prospective Cohort Study. PLoS Pathog. 2015 Jun; 11(6):e1004869.
Score: 0.005
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Serial fecal microbiota transplantation alters mucosal gene expression in pediatric ulcerative colitis. Am J Gastroenterol. 2015 Apr; 110(4):604-6.
Score: 0.005
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Insights into lymphocyte development from X-linked immune deficiencies. Trends Genet. 1995 Mar; 11(3):112-6.
Score: 0.005
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Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology. Am J Med Genet A. 2014 Oct; 164A(10):2581-91.
Score: 0.005
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Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. PLoS One. 2014; 9(4):e94390.
Score: 0.005
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Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. Am J Hum Genet. 1994 Jan; 54(1):25-35.
Score: 0.005
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Trinucleotide repeat polymorphism at DXS101. Hum Mol Genet. 1993 Sep; 2(9):1508.
Score: 0.005
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Integrative genomic analysis of the human immune response to influenza vaccination. Elife. 2013 Jul 16; 2:e00299.
Score: 0.005
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TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210.
Score: 0.005
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MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Hum Mol Genet. 2013 Nov 01; 22(21):4339-48.
Score: 0.005
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Rare APOA5 promoter variants associated with paradoxical HDL cholesterol decrease in response to fenofibric acid therapy. J Lipid Res. 2013 Jul; 54(7):1980-7.
Score: 0.004
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Antibody correlates and predictors of immunity to naturally occurring influenza in humans and the importance of antibody to the neuraminidase. J Infect Dis. 2013 Mar 15; 207(6):974-81.
Score: 0.004
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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992 Dec; 51(6):1229-39.
Score: 0.004
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Association between thyroxine levels at birth and choanal atresia or stenosis among infants in Texas, 2004-2007. Birth Defects Res A Clin Mol Teratol. 2012 Nov; 94(11):951-4.
Score: 0.004
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A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. Eur J Hum Genet. 2013 Apr; 21(4):474-7.
Score: 0.004
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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: 0.004
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Assessment of bone mineral status in children with Marfan syndrome. Am J Med Genet A. 2012 Sep; 158A(9):2221-4.
Score: 0.004
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Impact of restricted marital practices on genetic variation in an endogamous Gujarati group. Am J Phys Anthropol. 2012 Sep; 149(1):92-103.
Score: 0.004
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NPHP4 variants are associated with pleiotropic heart malformations. Circ Res. 2012 Jun 08; 110(12):1564-74.
Score: 0.004
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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: 0.004
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Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. 1993. J Immunol. 2012 Apr 01; 188(7):2936-47.
Score: 0.004
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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: 0.004
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Prior infections with seasonal influenza A/H1N1 virus reduced the illness severity and epidemic intensity of pandemic H1N1 influenza in healthy adults. Clin Infect Dis. 2012 Feb 01; 54(3):311-7.
Score: 0.004
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Leukemia inhibitory factor improves survival of retroviral vector-infected hematopoietic stem cells in vitro, allowing efficient long-term expression of vector-encoded human adenosine deaminase in vivo. J Exp Med. 1991 Oct 01; 174(4):837-45.
Score: 0.004
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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: 0.004
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Stimulation of retroviral vector infection of murine hematopoietic progenitors. Int J Cell Cloning. 1991 Sep; 9(5):491-502.
Score: 0.004
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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: 0.004
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Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion. Am J Med Genet A. 2011 Sep; 155A(9):2215-20.
Score: 0.004
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Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet. 2011 Jun; 7(6):e1002118.
Score: 0.004
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Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. Am J Med Genet A. 2011 Jul; 155A(7):1574-80.
Score: 0.004
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Left ventricular noncompaction in Sotos syndrome. Am J Med Genet A. 2011 May; 155A(5):1115-8.
Score: 0.004
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Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans. J Infect Dis. 2011 Apr 01; 203(7):921-9.
Score: 0.004
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
Score: 0.004
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Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab. 2011 Jun; 103(2):167-70.
Score: 0.004
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The use of TeleMedicine in the treatment of paediatric obesity: feasibility and acceptability. Matern Child Nutr. 2011 Jan; 7(1):71-9.
Score: 0.004
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Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH. Am J Med Genet A. 2011 Feb; 155A(2):434-8.
Score: 0.004
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Hyperammonemia and neonatal herpes simplex pneumonitis. Pediatr Infect Dis J. 1990 Oct; 9(10):749-50.
Score: 0.004
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.004
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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet. 2009 Oct; 17(10):1325-35.
Score: 0.003
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Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009 Mar 01; 18(5):861-71.
Score: 0.003
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71.
Score: 0.003
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20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75.
Score: 0.003
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NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet. 2008 Sep 15; 17(18):2886-93.
Score: 0.003
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Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A. 2008 Jun 01; 146A(11):1395-405.
Score: 0.003
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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet. 2008 Jan; 82(1):214-21.
Score: 0.003
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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: 0.003
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Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38.
Score: 0.003
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Two cases of severe lethal Smith-Lemli-Opitz syndrome. Am J Med Genet. 1987 Jan; 26(1):65-7.
Score: 0.003
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Heritability of plasma amino acid levels in different nutritional states. Mol Genet Metab. 2007 Feb; 90(2):217-20.
Score: 0.003
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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: 0.003
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Intraocular pressure alterations following intravitreal triamcinolone acetonide. Br J Ophthalmol. 2006 Aug; 90(8):999-1003.
Score: 0.003
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Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation. 2005 Nov 01; 112(18):2799-804.
Score: 0.003
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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: 0.003
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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31.
Score: 0.002
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X-linked Menkes disease: first documented report of germ-line mosaicism. Genet Test. 2004; 8(3):286-91.
Score: 0.002
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Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation. 2003 Nov 25; 108(21):2672-8.
Score: 0.002
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Omphalocele in trisomy 3q: further delineation of phenotype. Clin Genet. 2003 Nov; 64(5):404-13.
Score: 0.002
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Prevention of nonadherence to nonsteroidal anti-inflammatory medications for newly diagnosed patients with juvenile rheumatoid arthritis. Health Psychol. 2002 Nov; 21(6):620-3.
Score: 0.002
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PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. Hum Mutat. 2002 Oct; 20(4):298-304.
Score: 0.002
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Exclusion of PITX2 mutations as a major cause of CHARGE association. Am J Med Genet. 2002 Jul 22; 111(1):27-30.
Score: 0.002
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A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development. 2002 May; 129(9):2293-302.
Score: 0.002
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Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene. Hum Genet. 2001 Nov; 109(5):512-20.
Score: 0.002
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Divalent cations and cytochalasin B-sensitive processes in activation, synthesis, and release of mixed leukocyte reaction suppressor factor. Cell Immunol. 1981 Jul 01; 61(2):353-64.
Score: 0.002
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Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med. 2001 Jan 18; 344(3):182-8.
Score: 0.002
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Zinc-induced anemia and neutropenia in an adolescent. J Pediatr. 2000 May; 136(5):688-90.
Score: 0.002
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Physiology of mixed leukocyte reaction suppressor factor. I. Role of cytoskeleton and protein synthesis in production and secretion. J Immunol. 1979 Mar; 122(3):1022-8.
Score: 0.002
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Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. Prenat Diagn. 1999 Feb; 19(2):108-12.
Score: 0.002
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Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing. J Med Genet. 1998 Aug; 35(8):646-9.
Score: 0.002
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DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Hum Mutat. 1998; 11(2):121-6.
Score: 0.002
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A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. J Clin Invest. 1996 Jan 01; 97(1):196-201.
Score: 0.001
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Parental origin of the extra chromosomes in polysomy X. Hum Genet. 1994 Oct; 94(4):423-6.
Score: 0.001
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Aqueous tube-shunt implantation and pars plana vitrectomy in eyes with refractory glaucoma. Am J Ophthalmol. 1993 Aug 15; 116(2):189-95.
Score: 0.001
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Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22. Genomics. 1993 Feb; 15(2):342-9.
Score: 0.001
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Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings. Acta Neuropathol. 1993; 85(4):394-9.
Score: 0.001
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Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. Genomics. 1992 Mar; 12(3):596-600.
Score: 0.001
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Gene transfer of adenosine deaminase into primitive human hematopoietic progenitor cells. Hum Gene Ther. 1991; 2(3):203-13.
Score: 0.001