JOHN BELMONT to Child, Preschool
This is a "connection" page, showing publications JOHN BELMONT has written about Child, Preschool.
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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: 0.045
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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: 0.020
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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: 0.019
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SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.
Score: 0.019
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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: 0.018
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Accuracy of analog telephonic stethoscopy for pediatric telecardiology. Pediatrics. 2003 Oct; 112(4):780-6.
Score: 0.017
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Edematous severe acute malnutrition is characterized by hypomethylation of DNA. Nat Commun. 2019 12 19; 10(1):5791.
Score: 0.013
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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: 0.012
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Estimating the burden and economic impact of pediatric genetic disease. Genet Med. 2019 08; 21(8):1781-1789.
Score: 0.012
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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: 0.012
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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: 0.012
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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: 0.012
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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: 0.012
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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: 0.011
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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: 0.011
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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: 0.011
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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: 0.011
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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: 0.011
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.011
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The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 09; 26(9):1165-9.
Score: 0.011
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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: 0.010
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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: 0.010
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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: 0.009
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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: 0.008
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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: 0.008
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Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy. Am J Med Genet A. 2011 Dec; 155A(12):3025-9.
Score: 0.008
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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: 0.007
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Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab. 2011 Jun; 103(2):167-70.
Score: 0.007
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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: 0.007
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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: 0.006
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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: 0.006
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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: 0.006
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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: 0.006
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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31.
Score: 0.005
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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: 0.004
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Predictors of prosthesis survival, growth, and functional status following mechanical mitral valve replacement in children aged <5 years, a multi-institutional study. Circulation. 2003 Sep 09; 108 Suppl 1:II174-9.
Score: 0.004
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Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol. 2003 Sep; 54(3):398-402.
Score: 0.004
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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: 0.004
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Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med. 2001 Jan 18; 344(3):182-8.
Score: 0.004
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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: 0.003
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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: 0.003
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Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23. Am J Med Genet. 1995 Mar 13; 56(1):16-21.
Score: 0.002
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Basal ganglia calcifications in a case of biotinidase deficiency. Neurology. 1988 Aug; 38(8):1326-8.
Score: 0.002