JOHN BELMONT to Adolescent
This is a "connection" page, showing publications JOHN BELMONT has written about Adolescent.
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0.379
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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: 0.040
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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: 0.024
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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: 0.018
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SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.
Score: 0.017
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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: 0.016
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Accuracy of analog telephonic stethoscopy for pediatric telecardiology. Pediatrics. 2003 Oct; 112(4):780-6.
Score: 0.016
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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: 0.012
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Edematous severe acute malnutrition is characterized by hypomethylation of DNA. Nat Commun. 2019 12 19; 10(1):5791.
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: 0.011
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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: 0.011
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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: 0.011
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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: 0.010
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Water Load Test in Children with Chronic Abdominal Pain or Obesity Compared with Nonobese Controls. South Med J. 2017 03; 110(3):168-171.
Score: 0.010
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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: 0.010
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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: 0.010
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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: 0.009
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.009
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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: 0.009
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Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet. 2015 Jul 02; 97(1):6-21.
Score: 0.009
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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: 0.009
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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: 0.009
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Integrative genomic analysis of the human immune response to influenza vaccination. Elife. 2013 Jul 16; 2:e00299.
Score: 0.008
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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: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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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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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: 0.007
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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: 0.006
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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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Intraocular pressure alterations following intravitreal triamcinolone acetonide. Br J Ophthalmol. 2006 Aug; 90(8):999-1003.
Score: 0.005
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Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation. 2005 Nov 01; 112(18):2799-804.
Score: 0.004
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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31.
Score: 0.004
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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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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: 0.003
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Zinc-induced anemia and neutropenia in an adolescent. J Pediatr. 2000 May; 136(5):688-90.
Score: 0.003
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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: 0.002