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Author Details

John W Belmont
Baylor College of Medicine
1979
256
67
PMIDPaper TitleJournal TitlePublished Year
37019579Genetic Epidemiology Highlights the Role of Aortic Strain and Distensibility in Cardiovascular Disease.J Am Coll Cardiol2023
34906478Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases.Genet Med2022
35577938Recommendations for whole genome sequencing in diagnostics for rare diseases.Eur J Hum Genet2022
35395838Best practices for the interpretation and reporting of clinical whole genome sequencing.NPJ Genom Med2022
36286267Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome.J Cardiovasc Dev Dis2022
35129608Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants-Reply.JAMA Pediatr2022
33048379Genetic 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.Cancer2021
34811359The diagnostic trajectory of infants and children with clinical features of genetic disease.NPJ Genom Med2021
34570182Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.JAMA Pediatr2021
32460895The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.Genome Med2020
33110627Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.NPJ Genom Med2020
33319814Clinical utility of genomic sequencing: a measurement toolkit.NPJ Genom Med2020
32233023Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.Am J Med Genet A2020
30382603DNA methylation and obesity in survivors of pediatric acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study.Genes Chromosomes Cancer2019
31857576Edematous severe acute malnutrition is characterized by hypomethylation of DNA.Nat Commun2019
30760893Correction: Estimating the burden and economic impact of pediatric genetic disease.Genet Med2019
31023718Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.J Med Genet2019
30992551Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy.Genet Med2019
30622330Genetic architecture of laterality defects revealed by whole exome sequencing.Eur J Hum Genet2019
30569621Recurrent 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 A2019
30568310Estimating the burden and economic impact of pediatric genetic disease.Genet Med2019
29748569A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.Eur J Hum Genet2018
30349862Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in females.Ann Clin Transl Neurol2018
27577878Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.J Allergy Clin Immunol2017
28299356An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a <i>TUBB3</i> mutation.Cold Spring Harb Mol Case Stud2017
28327206Lessons learned from additional research analyses of unsolved clinical exome cases.Genome Med2017
28935696A genome-wide association study of LCH identifies a variant in <i>SMAD6</i> associated with susceptibility.Blood2017
28973083Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.JAMA Pediatr2017
29089047Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.Genome Med2017
28807008Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.Genome Med2017
28653806Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.Am J Med Genet A2017
27980096Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Nucleic Acids Res2017
27657687Whole-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 Med2017
26810587Toward clinical genomics in everyday medicine: perspectives and recommendations.Expert Rev Mol Diagn2016
27821535Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.Philos Trans R Soc Lond B Biol Sci2016
27616478Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.Am J Hum Genet2016
27715336Clinical bioinformatics: emergence of a new laboratory discipline.Expert Rev Mol Diagn2016
27799062Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene.Infect Dis Poverty2016
27171546Recommendations for the integration of genomics into clinical practice.Genet Med2016
27474222Multi-omic profiles of hepatic metabolism in TPN-fed preterm pigs administered new generation lipid emulsions.J Lipid Res2016
27412853The ethics of conducting molecular autopsies in cases of sudden death in the young.Genome Res2016
27435932Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.Genome Res2016
27576045Correction: Integrative genomic analysis of the human immune response to influenza vaccination.Elife2016
26942288Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.Am J Hum Genet2016
26965164A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.Hum Mol Genet2016
27103661Gene Expression Profiling Identifies Cell Proliferation and Inflammation as the Predominant Pathways Regulated by Aryl Hydrocarbon Receptor in Primary Human Fetal Lung Cells Exposed to Hyperoxia.Toxicol Sci2016
25853207Serial fecal microbiota transplantation alters mucosal gene expression in pediatric ulcerative colitis.Am J Gastroenterol2015
26333177Racial disparities in heterotaxy syndrome.Birth Defects Res A Clin Mol Teratol2015
26070612De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.Orphanet J Rare Dis2015
26070066Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections--A Prospective Cohort Study.PLoS Pathog2015
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Collaborators

University of Tennessee Health Science Center
Co-authored papers 32
Baylor College of Medicine
Co-authored papers 29
Baylor College of Medicine
Co-authored papers 29
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Baylor College of Medicine
Co-authored papers 19
Center for Statistical Genetics, Columbia University Medical Center
Co-authored papers 13
Baylor College of Medicine.
Co-authored papers 13
University of Tennessee Health Sciences Centre
Co-authored papers 13
Co-authored papers 12
Baylor College of Medicine
Co-authored papers 11
Co-authored papers 11
Baylor College of Medicine
Co-authored papers 11
Baylor College of Medicine
Co-authored papers 9
University of California davis
Co-authored papers 9
Baylor College of Medicine
Co-authored papers 9
Co-authored papers 8
Baylor College of Medicine
Co-authored papers 8
Baylor College of Medicine
Co-authored papers 8
Baylor College of Medicine
Co-authored papers 8
Co-authored papers 7
Co-authored papers 6
Institute of Computer Science, Warsaw University of Technology
Co-authored papers 5
Genomics England Ltd.
Co-authored papers 5
Indiana University School of Medicine
Co-authored papers 5
Cook Children's Hospital
Co-authored papers 5
East China University of Science and Technology
Co-authored papers 5
Co-authored papers 5
Baylor College of Medicine
Co-authored papers 5
The Hospital for Sick Children
Co-authored papers 4
Rady Children's Institute for Genomic Medicine
Co-authored papers 4