World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
94
Citations
52634
World Ranking
919
National Ranking
456

Medicine

D-Index
95
Citations
53387
World Ranking
9863
National Ranking
5070

Overview

John W. Belmont is affiliated with Baylor College of Medicine in the United States. Their research spans key areas within Biochemistry, Genetics and Molecular Biology, and Medicine, with a particular focus on Genetics, Pathology and Forensic Medicine, Molecular Biology, Cardiology and Cardiovascular Medicine, and Pulmonary and Respiratory Medicine.

The scientist's work predominantly addresses topics such as Genomics and Rare Diseases, Genetic factors in colorectal cancer, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, BRCA gene mutations in cancer, Congenital heart defects research, and Genetic Associations and Epidemiology.

Frequent publication venues for John W. Belmont include:

  • npj Genomic Medicine
  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine Open
  • JAMA Pediatrics

Recent papers from the scientist include:

  • Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease (2021, JAMA Pediatrics)
  • Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease (2020, npj Genomic Medicine)
  • Best practices for the interpretation and reporting of clinical whole genome sequencing (2022, npj Genomic Medicine)
  • Recommendations for whole genome sequencing in diagnostics for rare diseases (2022, European Journal of Human Genetics)
  • Centers for Mendelian Genomics: A decade of facilitating gene discovery (2022, Genetics in Medicine)

John W. Belmont has collaborated frequently with a number of co-authors, including:

  • Ryan J. Taft
  • Denise Perry
  • Vaidehi Jobanputra
  • David Bick
  • Alka Malhotra

Best Publications

  • The International HapMap Project

    John W. Belmont;Paul Hardenbol;Thomas D. Willis;Fuli Yu

  • A haplotype map of the human genome

    John W. Belmont;Andrew Boudreau;Suzanne M. Leal;Paul Hardenbol

  • A second generation human haplotype map of over 3.1 million SNPs

    Kelly A. Frazer;Dennis G. Ballinger;David R. Cox;David A. Hinds

  • Genome-wide detection and characterization of positive selection in human populations

    Pardis C. Sabeti;Pardis C. Sabeti;Patrick Varilly;Patrick Varilly;Ben Fry;Jason Lohmueller

  • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

    R. C. Allen;H. Y. Zoghbi;A. B. Moseley;Howard Rosenblatt

  • The 2017 international classification of the Ehlers-Danlos syndromes

    Fransiska Malfait;Clair Francomano;Peter H Byers;John Belmont

  • Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

    Satoshi Tsukada;Douglas C. Saffran;David J. Rawlings;Ornella Parolini;Ornella Parolini

  • CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome

    R. Cutler Allen;Richard J. Armitage;Mary Ellen Conley;Howard Rosenblatt

  • Clinical Characterization of Left Ventricular Noncompaction in Children A Relatively Common Form of Cardiomyopathy

    Ricardo H. Pignatelli;Colin J. McMahon;William J. Dreyer;Susan W. Denfield

  • Enzyme-replacement therapy in mucopolysaccharidosis I.

    Emil D. Kakkis;Joseph Muenzer;George E. Tiller;Lewis Waber

  • Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

    Jeffrey R. Botkin;John W. Belmont;Jonathan Sanford Berg;Benjamin E. Berkman

  • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

    Nicola Brunetti-Pierri;Jonathan S. Berg;Fernando Scaglia;John Belmont

  • Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America

    Roman Kosoy;Rami Nassir;Chao Tian;Phoebe A. White

  • High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

    Daniel A. Peiffer;Jennie M. Le;Frank J. Steemers;Weihua Chang

  • Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

    Marwan Shinawi;Pengfei Liu;Sung Hae L Kang;Joseph Shen

  • Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients with Mitochondrial Disease

    Fernando Scaglia;Jeffrey A Towbin;Jeffrey A Towbin;William J Craigen;William J Craigen;John W Belmont;John W Belmont

  • Highly multiplexed molecular inversion probe genotyping: Over 10,000 targeted SNPs genotyped in a single tube assay

    Paul Hardenbol;Fuli Yu;John Belmont;Jennifer MacKenzie

  • Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

    Seema R. Lalani;Arsalan M. Safiullah;Susan D. Fernbach;Karine C. Harutyunyan

  • Clan Genomics and the Complex Architecture of Human Disease

    James R. Lupski;James R. Lupski;John W. Belmont;Eric Boerwinkle;Eric Boerwinkle;Richard A. Gibbs

  • Erratum: Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents (The American Journal of Human Genetics (2015) 97 (6-21))

    Jeffrey R. Botkin;John W. Belmont;Jonathan S. Berg;Benjamin E. Berkman

Frequent Co-Authors

James R. Lupski
James R. Lupski Baylor College of Medicine
Seema R. Lalani
Seema R. Lalani Baylor College of Medicine
Richard A. Gibbs
Richard A. Gibbs Baylor College of Medicine
jeffrey a towbin
jeffrey a towbin St. Jude Children's Research Hospital
Donna M. Muzny
Donna M. Muzny Baylor College of Medicine
William J. Craigen
William J. Craigen Baylor College of Medicine
Chad A. Shaw
Chad A. Shaw Baylor College of Medicine
Carlos A. Bacino
Carlos A. Bacino Baylor College of Medicine
Eric Boerwinkle
Eric Boerwinkle The University of Texas Health Science Center at Houston
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine

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