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Genetics

D-Index
47
Citations
10185
World Ranking
4113
National Ranking
154

Overview

John S. Waye is affiliated with McMaster University in Canada. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with significant contributions in Genetics and Hematology.

The scientist's work focuses on topics including:

  • Hemoglobinopathies and Related Disorders
  • Genomics and Rare Diseases
  • Iron Metabolism and Disorders
  • Prenatal Screening and Diagnostics
  • Blood groups and transfusion
  • Genetics and Neurodevelopmental Disorders
  • Parvovirus B19 Infection Studies

Frequent co-authors include Barry Eng, Landry Nfonsam, Meredith Hanna, Lisa Nakamura, and L. R. Walker.

The scientist has published multiple papers in several specialized journals. Notable recent papers include:

  • Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel, 2021, Human Mutation
  • Outcomes of haemoglobin Bart's hydrops fetalis following intrauterine transfusion in Ontario, Canada, 2020, Archives of Disease in Childhood Fetal & Neonatal
  • Consensus statement for the perinatal management of patients with α thalassemia major, 2021, Blood Advances
  • Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G], 2020, Hemoglobin
  • Microcytosis in patients with haemoglobin C trait: is α-thalassaemia trait to blame?, 2020, British Journal of Haematology

Common publication venues for John S. Waye include:

  • Hemoglobin
  • Human Mutation
  • Archives of Disease in Childhood Fetal & Neonatal
  • Blood Advances
  • British Journal of Haematology

Best Publications

  • Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

    D. Barker;E. Wright;K. Nguyen;L. Cannon

  • Technical note: improved DNA extraction from ancient bones using silica-based spin columns

    Dongya Y. Yang;Barry Eng;John S. Waye;J. Christopher Dudar

  • Hierarchical order in chromosome-specific human alpha satellite DNA

    Huntington F. Willard;John S. Waye

  • Structure, organization, and sequence of alpha satellite DNA from human chromosome 17: evidence for evolution by unequal crossing-over and an ancestral pentamer repeat shared with the human X chromosome.

    J S Waye;H F Willard

  • Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons.

    Bruce Budowle;A. M. Giusti;J. S. Waye;F. S. Baechtel

  • Hydrops Fetalis Caused by α-Thalassemia: An Emerging Health Care Problem

    David H.K. Chui;John S. Waye

  • Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong : Implications for population screening

    Yu-Lung Lau;Li-Chong Chan;Yuk-Yin A. Chan;Shau-Yin Ha

  • Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome.

    J S Waye;S B England;H F Willard

  • Nucleotide sequence heterogeneity of alpha satellite repetitive DNA: a survey of alphoid sequences from different human chromosomes

    John S. Waye;Huntington F. Willard

  • A simple and sensitive method for quantifying human genomic DNA in forensic specimen extracts

    J. S. Waye;L. A. Presley;Bruce Budowle;G. G. Shutler

  • Chromosome-specific alpha satellite DNA: nucleotide sequence analysis of the 2.0 kilobasepair repeat from the human X chromosome.

    John S. Waye;Huntington F. Willard

  • Chromosome-specific subsets of human alpha satellite DNA: analysis of sequence divergence within and between chromosomal subsets and evidence for an ancestral pentameric repeat.

    Huntington F. Willard;John S. Waye

  • Human beta satellite DNA: genomic organization and sequence definition of a class of highly repetitive tandem DNA

    John S. Waye;Huntington F. Willard

  • Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

    Belinda Giardine;Joseph Borg;Joseph Borg;Douglas R Higgs;Kenneth R Peterson

  • Changes in the Epidemiology of Thalassemia in North America: A New Minority Disease

    Elliott P. Vichinsky;Eric A. MacKlin;John S. Waye;Fred Lorey

  • Chromosome-specific Alpha Satellite DNA: Isolation and Mapping of a Polymorphic Alphoid Repeat From Human Chromosome 10

    Peter Devilee;Tim Kievits;John S. Waye;Peter L. Pearson

  • Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps

    Huntington F. Willard;John S. Waye;Mark H. Skolnick;Charles E. Schwartz

  • Chromosome-specific alpha satellite DNA from human chromosome 1: hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA.

    John S. Waye;Sharon J. Durfy;Dan Pinkel;Susan Kenwrick

  • Organization and evolution of alpha satellite DNA from human chromosome 11

    John S. Waye;Leslie A. Creeper;Huntington F. Willard

  • Molecular analysis of a deletion polymorphism in alpha satellite of human chromosome 17: evidence for homologous unequal crossing-over and subsequent fixation

    John S. Waye;Huntington F. Willard

Frequent Co-Authors

David H.K. Chui
David H.K. Chui Boston University
Nancy F. Olivieri
Nancy F. Olivieri University of Toronto
Huntington F. Willard
Huntington F. Willard Duke University
Andrew D. Paterson
Andrew D. Paterson University of Toronto
Morris A. Blajchman
Morris A. Blajchman McMaster University
Mark Crowther
Mark Crowther McMaster University
Guillaume Paré
Guillaume Paré Population Health Research Institute
Johanna M. Rommens
Johanna M. Rommens University of Toronto
David Chitayat
David Chitayat University of Toronto
Swee Lay Thein
Swee Lay Thein King's College London

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