World's Best Scientists 2026 revealed!
Bartha Maria Knoppers

Bartha Maria Knoppers

D-Index & Metrics

Social Sciences and Humanities

D-Index
77
Citations
64688
World Ranking
446
National Ranking
26

Research.com Recognitions

  • 2015 - Fellow of the Royal Society of Canada Academy of Social Sciences
  • 2001 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

Bartha Maria Knoppers is affiliated with the McGill University Health Centre in Canada. Their research spans multiple disciplines primarily within Medicine and Biochemistry, Genetics and Molecular Biology, with a strong focus on Public Health, Environmental and Occupational Health, Genetics, Physiology, Pediatrics, Perinatology and Child Health, and Oncology.

The scientist has contributed extensively to the fields of Ethics in Clinical Research, Biomedical Ethics and Regulation, BRCA gene mutations in cancer, Genomics and Rare Diseases, Ethics and Legal Issues in Pediatric Healthcare, Global Cancer Incidence and Screening, and Cancer Genomics and Diagnostics.

Recent publications include the following:

  • Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps, 2021, Nature Medicine
  • Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I), 2021, Journal of Personalized Medicine
  • Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19, 2021, Journal of Clinical Investigation
  • Return of individual research results from genomic research: A systematic review of stakeholder perspectives, 2021, PLoS ONE
  • Women's Views on Multifactorial Breast Cancer Risk Assessment and Risk-Stratified Screening: A Population-Based Survey from Four Provinces in Canada, 2021, Journal of Personalized Medicine

Frequent co-authors include:

  • Ma'n H. Zawati
  • Yann Joly
  • Alexander Bernier
  • Michael J. S. Beauvais
  • Jacques Simard

Major publication venues where Bartha Maria Knoppers has contributed include:

  • Frontiers in Genetics
  • Journal of Personalized Medicine
  • European Journal of Human Genetics
  • Genetics in Medicine
  • Zenodo (CERN European Organization for Nuclear Research)

Their work has been recognized through awards such as Fellow of the Royal Society of Canada in 2015 by the Academy of Social Sciences and Fellow of the American Association for the Advancement of Science (AAAS) in 2001.

Best Publications

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • 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

  • International network of cancer genome projects

    Thomas J. Hudson;Thomas J. Hudson;Warwick Anderson;Axel Aretz;Anna D. Barker

  • Mapping copy number variation by population-scale genome sequencing

    Ryan E. Mills;Klaudia Walter;Chip Stewart;Robert E. Handsaker

  • A global reference for human genetic variation

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

    Ryan K C Yuen;Daniele Merico;Matt Bookman;Jennifer L. Howe

  • Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.

    Carla G van El;Martina C Cornel;Pascal Borry;Ros J Hastings

  • A map of human genome variation from population-scale sequencing

    Richard M. Durbin;David L. Altshuler;Gonçalo R. Abecasis;David R. Bentley

  • Managing incidental findings and research results in genomic research involving biobanks and archived data sets.

    Susan M Wolf;Brittney N. Crock;Brian G Van Ness;Frances P Lawrenz

  • International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

    Kym M. Boycott;Ana Rath;Jessica X. Chong;Taila Hartley

  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

    Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  • Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

    Adebowale Adeyemo;Mary K. Balaconis;Deanna R. Darnes

  • Human genetic research: emerging trends in ethics.

    Ruth Chadwick;Bartha Maria Knoppers

  • Trends in ethical and legal frameworks for the use of human biobanks.

    A. Cambon-Thomsen;E. Rial-Sebbag;B. M. Knoppers

  • Framework for responsible sharing of genomic and health-related data

    Bartha Maria Knoppers

  • Recommendations for returning genomic incidental findings? We need to talk!

    Wylie Burke;Armand H. Matheny Antommaria;Robin Bennett;Jeffrey Botkin

  • The emergence of an ethical duty to disclose genetic research results: international perspectives.

    Bartha Maria Knoppers;Yann Joly;Jacques Simard;Francine Durocher

Frequent Co-Authors

Pascal Borry
Pascal Borry KU Leuven
Jane Kaye
Jane Kaye University of Oxford
Heidi L. Rehm
Heidi L. Rehm Brigham and Women's Hospital
Kym M. Boycott
Kym M. Boycott Children's Hospital of Eastern Ontario
Thomas J. Hudson
Thomas J. Hudson Ontario Institute for Cancer Research
Ellen Wright Clayton
Ellen Wright Clayton Vanderbilt University Medical Center
Timothy Caulfield
Timothy Caulfield University of Alberta
David Haussler
David Haussler University of California, Santa Cruz
huanming yang
huanming yang Beijing Genomics Institute
Richard A. Gibbs
Richard A. Gibbs Baylor College of Medicine

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