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Bartha Maria Knoppers
Researcher at McGill University
Publications - 516
Citations - 54285
Bartha Maria Knoppers is an academic researcher from McGill University. The author has contributed to research in topics: Biobank & Population. The author has an hindex of 63, co-authored 491 publications receiving 44965 citations. Previous affiliations of Bartha Maria Knoppers include Catholic University of the Sacred Heart & University of Alberta.
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Journal ArticleDOI
Mitochondrial Replacement Therapy: In Whose Interests?
TL;DR: In 2019, Australia became the second country with a clear regulatory path for the clinical applications of mitochondrial replacement therapy (MRT) in 2019 and the United Kingdom became the first country to approve MRT in 2019 as discussed by the authors .
Posted Content
Recommendations for Returning Genomic Incidental Findings? We Need to Talk!
Wylie Burke,Armand H. Matheny Antommaria,Robin L. Bennett,Jeffrey R. Botkin,Ellen Wright Clayton,Ellen Wright Clayton,Gail E. Henderson,Ingrid A. Holm,Gail P. Jarvik,Muin J. Khoury,Bartha Maria Knoppers,Nancy Press,Lainie Friedman Ross,Mark A. Rothstein,Howard M. Saal,Wendy R. Uhlmann,Benjamin S. Wilfond,Susan M. Wolf,Ron Zimmern +18 more
TL;DR: The American College of Medical Genetics and Genomics recently issued recommendations for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing as discussed by the authors, which constitute a call for opportunistic screening, through intentional effort to identify pathogenic variants in specified genes unrelated to the clinical concern that prompted testing.
Posted Content
The Clinical Application of Genome-Wide Sequencing for Monogenic Diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
Kym M. Boycott,Taila Hartley,Shelin Adam,Francois P. Bernier,Karen Chong,Bridget A. Fernandez,Jan M. Friedman,Michael T. Geraghty,Stacey Hume,Bartha Maria Knoppers,Anne-Marie Laberge,Jacek Majewski,Roberto Mendoza-Londono,M. Stephen Meyn,Jacques L. Michaud,Tanya N. Nelson,Julie Richer,Bekim Sadikovic,David Skidmore,Tracy Stockley,Sherry Taylor,Clara D.M. van Karnebeek,Ma'n H. Zawati,Julie Lauzon,Christine M. Armour +24 more
TL;DR: In this paper, the authors provide recommendations for Canadian medical geneticists, clinical laboratory geneticists and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis.
Book ChapterDOI
Conclusion: lessons for companies and future issues
David Finegold,Cécile M. Bensimon,Abdallah S. Daar,Margaret L. Eaton,Béatrice Godard,Bartha Maria Knoppers,Jocelyn E. Mackie,Peter Singer +7 more
TL;DR: In this paper, the authors present a conclusion that ethical issues can be an inherent part of doing business in the bioscience sector, and that organizations must keep pace by enhancing their own ethical decision-making abilities.
Biobancos y estudios longitudinales: ¿dónde están los niños?
TL;DR: In this article, a lineamiento específicos for biobancos and estudios longitudinales that include a participación of niños are presented.