B
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.
Papers
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Journal ArticleDOI
Points to consider for laboratories reporting results from diagnostic genomic sequencing
Danya F. Vears,Danya F. Vears,Karine Sénécal,Angus John Clarke,Leigh Jackson,Anne-Marie Laberge,Luca Lovrečić,Amélie Piton,K.L.I. van Gassen,Helger G. Yntema,Bartha Maria Knoppers,Pascal Borry,Pascal Borry +12 more
TL;DR: An interdisciplinary working group considered the current guidelines, their own experiences, and data from a recent qualitative study to develop a set of points to consider for laboratories reporting results from diagnostic NGS.
Journal ArticleDOI
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19
Gundula Povysil,Guillaume Butler-Laporte,Ning Shang,Chen Wang,Atlas Khan,Manal Alaamery,Tomoko Nakanishi,Sirui Zhou,Vincenzo Forgetta,Robert Eveleigh,Mathieu Bourgey,Naveed Aziz,Steven J.M. Jones,Bartha Maria Knoppers,Stephen W. Scherer,Lisa J. Strug,Pierre Lepage,Jiannis Ragoussis,Guillaume Bourque,Jahad Alghamdi,Nora Aljawini,Nour Albes,Hani M. Al-Afghani,Bader Alghamdi,Mansour S Almutairi,Ebrahim Mahmoud,Leen Abu-Safieh,Hadeel El Bardisy,Fawz S. Al Harthi,Abdulraheem Alshareef,Bandar A. Suliman,Saleh A. Alqahtani,Abdulaziz Almalik,May Alrashed,Salam Massadeh,Vincent Mooser,Mark Lathrop,Mohamed Fawzy,Yaseen M. Arabi,Hamdi Mbarek,Chadi Saad,Wadha Al-Muftah,Junghyun Jung,Serghei Mangul,Radja Badji,Asma Al Thani,Said I. Ismail,Ali G. Gharavi,Malak Abedalthagafi,J. Brent Richards,David Goldstein,Krzysztof Kiryluk +51 more
TL;DR: In this article, rare predicted loss-of-function (pLOF) variants across 13 candidate genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe COVID-19 cases.
Posted Content
The Human Cell Atlas White Paper
Human Cell Atlas Meeting Participants,Aviv Regev,Sarah A. Teichmann,Orit Rozenblatt-Rosen,Michael J. T. Stubbington,Kristin G. Ardlie,Ido Amit,Paola Arlotta,Gary D. Bader,Christophe Benoist,Moshe Biton,Bernd Bodenmiller,Benoit Bruneau,Peter J. Campbell,Mary Carmichael,Piero Carninci,Leslie Castelo-Soccio,Menna R. Clatworthy,Hans Clevers,Christian Conrad,Roland Eils,Jeremy Freeman,Lars Fugger,Berthold Goettgens,Daniel B. Graham,Anna Greka,Nir Hacohen,Muzlifah Haniffa,Ingo Helbig,Robert O. Heuckeroth,Sekar Kathiresan,Seung K. Kim,Allon Klein,Bartha Maria Knoppers,Arnold R. Kriegstein,Eric S. Lander,Jane Lee,Ed S. Lein,Sten Linnarsson,Evan Macosko,Sonya A. MacParland,Robert Majovski,Partha P. Majumder,John C. Marioni,Ian D. McGilvray,Miriam Merad,Musa M. Mhlanga,Shalin H. Naik,Martijn C. Nawijn,Garry P. Nolan,Benedict Paten +50 more
TL;DR: The Human Cell Atlas will be made up of comprehensive reference maps of all human cells as a basis for understanding fundamental human biological processes and diagnosing, monitoring, and treating disease, and will help scientists understand how genetic variants impact disease risk, define drug toxicities, discover better therapies, and advance regenerative medicine.
Journal ArticleDOI
Status, sale and patenting of human genetic material: an international survey.
TL;DR: An overview of the international, regional and national positions on the status, commodification and patentability of human genetic material indicates that, although the Directive represents a consolidation of opinions, many issues remain unresolved.
Journal ArticleDOI
Data Sharing — Is the Juice Worth the Squeeze?
TL;DR: Making clinical trial data widely available is ethically imperative and scientifically justified, but the experience with clinicalstudydatarequest.com suggests that the authors need to find ways to improve the use and output of data-sharing projects before broadening the effort.