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Bartha Maria Knoppers

McGill University Health Centre · CA
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Area of research
Public Health, Environmental and Occupational Health · Genetics
Research interest
Research interests include Ethics in Clinical Research, Biomedical Ethics and Regulation, Genomics and Rare Diseases, and BRCA gene mutations in cancer.
h-index
79
citations
46,359
works
717
NIH funding
primary concept
Medicine
email

Recent publications

Genomic sequencing in newborn screening: balancing consent with the right of the asymptomatic at-risk child to be found
European Journal of Human Genetics 2024cited by 22position: firstdoi
The commitment of the human cell atlas to humanity
Nature Communications 2024cited by 18position: middledoi
Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory
European Journal of Human Genetics 2023cited by 23position: middledoi
Mitochondrial Replacement Therapy: In Whose Interests?
The Journal of Law Medicine & Ethics 2022cited by 14position: middledoi
Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention
Current Oncology 2022cited by 11position: middledoi
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
Nature Medicine 2021cited by 435position: middledoi
Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I)
Journal of Personalized Medicine 2021cited by 131position: middledoi
Return of individual research results from genomic research: A systematic review of stakeholder perspectives
PLoS ONE 2021cited by 76position: middledoi
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19
Journal of Clinical Investigation 2021cited by 70position: middledoi
Toward better governance of human genomic data
Nature Genetics 2021cited by 63position: middledoi
Model consent clauses for rare disease research
BMC Medical Ethics 2019cited by 30position: lastdoi
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
PLoS Genetics 2018cited by 207position: middledoi
Epigenome-based cancer risk prediction: rationale, opportunities and challenges
Nature Reviews Clinical Oncology 2018cited by 171position: middledoi
Consent recommendations for research and international data sharing involving persons with dementia
Alzheimer s & Dementia 2018cited by 94position: middledoi
Key Implications of Data Sharing in Pediatric Genomics
JAMA Pediatrics 2018cited by 49position: middledoi
Registered access: authorizing data access
European Journal of Human Genetics 2018cited by 48position: middledoi
The Genomic Commons
Annual Review of Genomics and Human Genetics 2018cited by 46position: lastdoi
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Nature Neuroscience 2017cited by 933position: middledoi
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
The American Journal of Human Genetics 2017cited by 448position: middledoi
Ethics, big data and computing in epidemiology and public health
Annals of Epidemiology 2017cited by 88position: middledoi
Points to consider for laboratories reporting results from diagnostic genomic sequencing
European Journal of Human Genetics 2017cited by 72position: middledoi
Creating a data resource: what will it take to build a medical information commons?
Genome Medicine 2017cited by 44position: middledoi
Mitochondrial Replacement Therapy: The Road to the Clinic in Canada
Journal of Obstetrics and Gynaecology Canada 2017cited by 11position: firstdoi
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
The American Journal of Human Genetics 2016cited by 164position: middledoi
Ethics review for international data-intensive research
Science 2016cited by 56position: lastdoi
Registered access: a ‘Triple-A’ approach
European Journal of Human Genetics 2016cited by 38position: lastdoi
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
Journal of Medical Genetics 2015cited by 234position: middledoi
CRISPR germline engineering—the community speaks
Nature Biotechnology 2015cited by 142position: middledoi
Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes
European Journal of Human Genetics 2015cited by 112position: middledoi
From the principles of genomic data sharing to the practices of data access committees
EMBO Molecular Medicine 2015cited by 67position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

Pascal Borry · KU Leuven8 papers (2013–2023)Mahsa Shabani · KU Leuven6 papers (2015–2023)Martina C. Cornel · London School of Hygiene & Tropical Medicine5 papers (2013–2018)Karine Sénécal · KU Leuven4 papers (2014–2018)Sharon F. Terry · Twitter (United States)4 papers (2012–2021)Heidi Howard · University of Southampton3 papers (2013–2015)Adrian Thorogood · Terry Fox Research Institute3 papers (2016–2021)Anne Cambon‐Thomsen · Centre National de la Recherche Scientifique3 papers (2013–2014)Jan M. Friedman · University of British Columbia3 papers (2014–2018)Eric M. Meslin · London School of Hygiene & Tropical Medicine3 papers (2014–2021) · 3 papers (2015–2024)Danya F. Vears · KU Leuven3 papers (2017–2021)Nora Pashayan · MRC Epidemiology Unit2 papers (2018–2022)Yann Joly · McGill University Health Centre2 papers (2018–2022) · 2 papers (2012–2014)Forough Noohi · University of Chicago2 papers (2017–2022)Jantina de Vries · University of Cape Town2 papers (2016–2021)Jacek Majewski · McGill University Health Centre2 papers (2014–2015)Hans Scheffer · Radboud University Nijmegen2 papers (2013–2013)Jane Kaye · Centre for Human Genetics2 papers (2012–2021)
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