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Author Details

Stacey Hume
University of British Colombia
2010
24
10
Vardit Ravitsky (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37606479Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.Int J Neonatal Screen2023
35260547Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19.Transl Psychiatry2022
33875564Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.J Med Genet2022
32826605Identification of high-impact gene-drug pairs for pharmacogenetic testing in Alberta, Canada.Pharmacogenet Genomics2021
36340216Retrospective testing of respiratory specimens for COVID-19 to assess for earlier SARS-CoV-2 infections in Alberta, Canada.J Assoc Med Microbiol Infect Dis Can2021
34811360Methodology for clinical genotyping of CYP2D6 and CYP2C19.Transl Psychiatry2021
32980267MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.Mol Genet Metab2020
31192304Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease.Neurol Genet2019
33072996Newborn Screening: Current Status in Alberta, Canada.Int J Neonatal Screen2019
31300550CCMG practice guideline: laboratory guidelines for next-generation sequencing.J Med Genet2019
31299140The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.Hum Mutat2019
28726806Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).Genet Med2018
30361042Plasma-derived cell-free mitochondrial DNA: A novel non-invasive methodology to identify mitochondrial DNA haplogroups in humans.Mol Genet Metab2018
28733061Mitochondrial Replacement Therapy: The Road to the Clinic in Canada.J Obstet Gynaecol Can2017
28688121Assessing the cost of implementing the 2011 Society of Obstetricians and Gynecologists of Canada and Canadian College of Medical Genetics practice guidelines on the detection of fetal aneuploidies.Prenat Diagn2017
25951830The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.J Med Genet2015
24461919Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.Can J Cardiol2014
25067806Discrepant HIV results resolved by human DNA testing.J Clin Virol2014
23273018Copy number variant analysis in CHM to detect duplications underlying choroideremia.Ophthalmic Genet2013
23745999Late diagnosis of human immunodeficiency virus infection in patients with viral hepatitis.Intern Med J2013
22119419How much is enough? Weighing the evidence for mutation pathogenicity.Can J Cardiol2012
22747196Toward optimal detection of the common prenatal aneuploidies by quantitative fluorescent-polymerase chain reaction: comparison of two commercial assays.Genet Test Mol Biomarkers2012
22075756Defining the role of laboratory genetic counselor.J Genet Couns2012
22043142Newborn screening for cystic fibrosis in Alberta: Two years of experience.Paediatr Child Health2010
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Collaborators

Matthew S Lebo
Harvard Medical School, Brigham and Women's Hospital
Co-authored papers 2
Steven C Greenway
Co-authored papers 2
Wolfgang Maier
University Hospital Bonn
Co-authored papers 2
Joanna Hauser
Poznan University of Medical Sciences
Co-authored papers 2
Bartha Maria Knoppers
McGill University
Co-authored papers 2
Ole Mors
Co-authored papers 2
Marcella Rietschel
Central Institute of Mental Health, University of Mannheim
Co-authored papers 2
Ian Bosdet
University of British Columbia
Co-authored papers 2
Erika Kleiderman
Universite de Montreal.
Co-authored papers 1
Marisa W Friederich
University of Colorado School of Medicine, Children's Hospital Colorado
Co-authored papers 1
Eric A Shoubridge
McGill University
Co-authored papers 1
Christian R Marshall
Co-authored papers 1
Steven J M Jones
University of British Columbia
Co-authored papers 1
Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 1
Vardit Ravitsky (CM4AI)
The Hastings Center
Co-authored papers 1
Johan L K Van Hove
Section of Clinical Genetics and Metabolism, University of Colorado
Co-authored papers 1
Taila Hartley
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 1
Arthur Leader
University of Ottawa Faculty of Medicine
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Rosario Isasi
Miller School of Medicine, University of Miami
Co-authored papers 1
Julie Richer
University of Ottawa, Canada Children's Hospital of Eastern Ontario
Co-authored papers 1
Ubaka Ogbogu
University of Alberta
Co-authored papers 1
Christoph Preuss
Universite de Montreal
Co-authored papers 1
William D Foulkes
Segal Cancer Centre, Jewish General Hospital
Co-authored papers 1
Anne-Marie Laberge
UNIVERSITY OF MONTREAL
Co-authored papers 1
Ma'n H Zawati
McGill University
Co-authored papers 1
Bridget A Fernandez
Memorial University of Newfoundland
Co-authored papers 1
George Chong
Lady David Institute for Medical Research, Jewish General Hospital
Co-authored papers 1
Forough Noohi
The University of Chicago
Co-authored papers 1
Release 1.2