Population Genome Screening Identifies Previously Undiagnosed Disease: A Case Series
Back to course
Pdf Summary
Asset Subtitle
Presenting Author - Selina Casalino, MSc, CCGC; Co-Author - Hanna Faghfoury, MD, FRCPC, FCCMG; Co-Author - Navneet Aujla, HBSc; Co-Author - David Di Iorio, BSc; Co-Author - Erika Frangione, MSc; Co-Author - Chun Yiu Jordan Fung, BSc; Co-Author - Gregory Morgan, MSc; Co-Author - Mackenzie Scott, BSc; Co-Author - Dawit Wolday, MD, PhD; Co-Author - Saranya Arnoldo, PhD; Co-Author - Erin Bearss, MD, CCFP(EM); Co-Author - Alexandra Binnie, MD; Co-Author - Bjug Borgundvaag, PhD, MD, CCFP(EM); Co-Author - Howard Chertkow, PhD; Co-Author - Sunakshi Chowdhary, MSc; Co-Author - Monica Chung, BSc; Co-Author - Marc Clausen, MA; Co-Author - Marc Dagher, MD; Co-Author - Luke Devine, MD; Co-Author - Steven Marc Friedmen, MD, MPH; Co-Author - Anne-Claude Gingras, PhD; Co-Author - Lee W. Goneau, PhD; Co-Author - Deepanjali Kaushik, MCom, CCRP; Co-Author - Zeeshan Khan, RN; Co-Author - Elisa Lapadula, BSc; Co-Author - Tiffany Lu, MSc; Co-Author - Georgia MacDonald, BSc; Co-Author - Tony Mazzulli, MD; Co-Author - Allison McGeer, MD, FRCPC; Co-Author - Shelley McLeod, MSc, PhD(C); Co-Author - Chloe Mighton, MSc; Co-Author - Trevor J. Pugh, PhD; Co-Author - David Richardson, MD; Co-Author - Jared Simpson, PhD; Co-Author - Seth Stern, MD; Co-Author - Lisa Strug, PhD; Co-Author - Ahmed Taher, MD; Co-Author - Iris Wong, RN; Co-Author - Natasha Zarei, RN; Co-Author - Elena Greenfeld, PhD, MD; Co-Author - Limin Hao, PhD; Co-Author - Matthew S. Lebo, PhD, FACMG; Co-Author - William Lane, M.D, Ph.D; Co-Author - Abdul Noor, PhD; Co-Author - Yvonne Bombard, PhD; Co-Author - Jennifer Taher, PhD; Co-Author - Jordan Lerner-Ellis, PhD;
Meta Tag
Clinical History
Genetic Testing
Genome sequencing
Genotype-Phenotype Correlations
Identification of Disease Genes
Variant Detection
Co-Author Hanna Faghfoury, MD, FRCPC, FCCMG
Co-Author Navneet Aujla, HBSc
Co-Author David Di Iorio, BSc
Co-Author Erika Frangione, MSc
Co-Author Chun Yiu Jordan Fung, BSc
Co-Author Gregory Morgan, MSc
Co-Author Mackenzie Scott, BSc
Co-Author Dawit Wolday, MD, PhD
Co-Author Saranya Arnoldo, PhD
Co-Author Erin Bearss, MD, CCFP(EM)
Co-Author Alexandra Binnie, MD
Co-Author Bjug Borgundvaag, PhD, MD, CCFP(EM)
Co-Author Howard Chertkow, PhD
Co-Author Sunakshi Chowdhary, MSc
Co-Author Monica Chung, BSc
Co-Author Marc Clausen, MA
Co-Author Marc Dagher, MD
Co-Author Luke Devine, MD
Co-Author Steven Marc Friedmen, MD, MPH
Co-Author Anne-Claude Gingras, PhD
Co-Author Lee W. Goneau, PhD
Co-Author Deepanjali Kaushik, MCom, CCRP
Co-Author Zeeshan Khan, RN
Co-Author Elisa Lapadula, BSc
Co-Author Tiffany Lu, MSc
Co-Author Georgia MacDonald, BSc
Co-Author Tony Mazzulli, MD
Co-Author Allison McGeer, MD, FRCPC
Co-Author Shelley McLeod, MSc, PhD(C)
Co-Author Chloe Mighton, MSc
Co-Author Trevor J. Pugh, PhD
Co-Author David Richardson, MD
Co-Author Jared Simpson, PhD
Co-Author Seth Stern, MD
Co-Author Lisa Strug, PhD
Co-Author Ahmed Taher, MD
Co-Author Iris Wong, RN
Co-Author Natasha Zarei, RN
Co-Author Elena Greenfeld, PhD, MD
Co-Author Limin Hao, PhD
Co-Author Matthew S. Lebo, PhD, FACMG
Co-Author William Lane, M.D, Ph.D
Co-Author Abdul Noor, PhD
Co-Author Yvonne Bombard, PhD
Co-Author Jennifer Taher, PhD
Co-Author Jordan Lerner-Ellis, PhD
Presenting Author Selina Casalino, MSc, CCGC
Keywords
case series study
population genome screening
COVID-19
genome sequencing reports
clinically significant findings
pathogenic variants
dermatomyositis
cardiac amyloidosis
ovarian cancer
genetic diagnosis

© 2024 American College of Medical Genetics and Genomics. All rights reserved.

Powered By