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Diagnostics
Original research
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

Authors

  • Salma Shickh Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Mariana Gutierrez Salazar Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Kathleen-Rose Zakoor Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Conxi Lázaro Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Hospital Duran i Reynals, Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet, Barcelona, Spain Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Jessica Gu Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada Genetics, Medcan Clinic, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Jamie Goltz University of Guelph, Guelph, Ontario, Canada PubMed articlesGoogle scholar articles
  • Dakota Kleinman Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Abdul Noor Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Sam Khalouei Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Chloe Mighton Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Emma Reble Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Rita Kodida Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Yvonne Bombard Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Stephanie DiTroia Center for Mendelian Genomics, Broad Institute, Cambridge, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Samantha Baxter Center for Mendelian Genomics, Broad Institute, Cambridge, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Nicholas Watkins Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Melanie Care Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Arnon Adler Department of Cardiology, Peter Munk Cardiac Centre, Toronto General Hospital, Toronto, Ontario, Canada Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Sheri Horsburgh Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Oana Morar Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada Clinical Genetics, Trillium Health Partners, Mississauga, Ontario, Canada PubMed articlesGoogle scholar articles
  • Jillian Murphy Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Dayna-Lynn Nevay Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Marta Szybowska Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Melyssa Aronson Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Seema Panchal Marvelle Koffler Breast Centre, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Ruth Godoy Marvelle Koffler Breast Centre, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada Lifelabs, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Spring Holter Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Susan Randall Armel Familial Breast and Ovarian Cancer Clinic, Princess Margaret Cancer Centre, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Kara Semotiuk Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Christine Elser Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada Marvelle Koffler Breast Centre, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Raymond H Kim Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada Division of Medical Oncology and Hematology, University Health Network, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • David Chitayat Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Joyce So Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Hanna Faghfoury Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Josh Silver Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Chantal F Morel Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Jordan Lerner-Ellis Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Jordan Lerner-Ellis, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada; jordan.lerner-ellis{at}sinaihealth.ca
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Citation

Shickh S, Gutierrez Salazar M, Zakoor K, et al
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
Journal of Medical Genetics 2021;58:275-283.

Publication history

  • Received February 21, 2020
  • Revised April 29, 2020
  • Accepted May 2, 2020
  • First published June 24, 2020.
Online issue publication 
March 22, 2021

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© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.