부산대학교 도서관

Tesi, B; Boileau, C; Boycott, KM; Canaud, G; Caulfield, M; Choukair, D; Hill, S; Spielmann, M; Wedell, A; Wirta, V

JOURNAL OF INTERNAL MEDICINE. 294(4):397-412

Lessard LE; Department of Medicine (Neurology), The Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Canada.; The Ottawa Hospital Research Institute, Ottawa, Canada.; Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Université de Lyon, Lyon, France.; Bourque DK; Division of Metabolics and Newborn Screening, CHEO, University of Ottawa, Ottawa, Canada.; Bourque PJ; Department of Medicine (Neurology), The Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Canada.; The Ottawa Hospital Research Institute, Ottawa, Canada.; Lochmüller H; Department of Medicine (Neurology), The Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Canada.; The Ottawa Hospital Research Institute, Ottawa, Canada.; Machado J; Department of Medicine (Neurology), The Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Canada.; The Ottawa Hospital Research Institute, Ottawa, Canada.; Del Gobbo GF; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Smith IC; The Ottawa Hospital Research Institute, Ottawa, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Warman-Chardon J; Department of Medicine (Neurology), The Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Canada.; The Ottawa Hospital Research Institute, Ottawa, Canada.; Breiner A; Department of Medicine (Neurology), The Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Canada.; The Ottawa Hospital Research Institute, Ottawa, Canada.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Price EM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Buske OJ; PhenoTips, Toronto, Canada.; Frew M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Couse M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Klamann C; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Le HGBH; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Xu J; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; So D; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Jain A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Lu K; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Mo K; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Wyllie H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Wall E; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Driver HG; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Cheung WA; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; Cohen ASA; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Farrow EG; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Consortium CRC; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Turinsky AL; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA.; Children's Mercy Research Institute, Kansas City, Missouri, USA.; Brudno M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; PhenoTips, Toronto, Canada.; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; UHN DATA Team, University Health Network, Toronto, Canada.; Department of Computer Science, University of Toronto, Toronto, Canada.; Vector Institute, Toronto, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Ungar WJ; Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON, Canada; Institute for Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada. Electronic address: wendy.ungar@sickkids.ca.; Wu V; Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Marshall CR; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada.; Hwang J; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada.; Hayeems RZ; Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON, Canada; Institute for Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Tsiplova K; Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Gillespie MK; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Szuto A; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada.; Chisholm C; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Stavropoulos DJ; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada.; Venkataramanan V; Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Xiao B; Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Costain G; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada.; Bergeron MB; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Sawyer S; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Lau L; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada.; Huang L; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada.; Somerville MJ; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada.; Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Shickh S; Child Health Evaluative Sciences, The Hospital for Sick Children (SickKids), Toronto, ON, Canada.; Fooks K; Child Health Evaluative Sciences, The Hospital for Sick Children (SickKids), Toronto, ON, Canada.; Venkataramanan V; Child Health Evaluative Sciences, The Hospital for Sick Children (SickKids), Toronto, ON, Canada.; Acker M; Child Health Evaluative Sciences, The Hospital for Sick Children (SickKids), Toronto, ON, Canada.; MacDonald KV; Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada.; Seeger TA; Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada.; Gillespie M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Bernier F; Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.; Marshall DA; Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.; Hayeems RZ; Child Health Evaluative Sciences, The Hospital for Sick Children (SickKids), Toronto, ON, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada. Electronic address: robin.hayeems@sickkids.ca.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Hayeems RZ; Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON, Canada; Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada. Electronic address: robin.hayeems@sickkids.ca.; Ungar WJ; Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON, Canada; Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Marshall CR; Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, ON, Canada.; Gillespie MK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Szuto A; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada.; Huang L; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Venkataramanan V; Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Xiao B; Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Chisholm C; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Stavropoulos DJ; Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, ON, Canada.; Bergeron MB; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Lee W; Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON, Canada; Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Costain G; Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada.; Jobling R; Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada.; Sawyer S; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Price EM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Lau L; Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada.; Mendoza R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada; Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Somerville MJ; Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, ON, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Cuillerier A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Goodman A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Lawrence C; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Villeneuve-Cloutier N; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Armour CM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Bourque DK; Division of Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Lazier J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Sawyer SL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Saleh M; Division of Genetics, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Children's Health Research Institute, London Health Sciences Centre Research Institute, London, Ontario, Canada.; Prasad C; Division of Genetics, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Children's Health Research Institute, London Health Sciences Centre Research Institute, London, Ontario, Canada.; Siu VM; Division of Genetics, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Children's Health Research Institute, London Health Sciences Centre Research Institute, London, Ontario, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Balci TB; Division of Genetics, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Children's Health Research Institute, London Health Sciences Centre Research Institute, London, Ontario, Canada.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Del Gobbo GF; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Wang X; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; MacDonald SK; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.; Liang Y; Centre for Computational Medicine, the Hospital for Sick Children, Toronto, Ontario, Canada.; McMillan HJ; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Canada.; Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE; In Process

Mackley MP; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: michael.mackley@mail.utoronto.ca.; Richer J; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.; Boycott KM; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; In Process

Zhu R; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Liu L; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Department of Human Genetics, McGill University, Montreal, Québec, Canada.; Estiar MA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Department of Human Genetics, McGill University, Montreal, Québec, Canada.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Asayesh F; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Ahmad J; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Teferra M; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Yoon G; Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.; Tarnopolsky M; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Dupre N; Neuroscience Axis, CHU de Québec, Université Laval, Québec City, Québec, Canada.; Department of Medicine, Faculty of Medicine, Université Laval, Québec City, Québec, Canada.; Dion PA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Department of Human Genetics, McGill University, Montreal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada.; Suchowersky O; Department of Medicine (Neurology) and Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Jordanova A; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria.; Lee YC; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan.; Brain Research Center, National Yang-Ming University, Taipei, Taiwan.; Stevanin G; University of Bordeaux, INCIA, UMR5287, CNRS, EPHE, Bordeaux, France.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Rouleau GA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Department of Human Genetics, McGill University, Montreal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada.; Gan-Or Z; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Department of Human Genetics, McGill University, Montreal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

MacDonald KV; Department of Community Health Sciences, Cumming School of Medicine, Health Research Innovation Centre, University of Calgary, Room 3C58, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada.; Heidenreich S; Department of Community Health Sciences, Cumming School of Medicine, Health Research Innovation Centre, University of Calgary, Room 3C58, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada.; Evidera Inc., London, UK.; Krucien N; Evidera Inc., London, UK.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Bernier FP; Departments of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary and Alberta Children's Hospital Research Institute, Calgary, AB, Canada.; Ryan M; Health Economics Research Unit, University of Aberdeen, Aberdeen, Scotland.; Marshall DA; Department of Community Health Sciences, Cumming School of Medicine, Health Research Innovation Centre, University of Calgary, Room 3C58, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada. Damarsha@ucalgary.ca.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101134867 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1618-7601 (Electronic) Linking ISSN: 16187598 NLM ISO Abbreviation: Eur J Health Econ Subsets: MEDLINE

Ediae GU; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; White-Brown A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Chisholm C; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Terekhov I; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Seymour J; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Guo J; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Mitsakakis N; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Sawyer SL; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. Electronic address: kboycott@cheo.on.ca.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Iruzubieta P; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Department of Neurosciences, Biogipuzkoa Health Research Institute. Donostia-San Sebastián, Spain, CIBERNED Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), 28029, Madrid, Spain.; Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Department of Neuromuscular Disease, The National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, University College London, London, UK.; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Ashton C; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Department of Neurology, Fiona Stanley Hospital, Perth, WA, Australia.; Villa F; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Renaud M; Service de Génétique Clinique Et de Neurologie, Hôpital Brabois Enfants, Nancy, France.; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France.; Dicaire MJ; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Aldecoa M; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Mathieu J; Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC, Canada.; Massie R; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Chalk CH; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Lafontaine AL; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Evoy F; Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC, Canada.; Rioux MF; Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC, Canada.; Brisson JD; Faculté de Médecine Et Des Sciences de La Santé, Université de Sherbrooke, 3001 12E Avenue Nord, Sherbrooke, QC, J1H 5N4, Canada.; Groupe de Recherche Interdisciplinaire Sur Les Maladies Neuromusculaires (GRIMN), Clinique Des Maladies Neuromusculaires, Centre Intégré Universitaire de Santé Et de Services Sociaux du Saguenay-Lac-St-Jean 2230 de l'Hôpital 7e étage C.P. 1200, Saguenay, QC, G7X 7X2, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Houlden H; Department of Neuromuscular Disease, The National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, University College London, London, UK.; Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; La Piana R; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Department of Diagnostic Radiology, McGill University, Montreal, QC, Canada.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Duquette A; Department of Neurosciences, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada.; Centre de Recherche du Centre Hospitalier de L'Université de Montréal (CRCHUM), Montréal, QC, Canada.; Centre de Réadaptation Lucie-Bruneau, Montréal, QC, Canada.; Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada. bernard.brais@mcgill.ca.; Centre de Réadaptation Lucie-Bruneau, Montréal, QC, Canada. bernard.brais@mcgill.ca.; Department of Human Genetics, McGill University, Montreal, QC, Canada. bernard.brais@mcgill.ca.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Poole E; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Luca S; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Assamad D; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; The Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Xiao B; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Yan J; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Xia YY; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Abbott LS; Division of Hematology/Oncology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Armstrong L; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Division of Medical Genetics, British Columbia Children's Hospital, Vancouver, BC, Canada.; Birch P; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Boycott KM; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Carroll JC; Department of Family and Community Medicine, Sinai Health, University of Toronto, Toronto, ON, Canada.; Chad L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Department of Bioethics, The Hospital for Sick Children, Toronto, ON, Canada.; Chitayat D; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.; Department of Genetic Counseling, The Hospital for Sick Children, Toronto, ON, Canada.; Denburg A; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; The Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.; Deyell RJ; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Division of Pediatric Hematology/Oncology/BMT, British Columbia Children's Hospital, Vancouver, BC, Canada.; Elliott AM; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Goudie C; Department of Pediatrics, Division of Hematology-Oncology, McGill University Health Centre, Montreal, QC, Canada.; Laberge AM; Division of Medical Genetics, Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC, Canada.; Maio M; Mackenzie Richmond Hill Hospital, Richmond Hill, ON, Canada.; Peltekova IT; Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Division of Developmental Pediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada.; Quinlan B; Patient Partner, Ontario Genetics Advisory Committee, Ontario Health.; Sawyer SL; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Silver R; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.; Smith M; Patient Partner, Canadian Organization for Rare Disorders.; Teitelbaum R; Mackenzie Richmond Hill Hospital, Richmond Hill, ON, Canada.; Villani A; Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.; Ungar WJ; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; The Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Hayeems RZ; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; The Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Gerber B; Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada.; Currie GR; Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada. currie@ucalgary.ca.; Department of Pediatrics, University of Calgary, Calgary, AB, Canada. currie@ucalgary.ca.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada. currie@ucalgary.ca.; Health Research Innovation Centre, University of Calgary, Room 3C56, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada. currie@ucalgary.ca.; Mosoiu A; The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Bernier A; Centre of Genomics and Policy, Faculty of Medicine and Health Sciences, McGill University, Montreal, Canada.; Bernier FP; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada.; Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Fiebelkorn G; Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Hens K; Department of Philosophy, University of Antwerp, Antwerp, Belgium.; Institute of Philosophy, KU Leuven, Leuven, Belgium.; Knoppers BM; Centre of Genomics and Policy, Faculty of Medicine and Health Sciences, McGill University, Montreal, Canada.; LeBlanc C; Department of Pediatrics, Faculty of Medicine, McGill University, Montreal, QC, Canada.; Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Canada, ON.; McLaughlin Centre, Toronto, ON, Canada.; Shaw D; Institute for Biomedical Ethics, University of Basel, Basel, Switzerland.; Care and Public Health Research Institute, Universiteit Maastricht, Maastricht, Netherlands.; Viney C; Legal Services , The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Virtanen C; HPC4Health, University Health Network, Toronto, ON, Canada.; Benseler SM; Department of Pediatrics, University of Calgary, Calgary, AB, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.; Alberta Health Services, Calgary, AB, Canada.; Chief Academic Office and Head of Pediatrics Health Affairs, Children's Health Ireland, Dublin, Ireland.; Yeung RSM; Departments of Pediatrics, Immunology and Medical Science, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Marshall DA; Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.; McCaig Institute for Bone and Joint Health, University of Calgary, Calgary, AB, Canada.; O'Brien Institute for Public Health, University of Calgary, Calgary, AB, Canada.

Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096 (Electronic) Linking ISSN: 15460096 NLM ISO Abbreviation: Pediatr Rheumatol Online J Subsets: MEDLINE; In Process

Degeling K; Cancer Health Services Research, Centre for Health Policy and Centre for Cancer Research, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Australia.; Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada.; Tagimacruz T; Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada.; MacDonald KV; Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada.; Seeger TA; Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada.; Fooks K; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.; Venkataramanan V; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Bernier FP; Department of Medical Genetics, University of Calgary, Calgary, AB, Canada.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Hayeems RZ; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.; Institute of Health Policy, Management and Evaluation, The University of Toronto, Toronto, ON, Canada.; Marshall DA; Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada. damarsha@ucalgary.ca.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada. damarsha@ucalgary.ca.

Publisher: Open Mind Journals Ltd Country of Publication: New Zealand NLM ID: 101150314 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1896 (Electronic) Linking ISSN: 11755652 NLM ISO Abbreviation: Appl Health Econ Health Policy Subsets: MEDLINE

Venkateswaran S; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Children's Hospital, London Health Sciences Centre, Western University, London, Canada.; Michaud J; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Canada.; Ito Y; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Geraghty M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Newborn Screening Ontario, Ottawa, Canada.; Lewis EC; University of Toronto, Toronto, Canada.; Ellezam B; Division of Pathology, CHU Ste-Justine, University of Montréal, Montréal, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Newborn Screening Ontario, Ottawa, Canada.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Cheng, H; Dharmadhikari, AV; Varland, S; Ma, N; Domingo, D; Kleyner, R; Rope, AF; Yoon, M; Stray-Pedersen, A; Posey, JE; Crews, SR; Eldomery, MK; Akdemir, ZC; Lewis, AM; Sutton, VR; Rosenfeld, JA; Conboy, E; Agre, K; Xia, F; Walkiewicz, M; Longoni, M; High, FA; van Slegtenhorst, MA; Mancini, GMS; Finnila, CR; van Haeringen, A; den Hollander, N; Ruivenkamp, C; Naidu, S; Mahida, S; Palmer, EE; Murray, L; Lim, D; Jayakar, P; Parker, MJ; Giusto, S; Stracuzzi, E; Romano, C; Beighley, JS; Bernier, RA; Küry, S; Nizon, M; Corbett, MA; Shaw, M; Gardner, A; Barnett, C; Armstrong, R; Kassahn, KS; Van Dijck, A; Vandeweyer, G; Kleefstra, T; Schieving, J; Jongmans, MJ; de Vries, BBA; Pfundt, R; Kerr, B; Rojas, SK; Boycott, KM; Person, R; Willaert, R; Eichler, EE; Kooy, RF; Yang, Y; Wu, JC; Lupski, JR; Arnesen, T; Cooper, GM; Chung, WK; Gecz, J; Stessman, HAF; Meng, L; Lyon, GJ; Palmer, Elizabeth

American Journal of Human Genetics, 102, 5, pp. 985-994
The American journal of human genetics
Kerr, B & et, A 2018, 'Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2018.03.004

Stanley KJ; Program in Genetics and Genome Biology, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.; Chisholm C; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Gillespie MK; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Del Signore N; TRIAGE-GS Patient/Family Partnership Team, The Hospital for Sick Children, Toronto, Ontario, Canada.; Elango S; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; University of Ottawa, Ottawa, Ontario, Canada.; Hewson S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Kim RH; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada.; McSheffrey G; Child, Youth, Family Services, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.; Sawyer SL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; University of Ottawa, Ottawa, Ontario, Canada.; Somerville M; Division of Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Venkataramanan V; Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.; White-Brown A; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Telesca S; TRIAGE-GS Patient/Family Partnership Team, The Hospital for Sick Children, Toronto, Ontario, Canada.; Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada.; Shickh S; Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.; Marshall CR; Division of Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.; Ungar WJ; Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.; Hayeems RZ; Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.; Bhawra J; School of Occupational and Public Health, Faculty of Community Services, Toronto Metropolitan University, Toronto, Ontario, Canada.; Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada gregory.costain@sickkids.ca kboycott@cheo.on.ca.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Costain G; Program in Genetics and Genome Biology, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada gregory.costain@sickkids.ca kboycott@cheo.on.ca.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.

Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

Lerner-Ellis JP; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Toronto, ON M5G 1X5, Canada. Electronic address: jordan.lerner-ellis@sinaihealth.ca.; Price EM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Subhani S; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada; Lunenfeld-Tanenbaum Research Institute, Toronto, ON M5G 1X5, Canada.; Boughtwood T; Australian Genomics, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Brion MJ; Australian Genomics, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Rendon A; Genomics England, London E14 5AB, UK.; Cividanes L; Danish National Genome Center, 2300 Copenhagen, Denmark.; Gemmer J; Danish National Genome Center, 2300 Copenhagen, Denmark.; Ciofani D; The Broad Institute, Boston, MA 02142, USA.; Bertin N; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A∗STAR), 60 Biopolis Street, Genome #02-01, Singapore 138672, Singapore.; Wee SS; Precision Health Research, Singapore (PRECISE), Singapore 139234, Singapore.; Robertson S; The Laboratory for Genomic Medicine, Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.; Baz B; Saudi Human Genome Program, Health Sector, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; Crameri K; Personalized Health Informatics Group, SIB Swiss Institute of Bioinformatics, 4051 Basel, Switzerland.; Österle S; Personalized Health Informatics Group, SIB Swiss Institute of Bioinformatics, 4051 Basel, Switzerland.; Wirta V; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Sikora P; Genomic Medicine Sweden, Gothenburg, Sweden.; Lindstrand A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden; Karolinska Institutet, Department of Molecular Medicine and Surgery, 171 76 Stockholm, Sweden.; Nowak F; 2025 France Genomic Medicine Initiative, Health Technologies Institute, INSERM, Paris, France.; Amado I; 2025 France Genomic Medicine Initiative, Health Technologies Institute, INSERM, Paris, France.; Mulder NJ; H3ABioNet, a Pan African Bioinformatics Network for H3Africa, Computational Biology Division, IDM, University of Cape Town, Cape Town, South Africa.; Ganna A; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.; Goodhand P; Global Alliance for Genomics and Health (GA4GH), Ontario Institute for Cancer Research (OICR), Toronto, ON, Canada.; Smith LD; Global Alliance for Genomics and Health (GA4GH), Ontario Institute for Cancer Research (OICR), Toronto, ON, Canada; The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Marshall CR; The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Zawati M; Centre of Genomics and Policy, McGill University, Montreal, QC H3A 0G1, Canada.; Ferretti V; Department of Biochemistry and Molecular Medicine, Faculty of Medicine, Université de Montréal, Montreal, QC H3T 1J4, Canada; CHU Sainte-Justine Azrieli Research Center, Montreal, QC H3T 1C5, Canada.; Michaud JL; CHU Sainte-Justine Azrieli Research Center, Montreal, QC H3T 1C5, Canada; Department of Pediatrics and Neurosciences, Faculty of Medicine, Université de Montreal, Montréal, QC, Canada.; Bulman D; Alberta Precision Laboratories, Edmonton, AB T3K 2A8, Canada; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 1N4, Canada; Clinical Genetics Unit, Alberta Children's Hospital Research Institute (ACHRI), Calgary, AB T3B 6A8, Canada.; Bernier F; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 1N4, Canada; Clinical Genetics Unit, Alberta Children's Hospital Research Institute (ACHRI), Calgary, AB T3B 6A8, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: kboycott@cheo.on.ca.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE