부산대학교 도서관

D'Gama, Alissa M ; Mulhern, Sarah ; Sheidley, Beth R ; Boodhoo, Fadil ; Buts, Sarah ; Chandler, Natalie J ; Cobb, Joanna ; Curtis, Meredith ; Higginbotham, Edward J ; Holland, Jonathon ; Khan, Tayyaba ; Koh, Julia ; Liang, Nicole S Y ; McRae, Lyndsey ; Nesbitt, Sarah E ; Oby, Brandon T ; Paternoster, Ben ; Patton, Alistair ; Rose, Graham ; Scotchman, Elizabeth ; Valentine, Rozalia ; Wiltrout, Kimberly N ; Hayeems, Robin Z ; Jain, Puneet ; Lunke, Sebastian ; Marshall, Christian R ; Rockowitz, Shira ; Sebire, Neil J ; Stark, Zornitza ; White, Susan M ; Chitty, Lyn S ; Cross, J Helen ; Scheffer, Ingrid E ; Chau, Vann ; Costain, Gregory ; Poduri, Annapurna ; Howell, Katherine B ; McTague, Amy

In The Lancet Neurology September 2023 22(9):812-825

Stephenson KAJ; Ophthalmology and Vision Sciences, The Hospital for Sick Children (HSC), Toronto, Ontario, Canada.; Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.; Shao Z; Genetics Program, North York General Hospital, University of Toronto, Toronto, Ontario, Canada.; Tumber A; Ophthalmology and Vision Sciences, The Hospital for Sick Children (HSC), Toronto, Ontario, Canada.; Tavares E; Genetics and Genome Biology, The Hospital for Sick Children (HSC), Toronto, Ontario, Canada.; Ahmed K; Genetics and Genome Biology, The Hospital for Sick Children (HSC), Toronto, Ontario, Canada.; Higginbotham EJ; Division of Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children (HSC), Toronto, Ontario, Canada.; Marshall CR; Division of Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children (HSC), Toronto, Ontario, Canada.; Maynes JT; Anesthesia and Pain Medicine and Program in Molecular Medicine, The Hospital for Sick Children (HSC), Toronto, Ontario, Canada.; Rajala A; Department of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.; Rajala RVS; Department of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.; Héon E; Ophthalmology and Vision Sciences, The Hospital for Sick Children (HSC), Toronto, Ontario, Canada.; Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.; Genetics and Genome Biology, The Hospital for Sick Children (HSC), Toronto, Ontario, Canada.; Vincent A; Ophthalmology and Vision Sciences, The Hospital for Sick Children (HSC), Toronto, Ontario, Canada.; Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.; Genetics and Genome Biology, The Hospital for Sick Children (HSC), Toronto, 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

Zarrei, Mehdi; Burton, Christie L; Engchuan, Worrawat; Higginbotham, Edward J; Wei, John; Shaikh, Sabah; Roslin, Nicole M; MacDonald, Jeffrey R; Pellecchia, Giovanna; Nalpathamkalam, Thomas; Lamoureux, Sylvia; Manshaei, Roozbeh; Howe, Jennifer; Trost, Brett; Thiruvahindrapuram, Bhooma; Marshall, Christian R; Yuen, Ryan K C; Wintle, Richard F; Strug, Lisa J; Stavropoulos, Dimitri J

Human Molecular Genetics; Aug2023, Vol. 32 Issue 15, p2411-2421, 11p

Nguyen JNH; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Ontario, Canada.; Lachgar-Ruiz M; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.; Higginbotham EJ; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Coleman M; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; Coleman J; Murdoch Children's Research Institute, Melbourne, Australia.; Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, MA.; Scotchman E; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.; UCL Great Ormond Street Institute of Child Health, Genetic and Genomic Medicine, London, United Kingdom.; Pritchard AJ; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.; Bell KM; Murdoch Children's Research Institute, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.; UCL Great Ormond Street Institute of Child Health, Genetic and Genomic Medicine, London, United Kingdom.; Christodoulou J; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; De Fazio P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Deshwar AR; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Ontario, Canada.; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Eltze C; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.; Griffiths AJS; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Hassell J; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.; Jain P; Department of Paediatrics, University of Toronto, Ontario, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Kaliakatsos M; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.; Neurosciences Department, Great Ormond Street Hospital, London, United Kingdom.; Liang NSY; Department of Molecular Genetics, University of Toronto, Ontario, Canada.; 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UCL Great Ormond Street Institute of Child Health, Genetic and Genomic Medicine, London, United Kingdom.; Cross JH; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Scheffer IE; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.; Chau V; Department of Paediatrics, University of Toronto, Ontario, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Poduri A; Children's Rare Disease Collaborative, Boston Children's Hospital, MA.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, MA.; Howell KB; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Stephenson SEM; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; McTague A; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Costain G; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; D'Gama AM; Children's Rare Disease Collaborative, Boston Children's Hospital, MA.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, MA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, MA; and.; Department of Pediatrics, Harvard Medical School, Boston, MA.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

C Yuen, Ryan K; Merico, Daniele; Bookman, Matt; L Howe, Jennifer; Thiruvahindrapuram, Bhooma; Patel, Rohan V; Whitney, Joe; Deflaux, Nicole; Bingham, Jonathan; Wang, Zhuozhi; Pellecchia, Giovanna; Buchanan, Janet A; Walker, Susan; Marshall, Christian R; Uddin, Mohammed; Zarrei, Mehdi; Deneault, Eric; D'Abate, Lia; Chan, Ada J S; Koyanagi, Stephanie; Paton, Tara; Pereira, Sergio L; Hoang, Ny; Engchuan, Worrawat; Higginbotham, Edward J; Ho, Karen; Lamoureux, Sylvia; Li, Weili; MacDonald, Jeffrey R; Nalpathamkalam, Thomas; Sung, Wilson W L; Tsoi, Fiona J; Wei, John; Xu, Lizhen; Tasse, Anne-Marie; Kirby, Emily; Van Etten, William; Twigger, Simon; Roberts, Wendy; Drmic, Irene; Jilderda, Sanne; Modi, Bonnie MacKinnon; Kellam, Barbara; Szego, Michael; Cytrynbaum, Cheryl; Weksberg, Rosanna; Zwaigenbaum, Lonnie; Woodbury-Smith, Marc; Brian, Jessica; Senman, Lili; Iaboni, Alana; Doyle-Thomas, Krissy; Thompson, Ann; Chrysler, Christina; Leef, Jonathan; Savion-Lemieux, Tal; Smith, Isabel M; Liu, Xudong; Nicolson, Rob; Seifer, Vicki; Fedele, Angie; Cook, Edwin H; Dager, Stephen; Estes, Annette; Gallagher, Louise; Malow, Beth A; Parr, Jeremy R; Spence, Sarah J; Vorstman, Jacob; Frey, Brendan J; Robinson, James T; Strug, Lisa J; Fernandez, Bridget A; Elsabbagh, Mayada; Carter, Melissa T; Hallmayer, Joachim; Knoppers, Bartha M; Anagnostou, Evdokia; Szatmari, Peter; Ring, Robert H; Glazer, David; Pletcher, Mathew T; Scherer, Stephen W

Nature Neuroscience. April, 2017, Vol. 20 Issue 4, p602, 10 p.

Ding Q; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Somerville C; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Manshaei R; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Trost B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; CGEn, The Hospital for Sick Children, Toronto, ON, Canada.; Kalbfleisch K; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Stanley K; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Okello JBA; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; MIT Sloan School of Management, Massachusetts Institute of Technology, Cambridge, MA, USA.; Hosseini SM; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Liston E; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Curtis M; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Zarrei M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Higginbotham EJ; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Chan AJS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Engchuan W; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics and the McLaughlin Centre, University of Toronto, Toronto, ON, Canada.; Kim RH; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada. raymond.kim@sickkids.ca.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada. raymond.kim@sickkids.ca.; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, ON, Canada. raymond.kim@sickkids.ca.; Department of Medicine, University of Toronto, Toronto, ON, Canada. raymond.kim@sickkids.ca.; Jobling RK; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Eisfeldt J; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 77 Stockholm, Sweden.; Higginbotham EJ; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.; Lenner F; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, 751 85 Uppsala, Sweden.; Howe J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.; Fernandez BA; Department of Pediatrics and The Saban Research Institute, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, California 90033, USA.; Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St John's, Newfoundland and Labrador A1B 3V6, Canada.; Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 77 Stockholm, Sweden.; Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.; Department of Molecular Genetics, McLaughlin Centre, University of Toronto, Toronto, Ontario M5S 1A8, Canada.; Feuk L; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, 751 85 Uppsala, Sweden; lars.feuk@igp.uu.se.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

Teles E Silva AL; Hospital Israelita Albert Einstein, São Paulo, Brazil.; Centro de Estudos do Genoma Humano e Células Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.; Glaser T; Instituto de Química, Universidade de São Paulo, São Paulo, Brazil.; Griesi-Oliveira K; Hospital Israelita Albert Einstein, São Paulo, Brazil.; Corrêa-Velloso J; Instituto de Química, Universidade de São Paulo, São Paulo, Brazil.; Wang JYT; Centro de Estudos do Genoma Humano e Células Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.; da Silva Campos G; Centro de Estudos do Genoma Humano e Células Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.; Ulrich H; Instituto de Química, Universidade de São Paulo, São Paulo, Brazil.; Balan A; Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, Brazil.; Zarrei M; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Higginbotham EJ; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Scherer SW; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Passos-Bueno MR; Centro de Estudos do Genoma Humano e Células Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.; Sertié AL; Hospital Israelita Albert Einstein, São Paulo, Brazil. andrea.sertie@einstein.br.

Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101562664 Publication Model: Electronic Cited Medium: Internet ISSN: 2158-3188 (Electronic) Linking ISSN: 21583188 NLM ISO Abbreviation: Transl Psychiatry Subsets: MEDLINE

Liu Y; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China.; Lv Y; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China.; Zarrei M; The Centre for Applied Genomics and Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.; Dong R; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China.; Yang X; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China.; Higginbotham EJ; The Centre for Applied Genomics and Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.; Li Y; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China.; Zhao D; Pediatric Health Care Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China.; Song F; Pediatric Health Care Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China.; Yang Y; Rehabilitation Center, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China.; Zhang H; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China.; Wang Y; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China.; Scherer SW; The Centre for Applied Genomics and Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada. stephen.scherer@sickkids.ca.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada. stephen.scherer@sickkids.ca.; Gai Z; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China. gaizhongtao@sina.com.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Fehlings DL; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Zarrei M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Engchuan W; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Sondheimer N; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; MacDonald JR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; 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Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.; Dlamini N; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Neurosciences and Mental Health Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.; Merico D; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Deep Genomics Inc., Toronto, Ontario, Canada.; Vevo Therapeutics Inc., San Francisco, CA, USA.; Hilali M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Hirschfeld K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Grover K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Bautista NX; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Han K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Yuen RKC; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Subbarao P; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.; Department of Physiology, University of Toronto, Toronto, Ontario, Canada.; Azad MB; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.; Turvey SE; Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.; Mandhane P; Faculty of Medicine & Dentistry, Pediatrics Department, University of Alberta, Edmonton, Alberta, Canada.; Moraes TJ; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Program in Translation Medicine & Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Simons E; Department of Pediatrics and Child Health, Section of Allergy and Clinical Immunology, University of Manitoba, Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada.; Maxwell G; Women's Health Integrated Research Center, Inova Women's Service Line, Inova Health System, Falls Church, VA, USA.; Shevell M; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Departments of Pediatrics and Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.; Costain G; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Michaud JL; Departments of Pediatrics and Neurosciences, Université de Montréal, Montréal, Québec, Canada.; CHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.; Hamdan FF; CHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montréal, Québec, Canada.; Gauthier J; CHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montréal, Québec, Canada.; Uguen K; CHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.; Stavropoulos DJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.; Wintle RF; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Oskoui M; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Departments of Pediatrics and Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.; Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada. Stephen.Scherer@sickkids.ca.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. Stephen.Scherer@sickkids.ca.; Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada. Stephen.Scherer@sickkids.ca.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Merico D; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.; Deep Genomics Inc., Toronto, M5G 1M1, ON, Canada.; Pasternak Y; Canadian Center for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Toronto, M5G1X8, ON, Canada.; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada.; Zarrei M; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.; Higginbotham EJ; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.; Thiruvahindrapuram B; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.; Scott O; Canadian Center for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Toronto, M5G1X8, ON, Canada.; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada.; Willett-Pachul J; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; Grunebaum E; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada.; Upton J; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada.; Atkinson A; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada.; Kim VHD; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada.; Aliyev E; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; Fakhro K; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; Department of Genetic Medicine, Weill-Cornell Medical College, Doha, Qatar.; Scherer SW; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, M5S 1A8, ON, Canada.; McLaughlin Centre, University of Toronto, Toronto, M5G 0A4, ON, Canada.; Roifman CM; Canadian Center for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Toronto, M5G1X8, ON, Canada. chaim.roifman@sickkids.ca.; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada. chaim.roifman@sickkids.ca.; University of Toronto, Toronto, M5S 1A8, ON, Canada. chaim.roifman@sickkids.ca.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Zarrei, Mehdi; Fehlings, Darcy L; Mawjee, Karizma; Switzer, Lauren; Thiruvahindrapuram, Bhooma; Walker, Susan; Merico, Daniele; Casallo, Guillermo; Uddin, Mohammed; MacDonald, Jeffrey R; Gazzellone, Matthew J; Higginbotham, Edward J; Campbell, Craig; deVeber, Gabrielle; Frid, Pam; Gorter, Jan Willem; Hunt, Carolyn; Kawamura, Anne; Kim, Marie; McCormick, Anna; Mesterman, Ronit; Samdup, Dawa; Marshall, Christian R; Stavropoulos, Dimitri J; Wintle, Richard F; Scherer, Stephen W

Genet Med
Paediatrics Publications

Li D; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Wang Q; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Battig MR; Center for Applied Genomics, and.; Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bosch DG; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Granger L; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA.; Petersen AK; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA.; Pérez-Jurado LA; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Genetic Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Universitat Pompeu Fabra, Barcelona, Spain.; Aznar-Laín G; Universitat Pompeu Fabra, Barcelona, Spain.; Pediatric Neurology, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Aneja A; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Schwarz M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Kremlikova Pourova R; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Keena BA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; March ME; Center for Applied Genomics, and.; Hou C; Center for Applied Genomics, and.; O'Connor N; Center for Applied Genomics, and.; Bhoj EJ; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Harr MH; Center for Applied Genomics, and.; Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Towne M; Ambry Genetics, Aliso Viejo, California, USA.; Li M; Invitae, San Francisco, California, USA.; Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.; Brady L; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.; Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, United Kingdom.; Faghfoury H; University Health Network, Toronto, Ontario, Canada.; Parsley LK; University of Illinois College of Medicine, Mercy Health Systems, Rockford, Illinois, USA.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Wright M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Lai K; Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, Utah, USA.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and.; Iacomino M; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy.; Zara F; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy.; Cooper A; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, California, USA.; Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, California, USA.; Byler M; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA.; Lebel RR; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA.; Balci TB; Division of Genetics, Department of Paediatrics, London Health Sciences Centre, London, Ontario, Canada.; Louie R; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Lyons M; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Nowak C; Division of Genetics and Metabolism, Mass General Hospital for Children, Boston, Massachusetts, USA.; Afenjar A; APHP. SU, Reference Center for Intellectual Disabilities Caused by Rare Causes, Department of Genetics and Medical Embryology, Hôpital Trousseau, Paris, France.; Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Keren B; Department of Genetics, Hospital Pitié-Salpêtrière, Paris, France.; Maas SM; Department of Human Genetics, Academic Medical Center, and.; Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.; Rabani AM; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.; McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics.; Falk MJ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics.; Ruggiero SM; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Helbig I; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Møller RS; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Tessarollo L; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.; Tomassoni Ardori F; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.; Palko ME; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Ganapathi M; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA.; Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA.; Jobanputra V; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA.; Wilson A; New York Genome Center, New York, New York, USA.; Greally J; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.; Jacquemont S; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.; Jizi K; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.; Bruel AL; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Translational Medicine in Developmental Anomalies, CHU Dijon Bourgogne, Dijon, France.; Quelin C; Medical Genetics Department, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France.; Misra VK; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Central Michigan University College of Medicine, Discipline of Pediatrics, Mount Pleasant, Michigan, USA.; Chick E; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Romano C; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.; Greco D; Oasi Research Institute-IRCCS, Troina, Italy.; Arena A; Oasi Research Institute-IRCCS, Troina, Italy.; Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Seyama R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.; Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Taira R; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Tashiro K; Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan.; Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; Wagner M; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany.; Kutsche B; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany.; Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.; Schmidt R; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Randolph L; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Division of Medical Genetics, Children's Hospital Los Angeles, California, USA.; Spillmann RC; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.; Shashi V; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.; Higginbotham EJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, and.; Cordeiro D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Carnevale A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Khan T; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Funalot B; Department of Genetics, Hôpital Henri-Mondor APHP and CHI Creteil, University Paris Est Creteil, IMRB, Inserm U.955, Creteil, France.; Tran Mau-Them F; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; Fernandez Garcia Moya L; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Chad L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Quercia N; Department of Genetic Counselling, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Ottawa, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas, USA.; Li C; Division of Genetics, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.; Sanchez-Valle A; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA.; Kelley M; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA.; Nizon M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Jensson BO; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Sulem P; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Stefansson K; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Gorokhova S; Aix Marseille University, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France.; Busa T; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France.; Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Hadj Habdallah H; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Amiel J; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Pingault V; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Mercier S; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Vincent M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Philippe C; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; Fatus-Fauconnier C; Reference Center for Hereditary Metabolic Diseases, CHU Dijon Bourgogne, Dijon, France.; Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Halligan RK; Metabolic Clinic, and.; Biswas S; Metabolic Clinic, and.; Rosser J; Department of General Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia.; Shoubridge C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Corbett M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Barnett C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Pediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.; Leppig K; Genetic Services, Kaiser Permenante of Washington, Seattle, Washington, USA.; Slavotinek A; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Cogne B; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Rambaud T; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Song Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Hakonarson H; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Zarrei M; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; Burton CL; 3Neurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON Canada.; Engchuan W; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; Young EJ; 4Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON Canada.; Higginbotham EJ; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; 5Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.; MacDonald JR; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Trost B; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; Chan AJS; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; 5Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.; Walker S; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Lamoureux S; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Heung T; 6Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON Canada.; Mojarad BA; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; Kellam B; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Paton T; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Faheem M; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; Miron K; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; Lu C; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Wang T; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Samler K; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Wang X; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Costain G; 7Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON Canada.; 8Medical Genetics Residency Training Program, University of Toronto, Toronto, ON Canada.; Hoang N; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; 5Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.; 9Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON Canada.; Pellecchia G; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Wei J; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Patel RV; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Thiruvahindrapuram B; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Roifman M; 7Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON Canada.; 10The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON Canada.; 11Department of Paediatrics, University of Toronto, Toronto, ON Canada.; Merico D; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Deep Genomics Inc., Toronto, ON Canada.; Goodale T; 3Neurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON Canada.; Drmic I; Hamilton Health Sciences, Ron Joyce Children's Health Centre, Hamilton, On Canada.; Speevak M; 14Trillium Health Partners Credit Valley Site, Mississauga, Ontario Canada.; Howe JL; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Yuen RKC; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; Buchanan JA; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Vorstman JAS; 15Department of Psychiatry, University of Toronto, Toronto, ON Canada.; 16Autism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.; Marshall CR; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; 4Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON Canada.; 17Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada.; Wintle RF; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; Rosenberg DR; 18Department of Psychiatry and Behavioral Neurosciences, Wayne State University, Detroit, MI USA.; 19The Children's Hospital of Michigan, Detroit, MI United States.; Hanna GL; 20Department of Psychiatry, University of Michigan, Ann Arbor, MI USA.; Woodbury-Smith M; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; 21Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; Cytrynbaum C; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; 5Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.; 7Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON Canada.; 22Dalla Lana School of Public Health and the Department of Family and Community Medicine, University of Toronto, Toronto, ON Canada.; Zwaigenbaum L; 23Department of Pediatrics, University of Alberta, Edmonton, AB Canada.; Elsabbagh M; 24Montreal Neurological Institute, McGill University, Montreal, QC Canada.; Flanagan J; 11Department of Paediatrics, University of Toronto, Toronto, ON Canada.; Fernandez BA; 25Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL Canada.; Carter MT; 26Regional Genetics Program, The Children's Hospital of Eastern Ontario, Ottawa, ON Canada.; Szatmari P; 15Department of Psychiatry, University of Toronto, Toronto, ON Canada.; 27Centre for Addiction and Mental Health, Toronto, ON Canada.; 28Department of Psychiatry, The Hospital for Sick Children, Toronto, ON Canada.; Roberts W; 16Autism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.; Lerch J; 29Mouse Imaging Centre, Hospital for Sick Children, Toronto, ON Canada.; 30Department of Medical Biophysics, The University of Toronto, Toronto, ON Canada.; Liu X; 31Department of Psychiatry, Queen's University, Kinston, ON Canada.; Nicolson R; 32Children's Health Research Institute, London, ON Canada.; 33Western University, London, ON Canada.; Georgiades S; 34Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON Canada.; Weksberg R; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; 7Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON Canada.; 5Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.; Arnold PD; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; 35Mathison Centre for Mental Health Research and Education, University of Calgary, Calgary, AB Canada.; 36Departments of Psychiatry and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB Canada.; Bassett AS; 6Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON Canada.; 15Department of Psychiatry, University of Toronto, Toronto, ON Canada.; 37The Dalglish Family 22q Clinic, Toronto General Hospital, Toronto, ON Canada.; Crosbie J; 3Neurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON Canada.; 15Department of Psychiatry, University of Toronto, Toronto, ON Canada.; Schachar R; 3Neurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON Canada.; 15Department of Psychiatry, University of Toronto, Toronto, ON Canada.; 38Institute of Medical Science, University of Toronto, Toronto, ON Canada.; Stavropoulos DJ; 4Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON Canada.; Anagnostou E; 39Holland Bloorview Kids Rehabilitation Hospital, University of Toronto, Toronto, ON Canada.; Scherer SW; 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; 2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.; 5Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.; 40Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, ON Canada.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Trost B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Chan AJS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Engchuan W; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Higginbotham EJ; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Howe JL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Loureiro LO; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; CGEn, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Roshandel D; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Whitney J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Zarrei M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Bookman M; Verily Life Sciences, South San Francisco, CA 94080, USA.; Somerville C; Ted Rogers Centre for Heart Research, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Shaath R; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Abdi M; Department of Human Genetics, Sidra Medicine, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Aliyev E; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; Patel RV; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Nalpathamkalam T; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Pellecchia G; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Hamdan O; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Kaur G; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Wang Z; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; MacDonald JR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Wei J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Sung WWL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Lamoureux S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Hoang N; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Autism Research Unit, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Selvanayagam T; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Autism Research Unit, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Deflaux N; Verily Life Sciences, South San Francisco, CA 94080, USA.; Geng M; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; Ghaffari S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Bates J; Verily Life Sciences, South San Francisco, CA 94080, USA.; Young EJ; Genome Diagnostics, Department of Paediatric Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Ding Q; Ted Rogers Centre for Heart Research, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Shum C; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; D'Abate L; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Bradley CA; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Neurosciences and Mental Health, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Rutherford A; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; Aguda V; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Apresto B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Chen N; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Desai S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Du X; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Fong MLY; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Pullenayegum S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Samler K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Wang T; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Ho K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Paton T; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Pereira SL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Herbrick JA; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Wintle RF; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Fuerth J; DNAstack, Toronto, ON M5H 1T1, Canada.; Noppornpitak J; DNAstack, Toronto, ON M5H 1T1, Canada.; Ward H; DNAstack, Toronto, ON M5H 1T1, Canada.; Magee P; DNAstack, Toronto, ON M5H 1T1, Canada.; Al Baz A; DNAstack, Toronto, ON M5H 1T1, Canada.; Kajendirarajah U; DNAstack, Toronto, ON M5H 1T1, Canada.; Kapadia S; DNAstack, Toronto, ON M5H 1T1, Canada.; Vlasblom J; DNAstack, Toronto, ON M5H 1T1, Canada.; Valluri M; DNAstack, Toronto, ON M5H 1T1, Canada.; Green J; DNAstack, Toronto, ON M5H 1T1, Canada.; Seifer V; Autism Speaks, Princeton, NJ 08540, USA.; Quirbach M; Autism Speaks, Princeton, NJ 08540, USA.; Rennie O; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Kelley E; Department of Psychology, Queen's University, Kingston, ON K7L 3N6, Canada; Department of Psychiatry, Queen's University, Kingston, ON K7L 7X3, Canada.; Masjedi N; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90024, USA.; Lord C; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90024, USA.; Szego MJ; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Family and Community Medicine, University of Toronto, Toronto, ON M5G 1V7, Canada; Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5T 3M7, Canada.; Zawati MH; Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.; Lang M; Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.; Strug LJ; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Statistical Sciences, University of Toronto, Toronto, ON M5S 3G3, Canada.; Marshall CR; Genome Diagnostics, Department of Paediatric Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada.; Costain G; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.; Calli K; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada; BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Iaboni A; Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON M4G 1R8, Canada.; Yusuf A; Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada.; Ambrozewicz P; Autism Research Unit, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Psychology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Gallagher L; Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin 2, Ireland; Department of Psychiatry, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Child, Youth and Family Services, The Centre for Addiction and Mental Health, Toronto, ON M6J 1H4, Canada; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada.; Amaral DG; MIND Institute, University of California, Davis, Sacramento, CA 95817, USA; Department of Psychiatry and Behavioral Sciences, University of California, Davis, Sacramento, CA 95817, USA.; Brian J; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON M4G 1R8, Canada.; Elsabbagh M; Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada.; Georgiades S; Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON L8N 3K7, Canada.; Messinger DS; Department of Psychology, University of Miami, Miami, FL 33124, USA.; Ozonoff S; MIND Institute, University of California, Davis, Sacramento, CA 95817, USA; Department of Psychiatry and Behavioral Sciences, University of California, Davis, Sacramento, CA 95817, USA.; Sebat J; Department of Psychiatry and Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA.; Sjaarda C; Department of Psychiatry, Queen's University, Kingston, ON K7L 7X3, Canada; Queen's Genomics Lab at Ongwanada, Queen's University, Kingston, ON K7M 8A6, Canada.; Smith IM; Department of Pediatrics, Dalhousie University, Halifax, NS B3H 4R2, Canada; IWK Health Centre, Halifax, NS B3K 6R8, Canada.; Szatmari P; Department of Psychiatry, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada; Centre for Addiction and Mental Health, Toronto, ON M6J 1H4, Canada.; Zwaigenbaum L; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada.; Kushki A; Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON M4G 1R8, Canada; Institute of Biomedical Engineering, University of Toronto, Toronto, ON M5S 3G9, Canada.; Frazier TW; Autism Speaks, Princeton, NJ 08540, USA; Department of Psychology, John Carroll University, Cleveland, OH 44118, USA.; Vorstman JAS; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada.; Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar; Department of Genetic Medicine, Weill Cornell Medical College in Qatar, Doha, Qatar.; Fernandez BA; Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA; Keck School of Medicine of USC, University of Southern California, Los Angeles, CA 90033, USA.; Lewis MES; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada; BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Weksberg R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.; Fiume M; DNAstack, Toronto, ON M5H 1T1, Canada.; Yuen RKC; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; Anagnostou E; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON M4G 1R8, Canada.; Sondheimer N; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.; Glazer D; Verily Life Sciences, South San Francisco, CA 94080, USA.; Hartley DM; Autism Speaks, Princeton, NJ 08540, USA.; Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; McLaughlin Centre, Toronto, ON M5G 0A4, Canada. Electronic address: stephen.scherer@sickkids.ca.

Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

Trost B; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Walker S; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Haider SA; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Sung WWL; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Pereira S; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Phillips CL; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Higginbotham EJ; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Strug LJ; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Statistical Sciences, University of Toronto, Toronto, Ontario, Canada.; Nguyen C; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Raajkumar A; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Szego MJ; Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.; Department of Family and Community Medicine, University of Toronto, Toronto, Ontario, Canada.; Marshall CR; Department of Paediatric Laboratory Medicine, Genome Diagnostics, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.; Scherer SW; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada stephen.scherer@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE