المؤلفون: Chan, AJS, Engchuan, W, Reuter, MS, Wang, ZZ, Thiruvahindrapuram, B, Trost, B, Nalpathamkalam, T, Negrijn, C, Lamoureux, S, Pellecchia, G, Patel, R, Sung, WWL, MacDonald, JR, Howe, JL, Vorstman, J, Sondheimer, N, Takahashi, N, Miles, JH, Anagnostou, E, Tammimies, K, Zarrei, M, Merico, D, Stavropoulos, DJ, Yuen, RKC, Fernandez, BA, Scherer, SW

المصدر: Nature communications. 13(1):6463

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151229801

المؤلفون: Tammimies, K, Marshall, CR, Walker, S, Kaur, G, Thiruvahindrapuram, B, Lionel, AC, Yuen, RKC, Uddin, M, Roberts, W, Weksberg, R, Woodbury-Smith, M, Zwaigenbaum, L, Anagnostou, E, Wang, ZZ, Wei, J, Howe, JL, Gazzellone, MJ, Lau, L, Sung, WWL, Whitten, K, Vardy, C, Crosbie, V, Tsang, B, D'Abate, L, Tong, WWL, Luscombe, S, Doyle, T, Carter, MT, Szatmari, P, Stuckless, S, Merico, D, Stavropoulos, DJ, Scherer, SW, Fernandez, BA

المصدر: JAMA. 314(9):895-903

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131884881

المؤلفون: 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.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Higginbotham EJ; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Thapa R; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada., Behlim T; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Aimola S; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada., Switzer L; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada., Ng P; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Wei J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Danthi PS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Pellecchia G; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Lamoureux S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Ho K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Pereira SL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., de Rijke J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Sung WWL; 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., Mowjoodi A; 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., Howe JL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Nalpathamkalam T; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Manshaei R; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, Ontario, Canada., Ghaffari S; 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., Whitney J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Patel RV; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Hamdan O; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Shaath R; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Trost B; 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., Knights S; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Grandview Children's Centre, Oshawa, Ontario, Canada., Samdup D; Department of Pediatrics, Queen's University, Kingston, Ontario, Canada., McCormick A; Children's Hospital of Eastern Ontario and University of Ottawa, Ottawa, Ontario, Canada., Hunt C; Grandview Children's Centre, Oshawa, Ontario, Canada., Kirton A; Department of Pediatrics, Department of Clinical Neuroscience, University of Calgary, Calgary, Alberta, Canada., Kawamura A; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Mesterman R; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada., Gorter JW; 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.

المصدر: Nature genetics [Nat Genet] 2024 Apr; Vol. 56 (4), pp. 585-594. Date of Electronic Publication: 2024 Mar 29.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: DNA Copy Number Variations*/genetics , Cerebral Palsy*/genetics, Humans ; Child ; Mutation ; Whole Genome Sequencing ; Genomics

المؤلفون: Sjaarda CP; Division of Microbiology, Kingston Health Sciences Centre, Kingston, Ontario, Canada.; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada., Lau L; Hospital for Sick Children, Toronto, Ontario, Canada., Simpson JT; Ontario Institute for Cancer Research, Toronto General Hospital, Toronto, Ontario, Canada.; Department of Molecular Genetics, Department of Computer Science, University of Toronto, Toronto, Ontario, Canada., Fattouh R; Department of Laboratory Medicine and Pathobiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada., Biondi MJ; School of Nursing, York University, Toronto, Ontario, Canada., Maguire F; Shared Hospital Laboratory, Toronto, Ontario, Canada., Campigotto A; Hospital for Sick Children, Toronto, Ontario, Canada., Feng Y; Laboratory Medicine and Molecular Diagnostics, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada., Tozer K; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada., Wong H; Division of Microbiology, Kingston Health Sciences Centre, Kingston, Ontario, Canada.; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada., Sung WWL; Hospital for Sick Children, Toronto, Ontario, Canada., Kim S; Hospital for Sick Children, Toronto, Ontario, Canada., Marshall CR; Hospital for Sick Children, Toronto, Ontario, Canada., Sheth PM; Division of Microbiology, Kingston Health Sciences Centre, Kingston, Ontario, Canada.; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada., Kozak R; Department of Laboratory Medicine and Pathobiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Shared Hospital Laboratory, Toronto, Ontario, Canada.; Laboratory Medicine and Molecular Diagnostics, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.

المصدر: JAMA network open [JAMA Netw Open] 2023 Jul 03; Vol. 6 (7), pp. e2324963. Date of Electronic Publication: 2023 Jul 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

مواضيع طبية MeSH: SARS-CoV-2*/genetics , COVID-19*/epidemiology, Humans ; Ontario/epidemiology ; Ritonavir/therapeutic use ; Prevalence ; Cohort Studies ; Retrospective Studies ; Antiviral Agents/pharmacology ; Antiviral Agents/therapeutic use ; COVID-19 Drug Treatment

SCR Organism: SARS-CoV-2 variants

المؤلفون: 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.

المصدر: Cell [Cell] 2022 Nov 10; Vol. 185 (23), pp. 4409-4427.e18.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: 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

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Autistic Disorder*, Humans ; Genetic Predisposition to Disease ; DNA Copy Number Variations/genetics ; Genomics

المؤلفون: Mastromatteo S; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Chen A; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Gong J; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Lin F; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Thiruvahindrapuram B; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Sung WWL; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Whitney J; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Wang Z; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Patel RV; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Keenan K; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Halevy A; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Panjwani N; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Avolio J; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Wang C; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Côté-Maurais G; Centre de recherche du centre hospitalier de l'Université de Montréal (CRCHUM), Montréal, QC, Canada., Bégin S; Centre de recherche du centre hospitalier de l'Université de Montréal (CRCHUM), Montréal, QC, Canada., Adam D; Centre de recherche du centre hospitalier de l'Université de Montréal (CRCHUM), Montréal, QC, Canada.; Department of Medicine, Faculty of Medicine, Université de Montréal, Montréal, QC, Canada., Brochiero E; Centre de recherche du centre hospitalier de l'Université de Montréal (CRCHUM), Montréal, QC, Canada.; Department of Medicine, Faculty of Medicine, Université de Montréal, Montréal, QC, Canada., Bjornson C; Alberta Children's Hospital, Calgary, AB, Canada., Chilvers M; British Columbia Children's Hospital, Vancouver, BC, Canada., Price A; The Children's Hospital, London Health Science Centre, London, ON, Canada., Parkins M; University of Calgary, Department of Medicine, Calgary, AB, Canada., van Wylick R; Kingston Health Sciences Centre, Kingston, ON, Canada., Mateos-Corral D; IWK Health Centre, Halifax, NS, Canada., Hughes D; IWK Health Centre, Halifax, NS, Canada., Smith MJ; Memorial University of Newfoundland, Faculty of Medicine, St. John's, NL, Canada., Morrison N; Queen Elizabeth II Health Sciences Centre, Halifax, NS, Canada., Tullis E; St. Michael's Hospital, Toronto, ON, Canada., Stephenson AL; St. Michael's Hospital, Toronto, ON, Canada., Wilcox P; St. Paul's Hospital, Vancouver, BC, Canada., Quon BS; St. Paul's Hospital, Vancouver, BC, Canada., Leung WM; University of Alberta Hospital, Edmonton, AB, Canada., Solomon M; Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Sun L; Department of Statistical Sciences, University of Toronto, Toronto, ON, Canada.; Biostatistics Division, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada., Ratjen F; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada., Strug LJ; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Statistical Sciences, University of Toronto, Toronto, ON, Canada.; Biostatistics Division, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.; Department of Computer Science, University of Toronto, Toronto, ON, Canada.

المصدر: HGG advances [HGG Adv] 2022 Oct 20; Vol. 4 (1), pp. 100156. Date of Electronic Publication: 2022 Oct 20 (Print Publication: 2023).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv

مواضيع طبية MeSH: Cystic Fibrosis*/genetics , Meconium Ileus*/complications , Intestinal Obstruction*/complications, Infant, Newborn ; Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Meconium ; Trypsin ; Trypsinogen/genetics

المؤلفون: Lesurf R; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Said A; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Akinrinade O; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; St. George's University School of Medicine, Grenada, Grenada., Breckpot J; Department of Human Genetics, UZ Leuven, Leuven, Belgium., Delfosse K; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Liu T; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Yao R; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Persad G; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., McKenna F; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Noche RR; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Zebrafish Genetics and Disease Models Core, The Hospital for Sick Children, Toronto, ON, Canada., Oliveros W; Life Sciences Department, Barcelona Supercomputing Center, Barcelona, Catalonia, Spain., Mattioli K; Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, USA., Shah S; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Miron A; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Yang Q; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Meng G; Developmental and Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Yue MCS; Princess Margaret Cancer Center, University Health Network, Toronto, ON, Canada., Sung WWL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Lougheed J; Division of Cardiology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Oechslin E; Peter Munk Cardiac Centre, Division of Cardiology, Toronto General Hospital, University of Toronto, Toronto, ON, Canada., Mondal T; Department of Pediatrics, Hamilton Health Sciences Centre, Hamilton, ON, Canada., Bergin L; Division of Cardiology, London Health Sciences Centre, London, ON, Canada., Smythe J; Department of Pediatrics, Kingston General Hospital, Kingston, ON, Canada., Jayappa S; Cardiovascular Biology and Disease Theme, Institute for Stem Cell Science and Regenerative Medicine, Bangalore (inStem), Bangalore, India., Rao VJ; Cardiovascular Biology and Disease Theme, Institute for Stem Cell Science and Regenerative Medicine, Bangalore (inStem), Bangalore, India., Shenthar J; Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bengaluru, India., Dhandapany PS; Cardiovascular Biology and Disease Theme, Institute for Stem Cell Science and Regenerative Medicine, Bangalore (inStem), Bangalore, India., Semsarian C; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia., Weintraub RG; Cardiology Department, Royal Children's Hospital, Melbourne, Australia.; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Bagnall RD; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia., Ingles J; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.; Cardio Genomics Program at Centenary Institute, The University of Sydney, Sydney, Australia., Melé M; Life Sciences Department, Barcelona Supercomputing Center, Barcelona, Catalonia, Spain., Maass PG; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Ellis J; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Developmental and Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Scherer SW; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; McLaughlin Centre, University of Toronto, Toronto, ON, Canada., Mital S; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. seema.mital@sickkids.ca.; Ted Rogers Centre for Heart Research, Toronto, ON, Canada. seema.mital@sickkids.ca.; Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. seema.mital@sickkids.ca.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: NPJ genomic medicine [NPJ Genom Med] 2022 Mar 14; Vol. 7 (1), pp. 18. Date of Electronic Publication: 2022 Mar 14.

نوع المنشور: Journal Article

بيانات الدورية: 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

المؤلفون: Reuter MS; CGEn (M.S.R.), The Hospital for Sick Children, Toronto, ON, Canada.; Center for Applied Genomics (M.S.R., G.P., O.H., W.W.L.S., T.N., C.R.M., B.T., S.W.S.), The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology (M.S.R., S.W.S.), The Hospital for Sick Children, Toronto, ON, Canada., Chaturvedi RR; Labatt Family Heart Center (R.R.C., R.M.W.), The Hospital for Sick Children, Toronto, ON, Canada.; Ted Rogers Center for Heart Research, Cardiac Genome Clinic (R.R.C., R.K.J.), The Hospital for Sick Children, Toronto, ON, Canada.; Ontario Fetal Center, Mount Sinai Hospital, Toronto, ON, Canada (R.R.C.)., Jobling RK; Ted Rogers Center for Heart Research, Cardiac Genome Clinic (R.R.C., R.K.J.), The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics (R.K.J.), The Hospital for Sick Children, Toronto, ON, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine (R.K.J., C.R.M.), The Hospital for Sick Children, Toronto, ON, Canada., Pellecchia G; Center for Applied Genomics (M.S.R., G.P., O.H., W.W.L.S., T.N., C.R.M., B.T., S.W.S.), The Hospital for Sick Children, Toronto, ON, Canada., Hamdan O; Center for Applied Genomics (M.S.R., G.P., O.H., W.W.L.S., T.N., C.R.M., B.T., S.W.S.), The Hospital for Sick Children, Toronto, ON, Canada., Sung WWL; Center for Applied Genomics (M.S.R., G.P., O.H., W.W.L.S., T.N., C.R.M., B.T., S.W.S.), The Hospital for Sick Children, Toronto, ON, Canada., Nalpathamkalam T; Center for Applied Genomics (M.S.R., G.P., O.H., W.W.L.S., T.N., C.R.M., B.T., S.W.S.), The Hospital for Sick Children, Toronto, ON, Canada., Attaluri P; Medical Genomics Program, Department of Molecular Genetics (P.A.), University of Toronto., Silversides CK; Division of Cardiology, Department of Medicine, Toronto Congenital Cardiac Center for Adults at the Peter Munk Cardiac Center (C.K.S., R.M.W., A.S.B.), and Toronto General Research Institute, University Health Network, ON, Canada., Wald RM; Labatt Family Heart Center (R.R.C., R.M.W.), The Hospital for Sick Children, Toronto, ON, Canada.; Division of Cardiology, Department of Medicine, Toronto Congenital Cardiac Center for Adults at the Peter Munk Cardiac Center (C.K.S., R.M.W., A.S.B.), and Toronto General Research Institute, University Health Network, ON, Canada., Marshall CR; Center for Applied Genomics (M.S.R., G.P., O.H., W.W.L.S., T.N., C.R.M., B.T., S.W.S.), The Hospital for Sick Children, Toronto, ON, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine (R.K.J., C.R.M.), The Hospital for Sick Children, Toronto, ON, Canada.; Laboratory Medicine and Pathobiology (C.R.M.), University of Toronto., Williams SG; Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom (S.G.W., B.D.K.).; Manchester University NHS Foundation Trust, Manchester Academic Health Science Center, United Kingdom (S.G.W., B.D.K.)., Keavney BD; Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom (S.G.W., B.D.K.).; Manchester University NHS Foundation Trust, Manchester Academic Health Science Center, United Kingdom (S.G.W., B.D.K.)., Thiruvahindrapuram B; Center for Applied Genomics (M.S.R., G.P., O.H., W.W.L.S., T.N., C.R.M., B.T., S.W.S.), The Hospital for Sick Children, Toronto, ON, Canada., Scherer SW; Center for Applied Genomics (M.S.R., G.P., O.H., W.W.L.S., T.N., C.R.M., B.T., S.W.S.), The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology (M.S.R., S.W.S.), The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics (S.W.S.), University of Toronto.; McLaughlin Center (S.W.S.), University of Toronto., Bassett AS; Department of Psychiatry (A.S.B.), University of Toronto.; Division of Cardiology, Department of Medicine, Toronto Congenital Cardiac Center for Adults at the Peter Munk Cardiac Center (C.K.S., R.M.W., A.S.B.), and Toronto General Research Institute, University Health Network, ON, Canada.; Department of Psychiatry, The Dalglish Family 22q Clinic for Adults With 22q11.2 Deletion Syndrome (A.S.B.), and Toronto General Research Institute, University Health Network, ON, Canada.; Clinical Genetics Research Program, Center for Addiction and Mental Health, University of Toronto, Toronto, ON, Canada (A.S.B.).

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2021 Aug; Vol. 14 (4), pp. e003410. Date of Electronic Publication: 2021 Jul 30.

نوع المنشور: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Protein Interaction Maps*, Tetralogy of Fallot/*genetics, Female ; Genome-Wide Association Study ; Humans ; Infant, Newborn ; Male ; Exome Sequencing

المؤلفون: Begum G; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates., Albanna A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates.; Department of Psychiatry, Al Jalila Children's Specialty Hospital, Dubai 7662, United Arab Emirates., Bankapur A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates., Nassir N; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates., Tambi R; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates., Berdiev BK; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates., Akter H; Genetics and Genomic Medicine Centre, NeuroGen Children's Healthcare, Dhaka 1205, Bangladesh.; Department of Biochemistry and Molecular Biology, Dhaka University, Dhaka 1000, Bangladesh., Karuvantevida N; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates.; Department of Biotechnology, Bharathidasan University, Tiruchirappalli 620024, India., Kellam B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5S 1A1, Canada., Alhashmi D; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates., Sung WWL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5S 1A1, Canada., Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5S 1A1, Canada., Alsheikh-Ali A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5S 1A1, Canada.; Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S, Canada., Uddin M; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2021 Feb 19; Vol. 22 (4). Date of Electronic Publication: 2021 Feb 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Human* , Genomic Structural Variation* , High-Throughput Nucleotide Sequencing*, DNA, Intergenic/*genetics, Female ; Humans ; Male ; Nanopore Sequencing ; Pedigree ; Twins, Monozygotic/genetics

المؤلفون: Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Walker S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada., Marano M; Division of Paediatric Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Veenma D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Snell M; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Curtis M; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Luca S; Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada., Buera J; Division of Paediatric Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Arje D; Division of Paediatric Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada., Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Trost B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Sung WWL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Yuen RKC; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada., Stavropoulos DJ; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Paediatric Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Marshall CR; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada., Cohn RD; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Paediatric Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada., Cohen E; Division of Paediatric Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.; Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, Ontario, Canada., Orkin J; Division of Paediatric Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada., Meyn MS; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.; Center for Human Genomics and Precision Medicine, University of Wisconsin, Madison., Hayeems RZ; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.

المصدر: JAMA network open [JAMA Netw Open] 2020 Sep 01; Vol. 3 (9), pp. e2018109. Date of Electronic Publication: 2020 Sep 01.

نوع المنشور: Comparative Study; Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Testing/*statistics & numerical data , Somatoform Disorders/*diagnosis , Whole Genome Sequencing/*statistics & numerical data, Canada ; Child ; Child, Preschool ; Female ; Humans ; Male ; Predictive Value of Tests ; Prospective Studies ; Reproducibility of Results