Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Autor: 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.

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

Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.

Autor: Mušálková D; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Přistoupilová A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Jedličková I; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Trešlová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Hodaňová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Bittmanová P; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Jiřička V; Department of Psychology, Prison Service of the Czech Republic, Prague, Czech Republic.; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic., Langmajerová M; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic., Woodbury-Smith M; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Zarrei M; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Trost B; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Scherer SW; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada., Bleyer AJ; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Vevera J; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.; Department of Psychiatry, University Hospital Pilsen, Pilsen, Czech Republic., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.

Publikováno v: Genes, brain, and behavior [Genes Brain Behav] 2024 Feb; Vol. 23 (1), pp. e12882.

The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.

Autor: Woodbury-Smith M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada marc.woodbury-smith@newcastle.ac.uk.; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., D'Abate L; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Stavropoulos DJ; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genome Diagnostics, Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada., Howe J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Drmic I; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Ron Joyce Children's Health Centre, Autism Spectrum Disorder (ASD) Program and Child and Youth Mental Health Program, McMaster Autism Research Team, McMaster University, Hamilton, Hamilton, Ontario, Canada., Hoang N; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada., Zarrei M; 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., Iaboni A; Autism Research Centre, Holland Bloorview Kids Rehabilitation Centre, Toronto, Ontario, Canada., Anagnostou E; Autism Research Centre, Holland Bloorview Kids Rehabilitation Centre, Toronto, Ontario, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.

Publikováno v: Journal of medical genetics [J Med Genet] 2023 Nov 27; Vol. 60 (12), pp. 1153-1160. Date of Electronic Publication: 2023 Nov 27.

Molecular systematics of Gagea and Lloydia (Liliaceae; Liliales): implications of analyses of nuclear ribosomal and plastid DNA sequences for infrageneric classification

Autor: Zarrei, M., Wilkin, P., Fay, M. F., Ingrouille, M. J., Zarre, S., Chase, M. W.

Publikováno v: Annals of Botany, 2009 Jul 01. 104(1), 125-142.

Externí odkaz: https://www.jstor.org/stable/43576268

Gene copy number variation and pediatric mental health/neurodevelopment in a general population.

Autor: Zarrei M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada., Burton CL; Neurosciences and Mental Health 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.; Program in Genetics and Genome Biology, 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.; Program in Genetics and Genome Biology, 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., Shaikh S; Neurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Roslin NM; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.; Neurosciences and Mental Health Program, 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., Pellecchia G; 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., Lamoureux S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Manshaei R; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Howe J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Trost B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Program in Genetics and Genome Biology, 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., Marshall CR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada., Yuen RKC; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Program in Genetics and Genome Biology, 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., Strug LJ; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.; Departments of Statistical Sciences, Computer Science and Biostatistics, University of Toronto, Toronto, ON M5G 1Z5, Canada., Stavropoulos DJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Vorstman JAS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada.; Autism Research Unit, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Arnold P; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.; Mathison Centre for Mental Health Research and Education, University of Calgary, Calgary, AB T2N 1N4, Canada.; Departments of Psychiatry & Medical Genetics, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada., Merico D; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Deep Genomics Inc., Toronto, ON M5G 1M1, Canada., Woodbury-Smith M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE1 7RU, UK., Crosbie J; Neurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada., Schachar RJ; Neurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON M5S 1A8, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.; Department of Molecular Genetics, McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A8, Canada.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Jul 20; Vol. 32 (15), pp. 2411-2421.