المؤلفون: Kelsey, L, Flenniken, AM, Qu, D, Funnell, APW, Pearson, R, Zhou, YQ, Voronina, I, Berberovic, Z, Wood, G, Newbigging, S, Weiss, ES, Wong, M, Quach, I, Yeh, SYS, Deshwar, AR, Scott, IC, McKerlie, C, Henkelman, M, Backx, P, Simpson, J, Osborne, L, Rossant, J, Crossley, M, Bruneau, B, Adamson, SL

مصطلحات الفهرس: 0604 Genetics, text, Journal Article, Journal Article

URL: http://handle.unsw.edu.au/1959.4/unsworks_49812
https://orcid.org/0000-0003-2057-3642
https://orcid.org/0000-0003-2057-3642
PLoS Genetics, 9, 7

المؤلفون: Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada. Electronic address: thartley@cheo.on.ca., Marshall D; University of Calgary, Calgary, Canada., Acker M; Hospital for Sick Children, Toronto, Canada., Fooks K; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Gillespie MK; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Price EM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Graham ID; University of Ottawa, Ottawa, Canada; Ottawa Hospital Research Institute, Ottawa, Canada., White-Brown A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., MacKay L; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Macdonald SK; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Brady L; McMaster Children's Hospital, McMaster University, Hamilton, Canada., Hui AY; Kingston Health Sciences Center, Queen's University, Kingston, Canada., Andrews JD; London Health Sciences Centre, Western University, London, Canada., Chowdhury A; London Health Sciences Centre, Western University, London, Canada., Wall E; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Soubry É; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Ediae GU; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Rojas S; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Assamad D; University of Toronto, Toronto, Canada., Dyment D; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Tarnopolsky M; McMaster Children's Hospital, McMaster University, Hamilton, Canada., Sawyer SL; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Chisholm C; Children's Hospital of Eastern Ontario, Ottawa, Canada., Lemire G; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada., Amburgey K; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Lazier J; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Mendoza-Londono R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Dowling JJ; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Balci TB; London Health Sciences Centre, Western University, London, Canada., Armour CM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Bhola PT; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Costain G; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Dupuis L; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Carter M; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Badalato L; Kingston Health Sciences Center, Queen's University, Kingston, Canada., Richer J; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Boswell-Patterson C; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Kannu P; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada; The Ottawa Hospital, Ottawa, Canada., Cordeiro D; University of Toronto, Toronto, Canada., Warman-Chardon J; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada; Ottawa Hospital Research Institute, Ottawa, Canada; University of Alberta, Edmonton, Alberta, Canada., Graham G; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Siu VM; London Health Sciences Centre, Western University, London, Canada., Cytrynbaum C; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Rusnak A; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada; Kingston Health Sciences Center, Queen's University, Kingston, Canada., Aul RB; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Yoon G; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Gonorazky H; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., McNiven V; University of Toronto, Toronto, Canada., Mercimek-Andrews S; University of Toronto, Toronto, Canada; University of Toronto, Toronto, Canada., Guerin A; Kingston Health Sciences Center, Queen's University, Kingston, Canada., Deshwar AR; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Marwaha A; University of Calgary, Calgary, Canada; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada; The Ottawa Hospital, Ottawa, Canada., Weksberg R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Karp N; London Health Sciences Centre, Western University, London, Canada., Campbell M; Kingston Health Sciences Center, Queen's University, Kingston, Canada., Al-Qattan S; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Shuen AY; University of Toronto, Toronto, Canada; McMaster Children's Hospital, McMaster University, Hamilton, Canada; London Health Sciences Centre, Western University, London, Canada., Inbar-Feigenberg M; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Cohn R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Szuto A; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Inglese C; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Poirier M; Children's Hospital of Eastern Ontario, Ottawa, Canada., Chad L; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Potter B; University of Ottawa, Ottawa, Canada; Ottawa Hospital Research Institute, Ottawa, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Hayeems R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada. Electronic address: robin.hayeems@sickkids.ca.

مؤلفون مشاركون: Care4Rare Canada Consortium

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Feb; Vol. 26 (2), pp. 101012. Date of Electronic Publication: 2023 Nov 01.

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

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

مواضيع طبية MeSH: Rare Diseases*/diagnosis , Rare Diseases*/genetics , Exome*, Humans ; Prospective Studies ; Exome Sequencing ; Genetic Testing/methods ; Ontario

المؤلفون: Nil Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Huang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Barish S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Zhang X; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410005, China., Choufani S; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Le Quesne Stabej P; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, the University of Auckland, Auckland, New Zealand., Hayes I; Genetic Health Service New Zealand- Northern Hub, Auckland District Health Board, Auckland, New Zealand., Yap P; Genetic Health Service New Zealand- Northern Hub, Auckland District Health Board, Auckland, New Zealand., Haldeman-Englert C; Mission Fullerton Genetics Center, Asheville, NC 28803, USA., Wilson C; Mission Fullerton Genetics Center, Asheville, NC 28803, USA., Prescott T; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Vøllo A; Department of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway., Haynes D; Division of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, FL, USA; Clinical Genetics Service, Guy's Hospital, Guy's and St Thomas' NHS Trust, London, England, UK., Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, FL, USA., Zon J; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Jobling R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Blyth M; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, M13 9WL Manchester, UK., Afenjar A; Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, Paris, France., Mignot C; Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, Paris, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Robin-Renaldo F; AP-HP, Sorbonne Université, Service de Neurpoédiatrie, Hôpital Trousseau, Paris, France., Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, 75013 Paris, France., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Mao X; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410005, China; Clinical Research Center for Placental Medicine in Hunan Province, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410005, China., Wegner DJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA., Sisco K; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA., Shinawi M; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Weksberg R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA., Costain G; Division of Clinical and Metabolic Genetics, 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, University of Toronto, Toronto, ON, Canada. Electronic address: gregory.costain@sickkids.ca., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.

مؤلفون مشاركون: Undiagnosed Disease Network

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Nov 02; Vol. 110 (11), pp. 1919-1937. Date of Electronic Publication: 2023 Oct 11.

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

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

مواضيع طبية MeSH: Histone-Lysine N-Methyltransferase*/genetics , Developmental Disabilities*/genetics , Congenital Abnormalities*/genetics, Humans ; Gain of Function Mutation ; Histones/genetics ; Histones/metabolism ; Lysine ; Methylation ; Methyltransferases/genetics ; Neoplasms/genetics ; Drosophila/genetics ; Drosophila Proteins/genetics

المؤلفون: Karolczak S; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, The University of Toronto, Toronto, Ontario, Canada., Deshwar AR; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics and., Aristegui E; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Kamath BM; Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada., Lawlor MW; Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Translational Science Laboratory, Milwaukee, Wisconsin, USA., Andreoletti G; Astellas Gene Therapies, San Francisco, California, USA., Volpatti J; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Ellis JL; Division of Gastroenterology, Hepatology and Nutrition and Division of Developmental Biology and., Yin C; Division of Gastroenterology, Hepatology and Nutrition and Division of Developmental Biology and.; Center for Undiagnosed and Rare Liver Diseases, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Dowling JJ; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, The University of Toronto, Toronto, Ontario, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.

المصدر: The Journal of clinical investigation [J Clin Invest] 2023 Sep 15; Vol. 133 (18). Date of Electronic Publication: 2023 Sep 15.

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

بيانات الدورية: 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

مواضيع طبية MeSH: Myopathies, Structural, Congenital*/genetics , Myopathies, Structural, Congenital*/therapy , Myopathies, Structural, Congenital*/pathology , Zebrafish*/genetics , Zebrafish*/metabolism, Animals ; Humans ; Disease Models, Animal ; Membrane Transport Proteins/metabolism ; Muscle, Skeletal/metabolism ; Mutation ; Protein Tyrosine Phosphatases, Non-Receptor/genetics

المؤلفون: Smits DJ; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands., Schot R; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands., Krusy N; GIGA-Stem Cells/Neurosciences, University of Liège, CHU Sart Tilman, B-4000 Liège, Belgium., Wiegmann K; Institute for Medical Microbiology, Immunology, and Hygiene, University Hospital Cologne, Center for Molecular Medicine Cologne, University of Cologne, Colgne 50935, Germany., Utermöhlen O; Institute for Medical Microbiology, Immunology, and Hygiene, University Hospital Cologne, Center for Molecular Medicine Cologne, University of Cologne, Colgne 50935, Germany., Mulder MT; Department of Internal Medicine, ErasmusMC University Medical Center Rotterdam, Rotterdam, The Netherlands., den Hoedt S; Department of Internal Medicine, ErasmusMC University Medical Center Rotterdam, Rotterdam, The Netherlands., Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada., Deshwar AR; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada., Kresge C; Department of Genetics, Rutgers New Jersey Medical School, Newark, NJ, USA., Pletcher B; Department of Genetics, Rutgers New Jersey Medical School, Newark, NJ, USA., van Mook M; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands., Ferreira MS; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands., Poot RA; Department of Cell Biology, ErasmusMC University Medical Center Rotterdam, Rotterdam, The Netherlands., Slotman JA; Department of Pathology, Optical Imaging Center, ErasmusMC University Medical Center Rotterdam, Rotterdam, The Netherlands., Kremers GJ; Department of Pathology, Optical Imaging Center, ErasmusMC University Medical Center Rotterdam, Rotterdam, The Netherlands., Ahmad A; Pediatric Endocrinology Unit, Department of Pediatrics, Adan Hospital, Hadiya 52700, Kuwait., Albash B; Department of Pediatrics, Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat 80901, Kuwait., Bastaki L; Department of Pediatrics, Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat 80901, Kuwait., Marafi D; Department of Pediatrics, Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat 80901, Kuwait.; Section of Child Neurology, Department of Pediatrics, Adan Hospital, Hadiya 52700, Kuwait.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat 13110, Kuwait., Dekker J; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands., van Ham TJ; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands., Nguyen L; GIGA-Stem Cells/Neurosciences, University of Liège, CHU Sart Tilman, B-4000 Liège, Belgium., Mancini GMS; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands.

المصدر: Brain : a journal of neurology [Brain] 2023 Aug 01; Vol. 146 (8), pp. 3528-3541.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Microcephaly*/genetics , Microcephaly*/metabolism , Diabetes Mellitus*/metabolism, Humans ; Animals ; Mice ; Nuclear Envelope/chemistry ; Nuclear Envelope/metabolism ; Sphingomyelin Phosphodiesterase/analysis ; Sphingomyelin Phosphodiesterase/genetics ; Sphingomyelin Phosphodiesterase/metabolism ; Nuclear Pore/metabolism ; Mitosis

المؤلفون: Priestley JRC; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Murthy H; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., D'Agostino MD; Division of Medical Genetics, Departments of Specialized Medicine and Human Genetics, McGill University Health Center, Montreal, QC, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada., Gangaram B; Division of Medical Genetics, University of California San Francisco, San Francisco, CA., Gray C; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Jobling R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Pannia E; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Prescott K; Clinical Genetics, The Leeds Teaching Hospital NHS Trust, Leeds, West Yorkshire, United Kingdom., Redman M; Clinical Genetics, The Leeds Teaching Hospital NHS Trust, Leeds, West Yorkshire, United Kingdom., Rippert AL; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX., Wang YW; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada; Division of Medical Genetics, Departments of Specialized Medicine and Human Genetics, McGill University Health Center, Montreal, QC, Canada., Schmederer Z; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Medizinisch Genetisches Zentrum, Munich, Germany., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Sarma AS; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Skraban C; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Dowling JJ; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada., Slavotinek A; Division of Medical Genetics, University of California San Francisco, San Francisco, CA; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital, Cincinnati, OH., Bhoj EJ; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Electronic address: bhoje@chop.edu.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Aug; Vol. 25 (8), pp. 100863. Date of Electronic Publication: 2023 Apr 28.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

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

مواضيع طبية MeSH: Zebrafish*/genetics , Osteochondrodysplasias*, Animals ; Humans ; Retrospective Studies ; Cell Differentiation ; Osteogenesis/genetics ; Bone Morphogenetic Proteins ; Bone Morphogenetic Protein 2/genetics

المؤلفون: Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Murthy H; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Zon J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Volpatti J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8EG, UK., Ellard S; Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK., Allen HL; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, CB2 0SL, UK., Yu EP; Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Noche R; Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Walker S; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Scherer SW; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Mahida S; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Elitt CM; Fetal-Neonatal Neurology Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France., Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France., Dabaj I; Department of Neonatology and Pediatric Intensive Care-Pediatric Neurology, Rouen University Hospital, and INSERM U1245, Normandie University, UNIROUEN, 76000 Rouen, France., Meddaugh H; Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA 70118, USA., Marble M; Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA 70118, USA.; Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA., Keppler-Noreuil KM; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 53792, USA., Drayson L; Pediatric Specialists of Virginia, Fairfax, VA 22031, USA., Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MA 21287, USA., Chassevent A; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MA 21205, USA., Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, NY 55905, USA., Létard P; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France., Bilan F; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; EA3808 NEUVACOD, University of Poitiers, 86073 Poitiers, France., Le Guyader G; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; EA3808 NEUVACOD, University of Poitiers, 86073 Poitiers, France., Laquerrière A; Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Normandie Univeristy, UNIROUEN, INSERM U1245 and Rouen University Hospital, F76000 Rouen, France., Ramsey K; Translational Genomics Research Institute, Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA., Henderson L; GeneDx, Gaithersburg, MD 20877, USA., Brady L; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada., Tarnopolsky M; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada., Bainbridge M; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92093, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA., Capri Y; Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP) Hôpital Robert Debré, 75019 Paris, France., Athayde L; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil., Kok F; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil., Gurgel-Giannetti J; Department of Pediatrics, Federal University of Minas Gerais School of Medicine, Belo Horizonte - MG - CEP 31270-901, Brazil., Ramos LLP; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil., Blaser S; Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Dowling JJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G1X8, Canada.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada., Weksberg R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada.; Institutes of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada.

المصدر: Brain : a journal of neurology [Brain] 2023 Jun 01; Vol. 146 (6), pp. 2285-2297.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Microcephaly*/genetics, Animals ; Humans ; Claudin-5/genetics ; Claudin-5/metabolism ; Zebrafish/metabolism ; Blood-Brain Barrier/metabolism ; Seizures/genetics ; Syndrome

المؤلفون: Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada., Yuki KE; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada., Hou H; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada., Liang Y; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Khan T; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada., Celik A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Ramani A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada., Marshall CR; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Brudno M; Techna Institute for the Advancement of Technology for Health, University Health Network, Toronto, ON, Canada., Shlien A; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Meyn MS; Center for Human Genomics and Precision Medicine, University of Wisconsin, Madison, WI, USA; Department of Pediatrics, University of Wisconsin, Madison, WI, USA., Hayeems RZ; Child Health Evaluative Sciences, SickKids Research Institute, Toronto, ON, Canada., McKinlay BJ; Department of Kinesiology, Faculty of Applied Health Sciences, Brock University, St. Catharines, ON, Canada., Klentrou P; Department of Kinesiology, Faculty of Applied Health Sciences, Brock University, St. Catharines, ON, Canada., Wilson MD; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Kyriakopoulou L; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada. Electronic address: gregory.costain@sickkids.ca., Dowling JJ; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada. Electronic address: james.dowling@sickkids.ca.

المصدر: American journal of human genetics [Am J Hum Genet] 2023 May 04; Vol. 110 (5), pp. 895-900. Date of Electronic Publication: 2023 Mar 28.

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

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

مواضيع طبية MeSH: Family* , Rare Diseases*/genetics, Humans ; Child ; Base Sequence ; Sequence Analysis, DNA ; Exome Sequencing ; Sequence Analysis, RNA

المؤلفون: Oh RY; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Marwaha A; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada., Sabha N; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Tropak M; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Hou H; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Yuki KE; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Wilson MD; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Rump P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Lunsing R; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Elserafy N; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia., Chung CWT; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Hewson S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Klein-Rodewald T; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Calzada-Wack J; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Sanz-Moreno A; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Kraiger M; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Marschall S; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Fuchs H; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Gailus-Durner V; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Hrabe de Angelis M; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany; German Center for Diabetes Research (DZD), Ingolstaedter Landstraße, Neuherberg, Germany., Dowling J; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada., Schulze A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada; Departments of Paediatrics and Biochemistry, University of Toronto, Toronto, Ontario, Canada. Electronic address: andreas.schulze@sickkids.ca.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2399-2407. Date of Electronic Publication: 2022 Sep 09.

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

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

مواضيع طبية MeSH: Microcephaly*/genetics , Intellectual Disability*/genetics , Hydrocephalus* , Neurodevelopmental Disorders*/genetics, Animals ; Mice ; Female ; Humans ; Pedigree ; Syndrome ; Mice, Knockout ; TOR Serine-Threonine Kinases

المؤلفون: Joynt ACM; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Deshwar AR; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Zon J; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Wherrett DK; Division of Endocrinology, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1821. Date of Electronic Publication: 2021 Oct 08.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Brain*/diagnostic imaging , Brain*/pathology , Chromosome Disorders*/diagnosis , Growth Hormone*/deficiency , Translocation, Genetic*, Chromosome Deletion ; Chromosomes, Human, Pair 13/genetics ; Chromosomes, Human, Pair 5/genetics ; Female ; Humans ; Trisomy

SCR Disease Name: 13q deletion syndrome