International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Autor: Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: kboycott@cheo.on.ca., Rath A; Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France., Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Alkuraya FS; Department of Genetics, King Faisal Research Center, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia., Baynam G; Genetic Services of Western Australia, Perth, WA 6008, Australia., Brookes AJ; Department of Genetics, University of Leicester, Leicester LE1 7RH, UK., Brudno M; Department of Computer Science, University of Toronto, Toronto M5S 1A1, Canada., Carracedo A; Genomic Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, 15782 Santiago de Compostela, Spain., den Dunnen JT; Departments of Human Genetics and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands., Dyke SOM; Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC H3A 1A4, Canada., Estivill X; Experimental Division, Sidra Medical and Research Center, PO Box 26999, Doha, Qatar; Genetics Unit, Dexeus Woman's Health, 08028 Barcelona, Spain., Goldblatt J; Genetic Services of Western Australia, Perth, WA 6008, Australia., Gonthier C; Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France., Groft SC; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892-4874, USA., Gut I; Centre Nacional d'Anàlisi Genòmica, Center for Genomic Regulation, Barcelona Institute of Science and Technology, Universitat Pompeu Fabra, 08028 Barcelona, Spain., Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21286, USA., Hieter P; Michael Smith Laboratories, Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada., Höhn S; Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France., Hurles ME; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK., Kaufmann P; Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892-4874, USA., Knoppers BM; Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC H3A 1A4, Canada., Krischer JP; University of South Florida Health Informatics Institute, Tampa, FL 33620, USA., Macek M Jr; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, 150 06 Prague 5, Czech Republic., Matthijs G; Center for Human Genetics, University of Leuven, 3000 Leuven, Belgium., Olry A; Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France., Parker S; Lysogene, 92 200 Neuilly-sur-Seine, France., Paschall J; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK., Philippakis AA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Rehm HL; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Robinson PN; Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmdizin Berlin, 13353 Berlin, Germany; Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Sham PC; Centre for Genomic Sciences, University of Hong Kong, Hong Kong, China., Stefanov R; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv 4002, Bulgaria., Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome 299-00161, Italy., Unni D; Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France., Vanstone MR; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Zhang F; WuXi AppTec, Waigaoqiao Free Trade Zone, Shanghai 200131, China; WuXi NextCODE, Cambridge, MA 02142, USA., Brunner H; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, 6229 GT Maastricht, the Netherlands., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA., Lochmüller H; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2017 May 04; Vol. 100 (5), pp. 695-705.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Autor: Huang L; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Vanstone MR; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Hartley T; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Osmond M; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Barrowman N; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada., Allanson J; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Baker L; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware., Dabir TA; Clinical Genetics Department, Belfast City Hospital, Belfast, UK., Dipple KM; Department of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California., Dobyns WB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Estrella J; Department of Medical Genetics, Westmead Hospital, Sydney, Australia., Faghfoury H; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Favaro FP; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil., Goel H; Hunter Genetics, Newcastle, Waratah, Australia.; University of Newcastle, Newcastle - School of Medicine and Public Health, Faculty of Health, Callaghan, Australia., Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Gripp KW; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware., Grix A; Department of Genetics, Permanente Medical Group, Roseville, California., Guion-Almeida ML; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil., Harr MH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; The Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania., Hudson C; Shodair Children's Hospital, Helena, Montana., Hunter AG; Medical Geneticist, Ottawa, Ontario, Canada., Johnson J; Shodair Children's Hospital, Helena, Montana.; Clinical Genetics and Metabolism, Floating Hospital for Children, Tufts Medical Center, Boston, Massachusetts., Joss SK; West of Scotland Clinical Genetics Service, South Glasgow University Hospital, Glasgow, UK., Kimball A; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland., Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK., Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland., Lauzon J; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Lildballe DL; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., López-González V; Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, Spain.; Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Martinezmoles J; Department of Genetics, Sacramento Medical Center, Sacramento, California., Meldrum C; NSW Health Pathology, Newcastle, Australia., Mirzaa GM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Morel CF; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Morton JE; West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK., Pyle LC; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania., Quintero-Rivera F; Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, California., Richer J; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Scheuerle AE; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas., Schönewolf-Greulich B; Genetic Counselling Clinic Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Shears DJ; Oxford Regional Genetics Service, The Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK., Silver J; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Smith AC; Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Temple IK; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK., van de Kamp JM; Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands., van Dijk FS; Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands., Vandersteen AM; Maritime Medical Genetics Service, IWKHealth Centre, Halifax, Nova Scotia, Canada., White SM; Victoria Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania., Zou R; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Bulman DE; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, The Children's Hospital of Eastern Ontario, Ottawa, Canada., Boycott KM; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Lines MA; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Metabolics and Newborn Screening, Department of Pediatrics, The Children's Hospital of Eastern Ontario, Ottawa, Canada.

Publikováno v: Human mutation [Hum Mutat] 2016 Feb; Vol. 37 (2), pp. 148-54. Date of Electronic Publication: 2015 Nov 19.

Neuropathologic features of pontocerebellar hypoplasia type 6.

Autor: Joseph JT; From the Calgary Laboratory Services (JTJ) and Alberta Children's Hospital Foundation Research Institute for Child and Maternal Health, Department of Medical Genetics (AMI), University of Calgary, Calgary, Alberta; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario (ACS, MRV, FCC, DEB, JMichaud, KMB); and McGill University and Genome Quebec Innovation Center, Montreal, Quebec (JAS, JMajewski), Canada; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington (RFH, RAD); and Department of Neurological Surgery, University of Washington, Seattle, Washington (RFH)., Innes AM, Smith AC, Vanstone MR, Schwartzentruber JA, Bulman DE, Majewski J, Daza RA, Hevner RF, Michaud J, Boycott KM

Publikováno v: Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2014 Nov; Vol. 73 (11), pp. 1009-25.

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.

Autor: Boycott KM; Department of Pediatrics, University of Ottawa and Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, Ontario K1H 8L1, Canada., Vanstone MR, Bulman DE, MacKenzie AE

Publikováno v: Nature reviews. Genetics [Nat Rev Genet] 2013 Oct; Vol. 14 (10), pp. 681-91. Date of Electronic Publication: 2013 Sep 03.