Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.

Autor: Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel. basel@post.tau.ac.il.; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel. basel@post.tau.ac.il.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. basel@post.tau.ac.il.; Felsenstein Medical Research Center, Petach Tikva, Israel. basel@post.tau.ac.il., Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel., Markus-Bustani K; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Ruhrman-Shahar N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Kilim Y; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Magal N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Hubshman MW; Baylor College of Medicine, Houston, TX, USA., Bazak L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jun; Vol. 21 (6), pp. 1443-1451. Date of Electronic Publication: 2018 Oct 31.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Autor: Redin C; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Brand H; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Collins RL; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, Massachusetts, USA., Kammin T; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Mitchell E; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Hodge JC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Department of Pediatrics, University of California, Los Angeles, Los Angeles, California, USA., Hanscom C; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Pillalamarri V; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Seabra CM; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; GABBA Program, University of Porto, Porto, Portugal., Abbott MA; Medical Genetics, Baystate Medical Center, Springfield, Massachusetts, USA., Abdul-Rahman OA; Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA., Aberg E; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Adley R; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Alcaraz-Estrada SL; Medical Genomics Division, Centro Medico Nacional 20 de Noviembre, ISSSTE, Mexico City, Mexico., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., An Y; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Institutes of Biomedical Sciences (IBS) of Shanghai Medical School and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China., Anderson MA; Center for Human Genetic Research DNA and Tissue Culture Resource, Boston, Massachusetts, USA., Antolik C; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Anyane-Yeboa K; Division of Clinical Genetics, Columbia University Medical Center, New York, New York, USA., Atkin JF; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, Ohio, USA., Bartell T; Department of Genetics, Kaiser Permanente, Sacramento, California, USA., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Beyer E; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA., Blumenthal I; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Bongers EM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Brilstra EH; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Brown CW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Genetics, Texas Children's Hospital, Houston, Texas, USA., Brüggenwirth HT; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, the Netherlands., Callewaert B; Center for Medical Genetics, Ghent University, Ghent, Belgium., Chiang C; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Corning K; Greenwood Genetic Center, Columbia, South Carolina, USA., Cox H; West Midlands Regional Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, UK., Cuppen E; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Currall BB; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA., Cushing T; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, University of New Mexico, Albuquerque, New Mexico, USA., David D; Department of Human Genetics, National Health Institute Doutor Ricardo Jorge, Lisbon, Portugal., Deardorff MA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dheedene A; Center for Medical Genetics, Ghent University, Ghent, Belgium., D'Hooghe M; Department of Neurology and Child Neurology, Algemeen Ziekenhuis Sint-Jan, Brugge, Belgium., de Vries BB; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Earl DL; Seattle Children's, Seattle, Washington, USA., Ferguson HL; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Fisher H; Mount Sinai West Hospital, New York, New York, USA., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK., Gerrol P; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Giachino D; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Turin, Italy., Glessner JT; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Gliem T; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Grady M; UW Cancer Center at ProHealth Care, Waukesha, Wisconsin, USA., Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Genetics, Texas Children's Hospital, Houston, Texas, USA., Griffis C; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA., Gripp KW; Sidney Kimmel Medical School at Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Gropman AL; Division of Neurogenetics and Developmental Pediatrics, Children's National Medical Center, Washington, DC, USA., Hanson-Kahn A; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, California, USA., Harris DJ; Division of Genetics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Hayden MA; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Hill R; Department of Neurology, Auckland City Hospital, Auckland, New Zealand., Hochstenbach R; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Hoffman JD; Division of Genetics, Department of Pediatrics, Boston Medical Center, Boston, Massachusetts, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Hubshman MW; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Irons M; Academic Affairs, American Board of Medical Specialties, Chicago, Illinois, USA., Irving M; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Division of Medical and Molecular Genetics, King's College London, London, UK., Jacobsen JC; Centre for Brain Research and School of Biological Sciences, University of Auckland, Auckland, New Zealand., Janssens S; Center for Medical Genetics, Ghent University, Ghent, Belgium., Jewett T; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Johnson JP; Department of Molecular Genetics, Shodair Children's Hospital, Helena, Montana, USA., Jongmans MC; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Kahler SG; Division of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, Arkansas, USA., Koolen DA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Korzelius J; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Kroisel PM; Institute of Human Genetics, Medical University of Graz, Graz, Austria., Lacassie Y; Department of Pediatrics, Louisiana State University Health Sciences Center (LSUHSC) and Children's Hospital, New Orleans, Louisiana, USA., Lawless W; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Lemyre E; Department of Pediatrics, University of Montreal, CHU Sainte-Justine, Montreal, Quebec, Canada., Leppig K; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.; Clinical Genetics, Group Health Cooperative, Seattle, Washington, USA., Levin AV; Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Li H; Center for Reproduction and Genetics, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China., Li H; Center for Reproduction and Genetics, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China., Liao EC; Center for Regenerative Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Division of Plastic and Reconstructive Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA.; Harvard Stem Cell Institute, Cambridge, Massachusetts, USA., Lim C; Division of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, Arkansas, USA.; Virginia G. Piper Cancer Center at HonorHealth, Scottsdale, Arizona, USA., Lose EJ; Department of Genetics, University of Alabama at Birmingham (UAB), Birmingham, Alabama, USA., Lucente D; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Macera MJ; Clinical Cytogenetics Laboratory, New York-Presbyterian Hospital, Columbia University Medical Center, New York, New York, USA., Manavalan P; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Mandrile G; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Turin, Italy., Marcelis CL; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Margolin L; Genomics Platform, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Mason T; Genomics Platform, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Masser-Frye D; Department of Genetics, Rady Children's Hospital, San Diego, California, USA., McClellan MW; Department of Obstetrics and Gynecology, Madigan Army Medical Center, Tacoma, Washington, USA., Mendoza CJ; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Menten B; Center for Medical Genetics, Ghent University, Ghent, Belgium., Middelkamp S; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Mikami LR; Group for Advanced Molecular Investigation, Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil.; Centro Universitário Autônomo do Brasil (Unibrasil), Curitiba, Brazil., Moe E; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA., Mohammed S; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK., Mononen T; Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland., Mortenson ME; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.; Novant Health Derrick L. Davis Cancer Center, Winston-Salem, North Carolina, USA., Moya G; GENOS Laboratory, Buenos Aires, Argentina., Nieuwint AW; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., Ordulu Z; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Parkash S; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.; Department of Pediatrics, Maritime Medical Genetics Service, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada., Pauker SP; Harvard Medical School, Boston, Massachusetts, USA.; Medical Genetics, Harvard Vanguard Medical Associates, Watertown, Massachusetts, USA., Pereira S; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Perrin D; Genomics Platform, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Phelan K; Hayward Genetics Program, Department of Pediatrics, Tulane University School of Medicine, New Orleans, Louisiana, USA., Aguilar RE; Medical Genomics Division, Centro Medico Nacional 20 de Noviembre, ISSSTE, Mexico City, Mexico.; School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK., Poddighe PJ; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., Pregno G; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Turin, Italy., Raskin S; Group for Advanced Molecular Investigation, Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil., Reis L; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Children's Research Institute, Milwaukee, Wisconsin, USA., Rhead W; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Rita D; Midwest Diagnostic Pathology, Aurora Clinical Labs, Rosemont, Illinois, USA., Renkens I; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Roelens F; Algemeen Ziekenhuis Delta, Roeselare, Belgium., Ruliera J; Center for Human Genetic Research DNA and Tissue Culture Resource, Boston, Massachusetts, USA., Rump P; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Schilit SL; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Sparkes R; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Spiegel E; Division of Maternal Fetal Medicine, Columbia University Medical Center, New York, New York, USA., Stevens B; McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, Texas, USA., Stone MR; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Tagoe J; Genetic Services, Alberta Health Services, Lethbridge, Alberta, Canada., Thakuria JV; Harvard Medical School, Boston, Massachusetts, USA.; Division of Medical Genetics, Massachusetts General Hospital, Boston, Massachusetts, USA., van Bon BW; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., van de Kamp J; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., van Der Burgt I; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., van Essen T; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., van Ravenswaaij-Arts CM; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., van Roosmalen MJ; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Vergult S; Center for Medical Genetics, Ghent University, Ghent, Belgium., Volker-Touw CM; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Warburton DP; Division of Clinical Genetics, Columbia University Medical Center, New York, New York, USA., Waterman MJ; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Biology, Eastern Nazarene College, Quincy, Massachusetts, USA., Wiley S; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinatti, Ohio, USA., Wilson A; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Yerena-de Vega MC; Laboratory of Genetics, Centro Medico Nacional 20 de Noviembre, ISSSTE, Mexico City, Mexico., Zori RT; Division of Pediatric Genetics and Metabolism, University of Florida, Gainesville, Florida, USA., Levy B; Department of Pathology, Columbia University, New York, New York, USA., Brunner HG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, and Grow School of Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands., de Leeuw N; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Kloosterman WP; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Thorland EC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Morton CC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Gusella JF; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA., Talkowski ME; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

Publikováno v: Nature genetics [Nat Genet] 2017 Jan; Vol. 49 (1), pp. 36-45. Date of Electronic Publication: 2016 Nov 14.

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

Autor: Basel-Vanagaite L; Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel. basel@post.tau.ac.il, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G

Publikováno v: American journal of human genetics [Am J Hum Genet] 2013 Sep 05; Vol. 93 (3), pp. 524-9. Date of Electronic Publication: 2013 Aug 08.