Regeneration of pulp-dentin complex using human stem cells of the apical papilla: in vivo interaction with two bioactive materials.

Autor: Sequeira DB; CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.; Institute of Endodontics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Oliveira AR; CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.; MIT Portugal PhD Program, Universidade Nova de Lisboa, Lisbon, Portugal., Seabra CM; CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.; Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal., Palma PJ; Institute of Endodontics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Ramos C; Coimbra Institute for Clinical and Biomedical Research (iCBR) - CIBB, University of Coimbra, Coimbra, Portugal.; Institute of Biophysics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Figueiredo MH; Institute of Endodontics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Santos AC; Coimbra Institute for Clinical and Biomedical Research (iCBR) - CIBB, University of Coimbra, Coimbra, Portugal.; Institute of Biophysics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Cardoso AL; CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.; Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal., Peça J; CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.; Department of Life Sciences, University of Coimbra, Coimbra, Portugal., Santos JM; Institute of Endodontics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal. jsantos@fmed.uc.pt.; Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal. jsantos@fmed.uc.pt.

Publikováno v: Clinical oral investigations [Clin Oral Investig] 2021 Sep; Vol. 25 (9), pp. 5317-5329. Date of Electronic Publication: 2021 Feb 25.

Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.

Autor: Seabra CM; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, MA, USA.; GABBA Program - Institute of Biomedical Sciences Abel Salazar of the University of Porto, Porto, Portugal., Aneichyk T; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, MA, USA.; Independent Data Lab UG, Munich, Germany., Erdin S; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, MA, USA., Tai DJC; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA., De Esch CEF; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA., Razaz P; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA., An Y; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Human Phenome Institute, Fudan University, Shanghai, China., Manavalan P; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Ragavendran A; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, MA, USA.; Center for Computational Biology of Human Disease & Center for Computation and Visualization, Brown University, Providence, Rhode Island, USA., Stortchevoi A; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Abad C; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL, USA., Young JI; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL, USA., Maciel P; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.; ICVS/3B's - PT Government Associate Laboratory, Braga, Guimarães, Portugal., Talkowski ME; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA., Gusella JF; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. gusella@helix.mgh.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, MA, USA. gusella@helix.mgh.harvard.edu.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA. gusella@helix.mgh.harvard.edu.; Harvard Stem Cell Institute, Harvard University, Cambridge, MA, USA. gusella@helix.mgh.harvard.edu.

Publikováno v: Molecular autism [Mol Autism] 2020 Jun 05; Vol. 11 (1), pp. 45. Date of Electronic Publication: 2020 Jun 05.

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.

Autor: Seabra CM; GABBA - Institute of Biomedical Sciences Abel Salazar of the University of Porto, Porto, Portugal.; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, Massachusetts., Szoko N; Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio., Erdin S; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, Massachusetts., Ragavendran A; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, Massachusetts., Stortchevoi A; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts., Maciel P; Life and Health Sciences Research Institute, School of Medicine, University of Minho, Braga, Portugal.; ICVS/3Bs - PT Government Associate Laboratory, Braga/Guimarães, Portugal., Lundberg K; Center for Proteomics, Case Western Reserve University School of Medicine, Cleveland, Ohio., Schlatzer D; Center for Proteomics, Case Western Reserve University School of Medicine, Cleveland, Ohio., Smith J; Baylor Genetics Laboratories, Baylor College of Medicine, Houston, Texas., Talkowski ME; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Harvard University, Boston, Massachusetts., Gusella JF; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, Massachusetts.; Department of Genetics, Harvard Medical School, Harvard University, Boston, Massachusetts., Natowicz MR; Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio.; Pathology & Laboratory Medicine, Genomic Medicine, Neurology and Pediatrics Institutes, Cleveland Clinic, Cleveland, Ohio.; Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, Ohio.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Sep; Vol. 173 (9), pp. 2478-2484. Date of Electronic Publication: 2017 Jul 10.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Autor: Collins RL; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, MA, 02115, USA.; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Brand H; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Redin CE; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Hanscom C; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Antolik C; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Stone MR; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Glessner JT; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Mason T; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Pregno G; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Orbassano, Italy., Dorrani N; Department of Pathology & Laboratory Medicine and UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California Los Angeles, UCLA, Los Angeles, CA, 90095, USA., Mandrile G; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Orbassano, Italy., Giachino D; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Orbassano, Italy., Perrin D; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Walsh C; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Cipicchio M; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Costello M; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Stortchevoi A; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., An JY; Department of Psychiatry, University of California San Francisco, San Francisco, CA, 94103, USA., Currall BB; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Seabra CM; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA.; GABBA Program, University of Porto, Porto, 4099-002, Portugal., Ragavendran A; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Margolin L; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Martinez-Agosto JA; Department of Pathology & Laboratory Medicine and UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California Los Angeles, UCLA, Los Angeles, CA, 90095, USA., Lucente D; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA., Levy B; Department of Pathology, Columbia University, New York, NY, 10032, USA., Sanders SJ; Department of Psychiatry, University of California San Francisco, San Francisco, CA, 94103, USA., Wapner RJ; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, 10032, USA., Quintero-Rivera F; Department of Pathology & Laboratory Medicine and UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California Los Angeles, UCLA, Los Angeles, CA, 90095, USA., Kloosterman W; Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands., Talkowski ME; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA. talkowski@chgr.mgh.harvard.edu.; Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, MA, 02115, USA. talkowski@chgr.mgh.harvard.edu.; Program in Population and Medical Genetics and Genomics Platform, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA. talkowski@chgr.mgh.harvard.edu.

Publikováno v: Genome biology [Genome Biol] 2017 Mar 06; Vol. 18 (1), pp. 36. Date of Electronic Publication: 2017 Mar 06.

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