المؤلفون: Konrad EDH; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Nardini N; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Caliebe A; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany., Nagel I; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany.; Institute of Experimental and Clinical Pharmacology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Young D; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada., Horvath G; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada., Santoro SL; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA., Shuss C; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA., Ziegler A; Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France., Bonneau D; Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France., Kempers M; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Legius E; Department of Human Genetics, KU Leuven and Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium., Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Wojcik MH; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Divisions of Genetics and Genomics and Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Le Guyader G; Service de Génétique Clinique, CHU de Poitiers, Poitiers, France., Schnelle HM; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Zonneveld-Huijssoon E; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Kersten S; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Ellingson MS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Ferber MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Dhamija R; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., McEntagart M; South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, UK., Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kenney A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA., Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Ella Pierpont M; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA., Khattar D; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Martin RJ; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Jongmans MCJ; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Chang VY; Division of Pediatric Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, Los Angeles, CA, USA.; Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA, USA., Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Kuismin O; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland., Kurki MI; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pietiläinen O; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Stem Cell and Regenerative Biology, University of Harvard, Cambridge, MA, USA., Palotie A; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Johnson DS; Sheffield Children's Hospital, Sheffield, UK., Venborg Pedersen K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Laulund LW; Department of Pediatrics, Odense University Hospital, Odense, Denmark., Lynch SA; University College Dublin and Temple Street Children's Hospital, Dublin, Ireland., Blyth M; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Prescott K; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Ibitoye R; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Sticht H; Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Van Esch H; Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany. christiane.zweier@uk-erlangen.de.

مؤلفون مشاركون: DDD Study

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Dec; Vol. 21 (12), pp. 2723-2733. Date of Electronic Publication: 2019 Jun 26.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; 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: CCCTC-Binding Factor/*genetics , CCCTC-Binding Factor/*metabolism , Neurodevelopmental Disorders/*genetics, Animals ; Child ; Chromatin/genetics ; Chromatin/metabolism ; Developmental Disabilities/genetics ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Drosophila melanogaster/genetics ; Drosophila melanogaster/metabolism ; Female ; Gene Expression Profiling/methods ; Gene Expression Regulation/genetics ; Humans ; Intellectual Disability/genetics ; Male ; Mutation/genetics ; Mutation, Missense/genetics ; Neurodevelopmental Disorders/metabolism ; Transcription Factors/genetics ; Exome Sequencing/methods ; Young Adult

المؤلفون: Straub J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Konrad EDH; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Grüner J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Toutain A; Service de Génétique, Centre Hospitalier Universitaire de Tours, 37044 Tours, France., Bok LA; Department of Pediatrics, Máxima Medical Center, 5504 DB Veldhoven, the Netherlands., Cho MT; GeneDx, Gaithersburg, MD 20877, USA., Crawford HP; Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76102, USA., Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Douglas G; GeneDx, Gaithersburg, MD 20877, USA., Jobling R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada., Johnson D; Sheffield Children's Hospital, Sheffield S10 2TH, UK., Krock B; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Mikati MA; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA., Nesbitt A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Nicolai J; Department of Neurology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Phillips M; Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76102, USA., Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA., Ortiz-Gonzalez XR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Pereleman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Powis Z; Ambry Genetics, Aliso Viejo, CA 92656, USA., Santani A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Stegmann APA; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Stumpel C; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Vreeburg M; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Fliedner A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Sticht H; Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address: christiane.zweier@uk-erlangen.de.

مؤلفون مشاركون: Deciphering Developmental Disorders Study; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

المصدر: American journal of human genetics [Am J Hum Genet] 2018 Jan 04; Vol. 102 (1), pp. 44-57. Date of Electronic Publication: 2017 Dec 21.

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: Drosophila Proteins/*genetics , Drosophila melanogaster/*genetics , Epilepsy/*genetics , GTP-Binding Proteins/*genetics , Mutation, Missense/*genetics , Tumor Suppressor Proteins/*genetics, Adolescent ; Amino Acid Sequence ; Animals ; Behavior, Animal ; Child ; Child, Preschool ; Dendrites/metabolism ; Female ; GTP-Binding Proteins/chemistry ; Gene Dosage ; HEK293 Cells ; Humans ; Male ; Phenotype ; Synapses/pathology ; Tumor Suppressor Proteins/chemistry