المؤلفون: Thorpe E; Illumina Inc, San Diego, CA, USA., Williams T; Genetic and Genomic Services PBC, Houston, TX, USA., Shaw C; Genetic and Genomic Services PBC, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Statistics, Rice University, Houston, TX, USA., Chekalin E; Illumina Inc, San Diego, CA, USA., Ortega J; Illumina Inc, San Diego, CA, USA; C2N Diagnostics, St. Louis, MO, USA., Robinson K; Illumina Inc, San Diego, CA, USA., Button J; Illumina Inc, San Diego, CA, USA., Jones MC; Rady Children's Hospital, San Diego, CA, USA; University of California, San Diego, San Diego, CA, USA., Campo MD; Rady Children's Hospital, San Diego, CA, USA; University of California, San Diego, San Diego, CA, USA., Basel D; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., McCarrier J; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., Keppen LD; Sanford USD Medical Center, Sioux Falls, SD, USA., Royer E; Sanford Children's Specialty Clinics at Sanford Health, USD Sanford School of Medicine, Sioux Falls, SD, USA., Foster-Bonds R; Rare Genomics Institute, Los Angeles, CA, USA., Duenas-Roque MM; Servicio de Genética, Hospital Edgardo Rebagliati Martins - EsSalud, Lima, Peru., Urraca N; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Bosfield K; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Brown CW; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Lydigsen H; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Mroczkowski HJ; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Ward J; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS Mondino Foundation, Pavia, Italy., Vaux K; Point Loma Pediatrics, San Diego, CA, USA., Salguero HP; Padrino Children's Foundation, Todos Santos, B.C.S., Mexico., Lumaka A; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo; Center for Human Genetics, Centre Hospitalier Universitaire, Liège, Belgium., Mubungu G; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo., Makay P; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo., Ngole M; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo., Lukusa PT; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo., Vanderver A; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Muirhead K; Ambry Genetics, Aliso Viejo, CA, USA., Sherbini O; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lah MD; Indiana University School of Medicine, Indianapolis, IN, USA., Anderson K; Indiana University School of Medicine, Indianapolis, IN, USA., Bazalar-Montoya J; Instituto Nacional de Salud del Niño-San Borja, Lima, Peru., Rodriguez RS; Instituto Nacional de Salud del Niño-San Borja, Lima, Peru., Cornejo-Olivas M; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru; Neurogenetics Working Group, Universidad Científica del Sur, Lima, Peru., Milla-Neyra K; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru., Shinawi M; Washington University, St. Louis, MO, USA; St. Louis Children's Hospital, St. Louis, MO, USA., Magoulas P; Texas Children's Hospital, Houston, TX, USA., Henry D; UCSF Benioff Children's Hospitals, San Francisco, CA, USA., Gibson K; Canterbury District Health Board, Canterbury, New Zealand., Wiafe S; Rare Disease Ghana Initiative, Accra, Ghana., Jayakar P; Nicklaus Children's Health System, Miami, FL, USA., Salyakina D; Nicklaus Children's Health System, Miami, FL, USA., Masser-Frye D; Rady Children's Hospital, San Diego, CA, USA; San Diego-Imperial Counties Developmental Services, Inc., San Diego, CA, USA., Serize A; South Miami Hospital, South Miami, FL, USA., Perez JE; South Miami Hospital, South Miami, FL, USA., Taylor A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Shenbagam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Abou Tayoun A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Malhotra A; Illumina Inc, San Diego, CA, USA., Bennett M; Illumina Inc, San Diego, CA, USA., Rajan V; Illumina Inc, San Diego, CA, USA; Veracyte, San Diego, CA, USA., Avecilla J; Illumina Inc, San Diego, CA, USA., Warren A; Illumina Inc, San Diego, CA, USA., Arseneault M; Illumina Inc, San Diego, CA, USA., Kalista T; Illumina Inc, San Diego, CA, USA., Crawford A; Illumina Inc, San Diego, CA, USA., Ajay SS; Illumina Inc, San Diego, CA, USA., Perry DL; Illumina Inc, San Diego, CA, USA., Belmont J; Genetic and Genomic Services PBC, Houston, TX, USA., Taft RJ; Illumina Inc, San Diego, CA, USA. Electronic address: rtaft@geneticalliance.org.

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1271-1281. Date of Electronic Publication: 2024 Jun 05.

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

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: Rare Diseases*/genetics , Rare Diseases*/diagnosis , Genetic Testing*/methods , Whole Genome Sequencing*, Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Adult ; Infant ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/diagnosis

المؤلفون: Rinaldi B; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Bayat A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark., Zachariassen LG; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Sun JH; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Zhejiang Key Laboratory of Organ Development and Regeneration, College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou 310030, China., Ge YH; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China., Zhao D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Bonde K; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Madsen LH; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Awad IAA; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Bagiran D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Sbeih A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Shah SM; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., El-Sayed S; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Lyngby SM; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Pedersen MG; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Stenum-Berg C; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Walker LC; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany., Delahaye-Duriez A; Unité fonctionnelle de médecine génomique et génétique clinique, Hôpital Jean Verdier, Assistance Publique des Hôpitaux de Paris, Bondy 93140, France.; NeuroDiderot, UMR 1141, Inserm, Université Paris Cité, Paris 75019, France.; UFR SMBH, Université Sorbonne Paris Nord, Bobigny 93000, France., Emrick LT; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Sully K; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA., Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Plaud Gonzalez JA; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA., Parnes M; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Movement Disorders Clinic, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA., Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92123, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92123, USA., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France., Lefranc J; Pediatric Neurophysiology Department, CHU de Brest, Brest 29200, France., Redon S; Service de Génétique Médicale, CHU de Brest, Brest 29200, France.; Université de Brest, CHU de Brest, UMR 1078, Brest F29200, France., Heron D; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France., Mignot C; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France., Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, Paris 75013, France., Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes 35200, France., Dubourg C; Service de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes 35200, France.; Université de Rennes, CNRS, Institut de Genetique et Developpement de Rennes, UMR 6290, Rennes 35200, France., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Cogne B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Rivier C; Department of Paediatrics, Villefranche-sur-Saône Hospital, Villefranche-sur-Saône 69655, France., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Bedeschi MF; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Di Napoli C; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Grilli F; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Marchisio P; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Pneumoinfettivologia, Milan 20122, Italy.; University of Milan, Milan 20122, Italy., Koudijs S; Department of Neurology, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands., Veenma D; Department of Pediatrics, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands., Argilli E; Institute of Human Genetics, University of California, San Francisco, CA 94143, USA.; Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, CA 94143, USA., Lynch SA; Department of Clinical Genetics, Children's Health Ireland Crumlin, Dublin D12 N512, Ireland., Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Ayala Valenzuela FE; Hospital Angeles Tijuana, Tijuana 22010, Mexico., Brown C; Illumina Inc, San Diego, CA 92122, USA., Masser-Frye D; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA., Jones M; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA., Patron Romero L; Facultad de Medicina y Psicología, Universidad Autónoma de Baja California, Tijuana 22010, Mexico., Li WL; Breakthrough Genomics Inc, Irvine, CA 92618, USA., Thorpe E; Illumina Inc, San Diego, CA 92122, USA., Hecher L; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany., Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany., McNiven V; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Fred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON M5G 2C4, Canada., Szuto A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1E8, Canada., Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Cruz V; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA., Sency V; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA., Wang H; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA., Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon 25000, France.; UMR 1231 GAD, Inserm, Université de Bourgogne Franche-Comté, Dijon 21000, France., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Condell A; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia., Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan 52621, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv 4R73+8Q, Israel., Kaur S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia.; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales 2050, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NewSouth Wales 2050, Australia., Piton A; Hôpitaux Universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg 67000, France., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern 3010, Switzerland., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany., Micalizzi A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., Trivisano M; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome 00165, Italy., Specchio N; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome 00165, Italy., Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon 69100, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon 69100, France., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2100, Denmark., Musgaard M; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada., Gerard B; Laboratoires de diagnostic genetique, Institut de genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg 67000, France., Lemke JR; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig 04103, Germany., Shi YS; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China.; Guangdong Institute of Intelligence Science and Technology, Zhuhai 519031, China., Kristensen AS; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.

المصدر: Brain : a journal of neurology [Brain] 2024 May 03; Vol. 147 (5), pp. 1837-1855.

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

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

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics , Receptors, AMPA*/genetics , Phenotype* , Loss of Function Mutation*/genetics , Gain of Function Mutation*/genetics, Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Infant ; Adult ; Young Adult

المؤلفون: Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. Electronic address: alexander.holtz@childrens.havard.edu., VanCoillie R; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI., Vansickle EA; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI., Carere DA; GeneDx, Gaithersburg, MD., Withrow K; GeneDx, Gaithersburg, MD., Torti E; GeneDx, Gaithersburg, MD., Juusola J; GeneDx, Gaithersburg, MD., Millan F; GeneDx, Gaithersburg, MD., Person R; GeneDx, Gaithersburg, MD., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD., Si Y; GeneDx, Gaithersburg, MD., Wentzensen IM; GeneDx, Gaithersburg, MD., Pugh J; Center for Precision Health Research, National Human Genome Research Institute, Bethesda, MD; Department of Health, Behavior and Society, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Rieger M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Argilli E; Brain Development Research Program, Department of Neurology, University of California San Francisco, San Francisco, CA., Sherr EH; Brain Development Research Program, Department of Neurology, University of California San Francisco, San Francisco, CA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA., Dobyns WB; Division of Pediatric Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Brunet T; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Hoefele J; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany., Wagner M; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany., Haber B; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Mignot C; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Heide S; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Courtin T; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Buratti J; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Murugasen S; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., O'Heir E; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Moody S; Division of Child and Adolescent Neurology, The University of Texas Health Science Center, Houston, TX., Kim KH; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL., Burton BK; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL., Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Campo MD; Division of Dysmorphology & Teratology, Department of Pediatrics, University of California San Diego, San Diego, CA., Masser-Frye D; Division of Genetics/ Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA., Kozenko M; Division of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada., Parkinson C; Division of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada., Sell SL; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA., Gordon PL; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA., Prokop JW; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI., Karaa A; Division of Genetics and Genomics, Massachusetts General Hospital, Harvard Medical School, Boston, MA., Bupp C; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI. Electronic address: Caleb.Bupp@spectrumhealth.org., Raby BA; Division of Pulmonary Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA. Electronic address: benjamin.raby@childrens.harvard.edu.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2065-2078. Date of Electronic Publication: 2022 Aug 18.

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

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

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics , Nonmuscle Myosin Type IIB*/genetics, Actins ; Cilia/genetics ; Hedgehog Proteins/genetics ; Humans ; Myosin Heavy Chains/genetics

المؤلفون: Sun JH; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China., Chen J; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China., Ayala Valenzuela FE; Hospital Angeles Tijuana, Tijuana, México., Brown C; Illumina Inc., San Diego, California, United States of America., Masser-Frye D; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, California, United States of America., Jones M; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, California, United States of America., Romero LP; Facultad de Medicina y Psicología, Universidad Autónoma de Baja California, Tijuana, Mexico., Rinaldi B; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Li WL; Breakthrough Genomics Inc., Irvine, California, United States of America., Li QQ; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China., Wu D; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China., Gerard B; Laboratoires de diagnostic génétique, Institut Medical d'Alsace, Hôpitaux Universitaire de Strasbourg, Strasbourg, France., Thorpe E; Illumina Inc., San Diego, California, United States of America., Bayat A; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Shi YS; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China.; Institute for Brain Sciences, Nanjing University, Nanjing, China.; Chemistry and Biomedicine Innovation Center, Nanjing University, Nanjing, China.

المصدر: PLoS genetics [PLoS Genet] 2021 Jun 23; Vol. 17 (6), pp. e1009608. Date of Electronic Publication: 2021 Jun 23 (Print Publication: 2021).

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

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Gain of Function Mutation*, Egg Proteins/*genetics , Membrane Proteins/*genetics , Neurons/*metabolism , Receptors, AMPA/*genetics , Spasms, Infantile/*genetics, Amino Acid Sequence ; Animals ; Cerebellum/metabolism ; Cerebellum/pathology ; Child, Preschool ; Egg Proteins/metabolism ; Female ; Gene Expression ; HEK293 Cells ; Hippocampus/metabolism ; Hippocampus/pathology ; Humans ; Membrane Proteins/metabolism ; Mice ; Mice, Inbred ICR ; Models, Molecular ; Neurons/pathology ; Primary Cell Culture ; Protein Conformation ; Receptors, AMPA/metabolism ; Sequence Alignment ; Sequence Homology, Amino Acid ; Spasms, Infantile/metabolism ; Spasms, Infantile/pathology

SCR Disease Name: Infantile Epileptic-Dyskinetic Encephalopathy

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Koolen, D.A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H.E., Conta, J.H., Fortuna, A.M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O.A., Winesett, H.M., Chung, W.K., Dalton, M., Dimova, P.S., Mattina, T., Prescott, K., Zhang, H.Z., Saal, H.M., Hehir-Kwa, J.Y., Willemsen, M.H., Ockeloen, C.W., Jongmans, M.C., Aa, N. van der, Failla, P., Barone, C., Avola, E., Brooks, A.S., Kant, S.G., Gerkes, E.H., Firth, H.V., Ounap, K., Bird, L.M., Masser-Frye, D., Friedman, J.R., Sokunbi, M.A., Dixit, A., Splitt, M., Kukolich, M.K., McGaughran, J., Coe, B.P., Florez, J., Kasri, N.N., Brunner, H.G., Thompson, E.M., Gecz, J., Romano, C., Eichler, E.E., Vries, B.B.A. de, DDD Study

المساهمون: Clinical Genetics, Klinische Genetica, MUMC+: DA Klinische Genetica (5), Genetica & Celbiologie, RS: FHML non-thematic output, RS: GROW - School for Oncology and Reproduction, RS: GROW - R4 - Reproductive and Perinatal Medicine, DDD Study

المصدر: European Journal of Human Genetics, 24(5), 652-659
European Journal of Human Genetics, 24(5), 652-659. Nature Publishing Group
European Journal of Human Genetics, 24, 652-9
European Journal of Human Genetics, 24(5), 652. Nature Publishing Group
European journal of human genetics : EJHG, vol 24, iss 5
European Journal of Human Genetics, 24, 5, pp. 652-9
European journal of human genetics

مصطلحات موضوعية: 0301 basic medicine, Male, Congenital, Epilepsy, Intellectual disability, MAPT, 2.1 Biological and endogenous factors, Koolen-de Vries syndrome, KANSL1, phenotype, Genetics(clinical), Copy-number variation, Aetiology, Non-U.S. Gov't, Child, Genetics (clinical), Pediatric, Genetics & Heredity, Genetics, COMMON INVERSION, DEVELOPMENTAL DELAY, Research Support, Non-U.S. Gov't, Nuclear Proteins, Single Nucleotide, Microdeletion syndrome, Middle Aged, Hypotonia, Chemistry, DROSOPHILA, Phenotype, Female, Abnormalities, medicine.symptom, Chromosome Deletion, Haploinsufficiency, Multiple, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, Adolescent, Koolen De Vries syndrome, INVERSION POLYMORPHISM, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Copy number analysis, COPY-NUMBER VARIATION, Biology, Research Support, Polymorphism, Single Nucleotide, Chromosomes, Article, 03 medical and health sciences, Rare Diseases, Clinical Research, Intellectual Disability, Journal Article, medicine, Humans, Abnormalities, Multiple, Polymorphism, DDD Study, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], COMPLEX, MUTATIONS, Pair 17, DISABILITY, Neurosciences, medicine.disease, Brain Disorders, DELINEATION, 030104 developmental biology, Congenital Structural Anomalies, Human medicine, Chromosomes, Human, Pair 17

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f827d463b917f0431b68269c99908da3
http://hdl.handle.net/1887/112975

المؤلفون: Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bernard G; Departments of Neurology and Neurosurgery, Pediatrics, and Human Genetics, McGill University, Montreal, Quebec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montreal, Quebec, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Helman G; Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia., Sherbini O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Boeck R; Child Neurology Consultants of Austin, Austin, Texas, USA.; University of Texas at Austin Dell Medical School, Austin, Texas, USA., Cohn J; Family Medicine, Broadlands Family Practice at Ashburn, Ashburn, Virginia, USA., Collins A; Department of Neurology, Anschutz Medical Campus, University of Colorado School of Medicine, Aurora, Colorado, USA., Demarest S; Department of Neurology, Anschutz Medical Campus, University of Colorado School of Medicine, Aurora, Colorado, USA., Dobbins K; Walter Reed National Military Medical Center, Bethesda, Maryland, USA., Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Fraser JL; Division of Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, Washington, District of Columbia, USA.; George Washington University, Washington, District of Columbia, USA., Masser-Frye D; Rady Children's Hospital, San Diego, California, USA., Hayward J; Department of Pediatrics, Kaiser Oakland, Oakland, California, USA., Karmarkar S; Department of Neurology, Le Bonheur Children's Hospital, Memphis, Tennessee, USA.; Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee, USA., Keller S; Division of Neurology, Department of Pediatrics, Emory University, Atlanta, Georgia, USA., Mirrop S; Pediatric Associates of Austin, Austin, Texas, USA., Mitchell W; Division of Neurology, Children's Hospital of Los Angeles, Los Angeles, California, USA.; Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Pathak S; Clinical Neurology, Washington University Clinical Associates, St Louis, Missouri, USA.; Department of Neurology, Washington University School of Medicine, St Louis, Missouri, USA., Sherr E; Department of Neurology, University of California, San Francisco School of Medicine, San Francisco, California, USA., van Haren K; Department of Neurology, Stanford University Medical Center, Stanford, California, USA., Waters E; Pediatric Associates of Stockton, Stockton, California, USA., Wilson JL; Division of Pediatric Neurology, Oregon Health & Science University School of Medicine, Portland, Oregon, USA., Zhorne L; Stead Family Department of Pediatrics, Carver College of Medicine, University of Iowa Health Care, Iowa City, Iowa, USA., Schiffmann R; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, Texas, USA., van der Knaap MS; Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands.; Department of Functional Genomics, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Shults J; Department of Biostatistics, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Simons C; Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia., Taft RJ; Illumina, San Diego, California, USA.

مؤلفون مشاركون: LeukoSEQ Workgroup

المصدر: Annals of neurology [Ann Neurol] 2020 Aug; Vol. 88 (2), pp. 264-273. Date of Electronic Publication: 2020 Jun 09.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Leukoencephalopathies/*diagnosis , Leukoencephalopathies/*genetics , Sequence Analysis, DNA/*methods, Child ; Child, Preschool ; Cross-Over Studies ; Female ; Humans ; Infant ; Male ; Prospective Studies ; White Matter/pathology

المؤلفون: Karch C; Virginia Commonwealth University School of Medicine Richmond Virginia USA., Masser-Frye D; Rady Children's Hospital San Diego San Diego California USA., Limjoco J; Rady Children's Hospital San Diego San Diego California USA., Ryan SE; Bloodworks Northwest Seattle Washington USA., Fletcher SN; Bloodworks Northwest Seattle Washington USA., Corbett KD; Department of Cellular and Molecular Medicine University of California San Diego La Jolla California USA., Johnsen JM; Bloodworks Northwest Seattle Washington USA.; Department of Medicine University of Washington Seattle Washington USA., Thornburg CD; Rady Children's Hospital San Diego San Diego California USA.; Department of Pediatrics University of California San Diego La Jolla California USA.

المصدر: Research and practice in thrombosis and haemostasis [Res Pract Thromb Haemost] 2020 Jul 12; Vol. 4 (5), pp. 931-935. Date of Electronic Publication: 2020 Jul 12 (Print Publication: 2020).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101703775 Publication Model: eCollection Cited Medium: Internet ISSN: 2475-0379 (Electronic) Linking ISSN: 24750379 NLM ISO Abbreviation: Res Pract Thromb Haemost Subsets: PubMed not MEDLINE

المؤلفون: Savla D; Department of Pediatrics, University of California, San Diego., Del Campo M; Division of Dysmorphology and Teratology, Department of Pediatrics., Masser-Frye D; Division of Genetics and Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA., Kuo DJ; Division of Pediatric Hematology-Oncology, University of California, San Diego/Rady Children's Hospital San Diego.

المصدر: Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2020 May; Vol. 42 (4), pp. 299-301.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9505928 Publication Model: Print Cited Medium: Internet ISSN: 1536-3678 (Electronic) Linking ISSN: 10774114 NLM ISO Abbreviation: J Pediatr Hematol Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Down Syndrome*/diagnosis , Down Syndrome*/drug therapy , Down Syndrome*/genetics , Induction Chemotherapy* , Leukemia, Megakaryoblastic, Acute*/diagnosis , Leukemia, Megakaryoblastic, Acute*/drug therapy , Leukemia, Megakaryoblastic, Acute*/genetics , Mosaicism*, Child, Preschool ; Female ; Humans

المؤلفون: Zawerton A; Department of Cellular & Molecular Medicine, Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA., Mignot C; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France., Sigafoos A; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Blackburn PR; Center for Individualized Medicine, Department of Health Science Research, and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Haseeb A; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., McWalter K; GeneDx, Gaithersburg, MD, USA., Ichikawa S; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA., Nava C; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France., Keren B; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France., Charles P; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France., Marey I; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France., Tabet AC; Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France., Levy J; Genetics Department, Robert Debré Hospital, APHP, Paris, France., Perrin L; Genetics Department, Robert Debré Hospital, APHP, Paris, France., Hartmann A; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; APHP, Department of Neurology, Hôpital de la Pitié-Salpêtrière, Paris, France., Lesca G; Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, and Université Claude Bernard Lyon 1, GHE, Lyon, France., Schluth-Bolard C; Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, and Université Claude Bernard Lyon 1, GHE, Lyon, France., Monin P; Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France., Dupuis-Girod S; Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.; Centre de référence pour la maladie de Rendu-Osler, Bron, France., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA., Zhu Z; GeneDx, Gaithersburg, MD, USA., Poisson A; GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Centre Hospitalier le Vinatier and EDR-Psy Team (CNRS & Lyon 1 Claude Bernard University), Lyon, France., El Chehadeh S; Département de Génétique Médicale, CHU de Hautepierre, Strasbourg, France., Alembik Y; Département de Génétique Médicale, CHU de Hautepierre, Strasbourg, France., Bruel AL; INSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.; FHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France., Lehalle D; INSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Génétique et Centre de Référence Maladies Rares «Anomalies du Développement de l'Interrégion Est», Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France., Nambot S; INSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Génétique et Centre de Référence Maladies Rares «Anomalies du Développement de l'Interrégion Est», Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France., Moutton S; INSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Génétique et Centre de Référence Maladies Rares «Anomalies du Développement de l'Interrégion Est», Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France., Odent S; CHU de Rennes, service de génétique clinique, Rennes, France.; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Jaillard S; Univ Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S 1085, Rennes, France., Dubourg C; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France.; Service de Génétique Moléculaire et Génomique, CHU, Rennes, France., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Barbaro-Dieber T; Cook Childrens Medical Center, Fort Worth, TX, USA., Ortega L; Cook Childrens Medical Center, Fort Worth, TX, USA., Bhoj EJ; Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Masser-Frye D; Rady Children's Hospital San Diego, Division of Genetics and Dysmorphology, San Diego, CA, USA., Bird LM; Rady Children's Hospital San Diego, Division of Genetics and Dysmorphology, San Diego, CA, USA.; Department of Pediatrics, University of California-San Diego, San Diego, CA, USA., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA., Ramsey KM; Translational Genomics Research Institute (TGen), Center for Rare Childhood Disorders, Phoenix, AZ, USA., Narayanan V; Translational Genomics Research Institute (TGen), Center for Rare Childhood Disorders, Phoenix, AZ, USA., Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Cole T; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Salter CG; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Akilapa R; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, London, UK., Vandersteen A; IWK Health Centre, Dalhousie University, Halifax, NS, Canada., Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, London, UK.; Cheshire & Merseyside Regional Genetics Service, Liverpool Women's Hospital, Liverpool, UK., Rump P; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Bijlsma E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Vargas M; Gillette Children's Specialty Healthcare, St. Paul, MN, USA.; Children's Minnesota, Minneapolis, MN, USA., Wojcik A; Gillette Children's Specialty Healthcare, St. Paul, MN, USA.; Children's Minnesota, Minneapolis, MN, USA., Cherik F; Service de génétique clinique, Centre de Référence Maladies Rares «Anomalies du Développement et syndromes malformatifs du Sud-Est', CHU de Clermont-Ferrand, Clermont-Ferrand, France., Francannet C; Service de génétique clinique, Centre de Référence Maladies Rares «Anomalies du Développement et syndromes malformatifs du Sud-Est', CHU de Clermont-Ferrand, Clermont-Ferrand, France., Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Machol K; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Scott DA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA., Bacino CA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Wang X; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Clark GD; Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA., Bertoli M; Northern Genetics Service-Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK., Zwolinski S; Northern Genetics Service-Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK., Thomas RH; Institute of Neuroscience, Newcastle University, Framlington Place, Newcastle upon Tyne, UK.; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Akay E; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Chang RC; Division of Metabolic Disorders, Children's Hospital of Orange County (CHOC), Orange, CA, USA., Bressi R; Division of Metabolic Disorders, Children's Hospital of Orange County (CHOC), Orange, CA, USA., Sanchez Russo R; Department of Human Genetics, Emory Universit, Atlanta, GA, USA., Srour M; Division of Pediatric Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada., Russell L; Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada., Goyette AE; Child Development Program, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Karimov C; Children's hospital of Los Angeles, Los Angeles, CA, USA., Joseph M; Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA., Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes, France.; INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes, France., Cogné B; CHU Nantes, Service de Génétique Médicale, Nantes, France.; INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes, France., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Piton A; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France., Klee EW; Center for Individualized Medicine, Department of Health Science Research, and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Lefebvre V; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. lefebvrev1@email.chop.edu., Clark KJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Depienne C; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France. christel.depienne@uni-due.de.; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany. christel.depienne@uni-due.de.; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France. christel.depienne@uni-due.de.

مؤلفون مشاركون: Deciphering Developmental Disorder Study

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 524-537. Date of Electronic Publication: 2019 Oct 03.

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

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

مواضيع طبية MeSH: DNA-Binding Proteins/*genetics , Intellectual Disability/*genetics , Neurodevelopmental Disorders/*genetics , SOXD Transcription Factors/*genetics, Adolescent ; Adult ; Animals ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Haploinsufficiency/genetics ; Humans ; Infant ; Intellectual Disability/diagnosis ; Intellectual Disability/pathology ; Language Development Disorders/diagnosis ; Language Development Disorders/genetics ; Language Development Disorders/pathology ; Male ; Mutation, Missense/genetics ; Neurodevelopmental Disorders/diagnosis ; Neurodevelopmental Disorders/pathology ; Pedigree ; Phenotype ; Young Adult