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Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Engal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Marzin, Pauline; Guimier, Anne; Mor, Evyatar; Zvi, Naama; Elefant, Naama; Zaki, Maha S; Gleeson, Joseph G; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H; Pachat, Divya; Elmaksoud, Marwa Abd; Chan Jeong, Won; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Daana, Muhannad; Elpeleg, Orly; Amiel, Jeanne; Lyonnet, Stanislas; Gordon, Christopher T; Harel, Tamar; Õunap, Katrin; Salton, Maayan; Mor-Shaked, Hagar.
Afiliación
  • Engal E; Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel; Department of Military Medicine and "Tzameret," Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Isra
  • Oja KT; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Geminder O; Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel; Department of Military Medicine and "Tzameret," Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Isra
  • Le TL; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, 75015 Paris, France.
  • Marzin P; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France.
  • Guimier A; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, 75015 Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, 75015 P
  • Mor E; Department of Computer Science, Ben-Gurion University of the Negev, Beersheba, Israel.
  • Zvi N; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Elefant N; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, Cairo, Egypt.
  • Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, USA; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, USA.
  • Muru K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Pajusalu S; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Wojcik MH; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Pachat D; Department of Medical Genetics, Aster MIMS (Malabar Institute of Medical Sciences)-Calicut, Kerala, India.
  • Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
  • Chan Jeong W; 3billion, Seoul, South Korea.
  • Lee H; 3billion, Seoul, South Korea.
  • Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.
  • Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.
  • Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Daana M; Child Development Centers, Clalit Health Care Services, Jerusalem, Israel.
  • Elpeleg O; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Amiel J; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, 75015 Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, 75015 P
  • Lyonnet S; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, 75015 Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, 75015 P
  • Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, 75015 Paris, France.
  • Harel T; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Salton M; Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.
  • Mor-Shaked H; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. Electronic address: hagarmor@hadassah.org.il.
Am J Hum Genet ; 110(12): 2112-2119, 2023 Dec 07.
Article en En | MEDLINE | ID: mdl-37963460
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual / Malformaciones del Sistema Nervioso Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual / Malformaciones del Sistema Nervioso Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article