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Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
Engal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Mor, Evyatar; Tzvi, Naama; Elefant, Naama; Zaki, Maha S; Gleeson, Joseph G; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H; Pachat, Divya; Elmaksoud, Marwa Abd; Jeong, Won Chan; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Elpeleg, Orly; Gordon, Chris; Harel, Tamar; Õunap, Katrin; Salton, Maayan; Mor-Shaked, Hagar.
Afiliação
  • 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.
  • Oja KT; Department of Military Medicine and "Tzameret", Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Maroofian R; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
  • Geminder O; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Le TL; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Mor 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.
  • Tzvi N; Department of Military Medicine and "Tzameret", Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Elefant N; Institute Imagine, Paris, France.
  • Zaki MS; Department of computer science, Ben-Gurion University of the Negev.
  • Gleeson JG; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Muru K; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Pajusalu S; Department of Clinical Genetics, Human Genetics and Genome Research Institute, Cairo, Egypt.
  • Wojcik MH; Department of Neurosciences, University of California, San Diego, La Jolla, USA.
  • Pachat D; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, USA.
  • Elmaksoud MA; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
  • Jeong WC; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Lee H; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
  • Bauer P; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Zifarelli G; Broad Institute of MIT and Harvard, Cambridge, MA.
  • Houlden H; Aster MIMS, Kozhikode, Kerala, India.
  • Elpeleg O; Neurology Unit, Alexandria University Children's Hospital, Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
  • Gordon C; 3billion, Seoul, Korea.
  • Harel T; 3billion, Seoul, Korea.
  • Õunap K; CENTOGENE N.V., Am Strande 7, 18055 Rostock, Germany.
  • Salton M; CENTOGENE N.V., Am Strande 7, 18055 Rostock, Germany.
  • Mor-Shaked H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
medRxiv ; 2023 Jun 27.
Article em En | MEDLINE | ID: mdl-37425688
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article