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Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
AlAbdi, Lama; Desbois, Muriel; Rusnac, Domnita-Valeria; Sulaiman, Raashda A; Rosenfeld, Jill A; Lalani, Seema; Murdock, David R; Burrage, Lindsay C; Billie Au, Ping Yee; Towner, Shelley; Wilson, William G; Wong, Lawrence; Brunet, Theresa; Strobl-Wildemann, Gertrud; Burton, Jennifer E; Hoganson, George; McWalter, Kirsty; Begtrup, Amber; Zarate, Yuri A; Christensen, Elyse L; Opperman, Karla J; Giles, Andrew C; Helaby, Rana; Kania, Artur; Zheng, Ning; Grill, Brock; Alkuraya, Fowzan S.
Affiliation
  • AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh 11362, Saudi Arabia.
  • Desbois M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
  • Rusnac DV; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Sulaiman RA; Department of Pharmacology, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Rosenfeld JA; Howard Hughes Medical Institute, Department of Pharmacology, University of Washington, Seattle, WA 98195, USA.
  • Lalani S; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
  • Murdock DR; 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.
  • Billie Au PY; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Wilson WG; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
  • Wong L; Pediatric Genetics, University of Virginia, Charlottesville, VA 22903, USA.
  • Brunet T; Pediatric Genetics, University of Virginia, Charlottesville, VA 22903, USA.
  • Strobl-Wildemann G; Department of Genetics, Northern California Kaiser Permanente, Oakland, CA 94611, USA.
  • Burton JE; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
  • Hoganson G; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
  • McWalter K; Department of Human Genetics, MVZ Humangenetik Ulm, 89073 Ulm, Germany.
  • Begtrup A; Department of Genetics, University of Illinois College of Medicine at Peoria, Peoria, IL 61605, USA.
  • Zarate YA; Department of Genetics, University of Illinois College of Medicine at Peoria, Peoria, IL 61605, USA.
  • Christensen EL; Genedx, Inc., 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Opperman KJ; Genedx, Inc., 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Giles AC; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.
  • Helaby R; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Kania A; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Zheng N; Division of Medical Sciences, University of Northern British Columbia, Prince George, BC V2N 4Z9, Canada.
  • Grill B; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
  • Alkuraya FS; Institut de recherches cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.
Brain ; 146(4): 1373-1387, 2023 04 19.
Article in En | MEDLINE | ID: mdl-36200388
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Caenorhabditis elegans Proteins / Intellectual Disability Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Brain Year: 2023 Document type: Article Affiliation country: Arabia Saudita Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Caenorhabditis elegans Proteins / Intellectual Disability Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Brain Year: 2023 Document type: Article Affiliation country: Arabia Saudita Country of publication: Reino Unido