Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
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| Title: | Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. |
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| Authors: | AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh 11362, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Desbois M; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Rusnac DV; Department of Pharmacology, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, Department of Pharmacology, University of Washington, Seattle, WA 98195, USA., Sulaiman RA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., 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 Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Towner S; Pediatric Genetics, University of Virginia, Charlottesville, VA 22903, USA., Wilson WG; Pediatric Genetics, University of Virginia, Charlottesville, VA 22903, USA., Wong L; Department of Genetics, Northern California Kaiser Permanente, Oakland, CA 94611, USA., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany., Strobl-Wildemann G; Department of Human Genetics, MVZ Humangenetik Ulm, 89073 Ulm, Germany., Burton JE; Department of Genetics, University of Illinois College of Medicine at Peoria, Peoria, IL 61605, USA., Hoganson G; Department of Genetics, University of Illinois College of Medicine at Peoria, Peoria, IL 61605, USA., McWalter K; Genedx, Inc., 207 Perry Parkway, Gaithersburg, MD 20877, USA., Begtrup A; Genedx, Inc., 207 Perry Parkway, Gaithersburg, MD 20877, USA., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA., Christensen EL; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Opperman KJ; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Giles AC; Division of Medical Sciences, University of Northern British Columbia, Prince George, BC V2N 4Z9, Canada., Helaby R; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Kania A; Institut de recherches cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.; Integrated Program in Neuroscience, McGill University, Montréal, QC H3A 2B4, Canada.; Division of Experimental Medicine, McGill University, Montréal, QC H3A 2B2, Canada.; Department of Anatomy and Cell Biology, McGill University, Montréal, QC H3A 0C7, Canada., Zheng N; Department of Pharmacology, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, Department of Pharmacology, University of Washington, Seattle, WA 98195, USA., Grill B; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Department of Pharmacology, University of Washington School of Medicine, Seattle, WA 98195, USA.; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98101, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia. |
| Corporate Authors: | Undiagnosed Diseases Network |
| Source: | Brain : a journal of neurology [Brain] 2023 Apr 19; Vol. 146 (4), pp. 1373-1387. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | 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 |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2156 |
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| DOI: | 10.1093/brain/awac364 |