De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.
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| Title: | De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly. |
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| Authors: | Allington G; Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.; Department of Neurology, New York Presbyterian Hospital & Columbia University Vagelos College of Physicians and Surgeons, New York, NY 10032, USA., Mehta NH; Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114, USA., Dennis E; Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114, USA., Mekbib KY; Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA., Reeves B; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA., Kiziltug E; Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA., Chen S; School of Pharmacy, University College London, London WC1E 6BT, UK., Zhao S; Department of Genetics, School of Medicine, Washington University, St. Louis, MO 63110, USA., Duy PQ; Department of Neurosurgery, University of Virginia School of Medicine, Charlottesville, VA 22903, USA.; Department of Neuroscience, University of Virginia School of Medicine, Charlottesville, VA 22903, USA.; Center for Brain Immunology and Glia, University of Virginia School of Medicine, Charlottesville, VA 22903, USA., Saleh M; Clinical Genetics, Department of Pediatrics, London Health Sciences Centre, London, Ontario N6A 5W9, Canada., Ang LC; Department of Pathology, London Health Sciences Centre and Western University, London, Ontario N6A 5C1, Canada., Fan B; Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114, USA., Nelson-Williams C; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA., Moreno-de-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario K7L 2V7, Canada., Haider S; School of Pharmacy, University College London, London WC1E 6BT, UK., Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065, USA., Alper SL; Division of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., McGee S; GeneDx, Gaithersburg, MD 20877, USA., Jin SC; Department of Genetics, School of Medicine, Washington University, St. Louis, MO 63110, USA.; Department of Pediatrics, School of Medicine, Washington University, St. Louis, MO 63110, USA., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.; Harvard Center for Hydrocephalus and Neurodevelopmental Disorders, Massachusetts General Hospital, Boston, MA 02114, USA. |
| Source: | Brain : a journal of neurology [Brain] 2025 May 13; Vol. 148 (5), pp. 1817-1828. |
| Publication Type: | Journal Article |
| 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/awae395 |
