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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.
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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  Data: De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.
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  Data: <searchLink fieldCode="AU" term="%22Allington+G%22">Allington G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mehta+NH%22">Mehta NH</searchLink>; Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22Dennis+E%22">Dennis E</searchLink>; Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22Mekbib+KY%22">Mekbib KY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Reeves+B%22">Reeves B</searchLink>; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.<br /><searchLink fieldCode="AU" term="%22Kiziltug+E%22">Kiziltug E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chen+S%22">Chen S</searchLink>; School of Pharmacy, University College London, London WC1E 6BT, UK.<br /><searchLink fieldCode="AU" term="%22Zhao+S%22">Zhao S</searchLink>; Department of Genetics, School of Medicine, Washington University, St. Louis, MO 63110, USA.<br /><searchLink fieldCode="AU" term="%22Duy+PQ%22">Duy PQ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Saleh+M%22">Saleh M</searchLink>; Clinical Genetics, Department of Pediatrics, London Health Sciences Centre, London, Ontario N6A 5W9, Canada.<br /><searchLink fieldCode="AU" term="%22Ang+LC%22">Ang LC</searchLink>; Department of Pathology, London Health Sciences Centre and Western University, London, Ontario N6A 5C1, Canada.<br /><searchLink fieldCode="AU" term="%22Fan+B%22">Fan B</searchLink>; Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22Nelson-Williams+C%22">Nelson-Williams C</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.<br /><searchLink fieldCode="AU" term="%22Moreno-de-Luca+A%22">Moreno-de-Luca A</searchLink>; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario K7L 2V7, Canada.<br /><searchLink fieldCode="AU" term="%22Haider+S%22">Haider S</searchLink>; School of Pharmacy, University College London, London WC1E 6BT, UK.<br /><searchLink fieldCode="AU" term="%22Lifton+RP%22">Lifton RP</searchLink>; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065, USA.<br /><searchLink fieldCode="AU" term="%22Alper+SL%22">Alper SL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22McGee+S%22">McGee S</searchLink>; GeneDx, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Jin+SC%22">Jin SC</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kahle+KT%22">Kahle KT</searchLink>; 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.
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        Value: 10.1093/brain/awae395
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