المؤلفون: Singh AK; Department of Neurosurgery, Yale University, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA., Allington G; Department of Neurosurgery, Yale University, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA.; Department of Genetics, Yale University, New Haven, CT 06510, USA., Viviano S; Department of Pediatrics, Yale University, New Haven, CT 06510, USA., McGee S; GeneDx, Gaithersburg, MD 20877, USA., Kiziltug E; Department of Neurosurgery, Yale University, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA., Ma S; Department of Genetics, Yale University, New Haven, CT 06510, USA.; Department of Neuroscience, Yale University, New Haven, CT 06510, USA., Zhao S; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA.; Departments of Genetics and Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA., Mekbib KY; Department of Neurosurgery, Yale University, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA., Shohfi JP; Department of Neurosurgery, Yale University, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA., Duy PQ; Department of Neurosurgery, Yale University, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA.; Department of Neuroscience, Yale University, New Haven, CT 06510, USA., DeSpenza T Jr; Department of Neurosurgery, Yale University, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA.; Department of Neuroscience, Yale University, New Haven, CT 06510, USA., Furey CG; Department of Neurosurgery, Yale University, New Haven, CT 06510, USA., Reeves BC; Department of Neurosurgery, Yale University, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA., Smith H; Department of Neurosurgery, Yale University, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA., Sousa AMM; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA., Cherskov A; Department of Neuroscience, Yale University, New Haven, CT 06510, USA., Allocco A; Department of Neurosurgery, Yale University, New Haven, CT 06510, USA., Nelson-Williams C; Department of Genetics, Yale University, New Haven, CT 06510, USA., Haider S; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London, WC1N 1AX, UK.; UCL Centre for Advanced Research Computing, University College London, London, WC1H 9RN, UK., Rizvi SRA; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London, WC1N 1AX, UK., Alper SL; Division of Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Division of Nephrology and Vascular Biology Research Center, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA., Sestan N; Department of Genetics, Yale University, New Haven, CT 06510, USA.; Department of Pediatrics, Yale University, New Haven, CT 06510, USA., Shimelis H; Department of Radiology, Neuroradiology section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada., Walsh LK; Department of Radiology, Neuroradiology section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada., Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065, USA., Moreno-De-Luca A; Department of Radiology, Neuroradiology section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.; Department of Radiology, Diagnostic Medicine Institute, Geisinger, Danville, PA, 17822, USA., Jin SC; Departments of Genetics and Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA., Kruszka P; GeneDx, Gaithersburg, MD 20877, USA., Deniz E; Department of Pediatrics, Yale University, New Haven, CT 06510, USA., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA.; Division of Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.

المصدر: Brain : a journal of neurology [Brain] 2024 Apr 04; Vol. 147 (4), pp. 1553-1570.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Hydrocephalus*/diagnostic imaging , Hydrocephalus*/genetics , Genetic Diseases, X-Linked*, Cerebral Aqueduct/*abnormalities, Child ; Humans ; Transcription Factors/genetics ; Epigenesis, Genetic ; Eye Proteins/genetics ; Intracellular Signaling Peptides and Proteins/genetics

SCR Disease Name: Hydrocephalus, X-linked

المؤلفون: Duy PQ; Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06510, USA.; Medical Scientist Training Program, Yale University School of Medicine, New Haven, CT 06510, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA., Rakic P; Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06510, USA., Alper SL; Division of Nephrology and Vascular Biology Research Center, Beth Israel Deaconess Medical Center and Department of Medicine, Harvard Medical School, Boston, MA 02215, USA., Robert SM; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA., Kundishora AJ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA., Butler WE; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA 02114, USA., Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Sestan N; Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06510, USA., Geschwind DH; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA 02114, USA.; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Harvard Center for Hydrocephalus and Neurodevelopmental Disorders, Massachusetts General Hospital, Boston, MA 02114, USA.

المصدر: Cerebral cortex (New York, N.Y. : 1991) [Cereb Cortex] 2023 Apr 04; Vol. 33 (8), pp. 4262-4279.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 9110718 Publication Model: Print Cited Medium: Internet ISSN: 1460-2199 (Electronic) Linking ISSN: 10473211 NLM ISO Abbreviation: Cereb Cortex Subsets: MEDLINE

مواضيع طبية MeSH: Hydrocephalus*/surgery , Neural Stem Cells*, Animals ; Child ; Humans ; Brain ; Cerebral Ventricles ; Neurosurgical Procedures

المؤلفون: Duy PQ; Department of Neuroscience and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.; Medical Scientist Training Program, Yale University School of Medicine, New Haven, CT, USA., Weise SC; Molecular Immunology and Cell Biology, Life & Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germany., Marini C; Institute for Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany., Li XJ; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Center for Hearing and Balance, Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Liang D; Department of Neuroscience and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Dahl PJ; Microbial Sciences Institute, Yale University, West Haven, CT, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA., Ma S; Department of Neuroscience and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Spajic A; Department of Neuroscience and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Dong W; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Juusola J; GeneDx, Gaithersburg, MD, USA., Kiziltug E; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Kundishora AJ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Koundal S; Department of Anesthesiology, Yale University School of Medicine, New Haven, CT, USA., Pedram MZ; Department of Anesthesiology, Yale University School of Medicine, New Haven, CT, USA., Torres-Fernández LA; Molecular Immunology and Cell Biology, Life & Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germany., Händler K; Systems Medicine, Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Bonn, Germany.; Genomics and Immunoregulation, Life & Medical Sciences (LIMES) Institute, University of Bonn, Bonn, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE). PRECISE Platform for Genomics and Epigenomics at DZNE and University of Bonn, Bonn, Germany., De Domenico E; Systems Medicine, Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Bonn, Germany.; Genomics and Immunoregulation, Life & Medical Sciences (LIMES) Institute, University of Bonn, Bonn, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE). PRECISE Platform for Genomics and Epigenomics at DZNE and University of Bonn, Bonn, Germany., Becker M; Systems Medicine, Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Bonn, Germany.; Genomics and Immunoregulation, Life & Medical Sciences (LIMES) Institute, University of Bonn, Bonn, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE). PRECISE Platform for Genomics and Epigenomics at DZNE and University of Bonn, Bonn, Germany., Ulas T; Systems Medicine, Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Bonn, Germany.; Genomics and Immunoregulation, Life & Medical Sciences (LIMES) Institute, University of Bonn, Bonn, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE). PRECISE Platform for Genomics and Epigenomics at DZNE and University of Bonn, Bonn, Germany., Juranek SA; Department of Oncology, Hematology and Rheumatology, University Hospital Bonn, Bonn, Germany., Cuevas E; Stem Cells and Regenerative Medicine Section, University College London Great Ormond Street Institute of Child Health, London, UK., Hao LT; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Jux B; Molecular Immunology and Cell Biology, Life & Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germany., Sousa AMM; Department of Neuroscience and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Liu F; Department of Neuroscience and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Kim SK; Department of Neuroscience and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Li M; Department of Neuroscience and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Yang Y; Yale Stem Cell Center, Yale University School of Medicine, New Haven, CT, USA., Takeo Y; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Duque A; Department of Neuroscience and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Nelson-Williams C; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Ha Y; Department of Radiology and Biomedical Imaging, Yale University School of Medicine, New Haven, CT, USA., Selvaganesan K; Department of Radiology and Biomedical Imaging, Yale University School of Medicine, New Haven, CT, USA., Robert SM; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Singh AK; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Allington G; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Furey CG; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Timberlake AT; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Reeves BC; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Smith H; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Dunbar A; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., DeSpenza T Jr; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Goto J; Division of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Marlier A; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Moreno-De-Luca A; Department of Radiology, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, PA, USA., Yu X; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Butler WE; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Carter BS; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Lake EMR; Department of Radiology and Biomedical Imaging, Yale University School of Medicine, New Haven, CT, USA., Constable RT; Department of Radiology and Biomedical Imaging, Yale University School of Medicine, New Haven, CT, USA., Rakic P; Department of Neuroscience and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Lin H; Yale Stem Cell Center, Yale University School of Medicine, New Haven, CT, USA., Deniz E; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA., Benveniste H; Department of Anesthesiology, Yale University School of Medicine, New Haven, CT, USA., Malvankar NS; Microbial Sciences Institute, Yale University, West Haven, CT, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA., Estrada-Veras JI; Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, MD, USA.; Pediatric Subspecialty Genetics Walter Reed National Military Medical Center, Bethesda, MD, USA.; Murtha Cancer Center/Research Program, Department of Surgery, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Alper SL; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Nephrology and Vascular Biology Research Center, Beth Israel Deaconess Medical Center and Department of Medicine, Harvard Medical School, Boston, MA, USA., Schultze JL; Systems Medicine, Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Bonn, Germany.; Genomics and Immunoregulation, Life & Medical Sciences (LIMES) Institute, University of Bonn, Bonn, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE). PRECISE Platform for Genomics and Epigenomics at DZNE and University of Bonn, Bonn, Germany., Paeschke K; Department of Oncology, Hematology and Rheumatology, University Hospital Bonn, Bonn, Germany., Doetzlhofer A; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Center for Hearing and Balance, Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Wulczyn FG; Institute for Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Sestan N; Department of Neuroscience and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Kolanus W; Molecular Immunology and Cell Biology, Life & Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germany., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. kahle.kristopher@mgh.harvard.edu.; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA. kahle.kristopher@mgh.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. kahle.kristopher@mgh.harvard.edu.; Harvard Center for Hydrocephalus and Neurodevelopmental Disorders, Massachusetts General Hospital, Boston, MA, USA. kahle.kristopher@mgh.harvard.edu.

المصدر: Nature neuroscience [Nat Neurosci] 2022 Apr; Vol. 25 (4), pp. 458-473. Date of Electronic Publication: 2022 Apr 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Hydrocephalus*/cerebrospinal fluid , Hydrocephalus*/genetics, Animals ; Biomechanical Phenomena ; Brain/metabolism ; Cerebrospinal Fluid/metabolism ; Humans ; Mice ; Neurogenesis/genetics ; Tripartite Motif Proteins/genetics ; Tripartite Motif Proteins/metabolism ; Ubiquitin-Protein Ligases/genetics ; Exome Sequencing

المؤلفون: Duy PQ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA; Medical Scientist Training Program, Yale University School of Medicine, New Haven, CT, USA; Department of Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Rakic P; Department of Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Alper SL; Division of Nephrology and Vascular Biology Research Center, Beth Israel Deaconess Medical Center and Department of Medicine, Harvard Medical School, Boston, MA, USA., Butler WE; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA., Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sestan N; Department of Neuroscience, Yale University School of Medicine, New Haven, CT, USA., Geschwind DH; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; MGH Hydrocephalus and Neurodevelopmental Disorders Program, Massachusetts General Hospital, Boston, MA, USA. Electronic address: kahle.kristopher@mgh.harvard.edu.

المصدر: Neuron [Neuron] 2022 Jan 05; Vol. 110 (1), pp. 12-15.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: MEDLINE

مواضيع طبية MeSH: Hydrocephalus*/genetics , Neural Stem Cells*/pathology, Cerebral Ventricles ; Humans

المؤلفون: Jin SC; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Dong W; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Kundishora AJ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Panchagnula S; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Moreno-De-Luca A; Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology, Geisinger, Danville, PA, USA., Furey CG; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.; Department of Neurosurgery, Barrow Neurological Institute, Phoenix, AZ, USA., Allocco AA; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Walker RL; Department of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Nelson-Williams C; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Smith H; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Dunbar A; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Conine S; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Lu Q; Department of Biostatistics & Medical Informatics, University of Wisconsin, Madison, WI, USA., Zeng X; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Sierant MC; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Knight JR; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Sullivan W; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Duy PQ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., DeSpenza T; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Reeves BC; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Karimy JK; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Marlier A; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Castaldi C; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Tikhonova IR; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Li B; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Peña HP; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London, UK., Broach JR; Institute for Personalized Medicine, The Penn State College of Medicine, Hershey, PA, USA., Kabachelor EM; CURE Children's Hospital of Uganda, Mbale, Uganda., Ssenyonga P; CURE Children's Hospital of Uganda, Mbale, Uganda., Hehnly C; Departments of Neurosurgery, Engineering Science & Mechanics, and Physics; Center for Neural Engineering and Infectious Disease Dynamics, The Pennsylvania State University, University Park, PA, USA., Ge L; Department of Biostatistics & Medical Informatics, University of Wisconsin, Madison, WI, USA., Keren B; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau, Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme', Paris, France., Timberlake AT; Hansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center, New York, NY, USA., Goto J; Division of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Mangano FT; Division of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Johnston JM; Department of Neurosurgery, University of Alabama School of Medicine, Birmingham, AL, USA., Butler WE; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Warf BC; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Smith ER; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Schiff SJ; Departments of Neurosurgery, Engineering Science & Mechanics, and Physics; Center for Neural Engineering and Infectious Disease Dynamics, The Pennsylvania State University, University Park, PA, USA., Limbrick DD Jr; Department of Neurological Surgery and Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Heuer G; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Jackson EM; Department of Neurosurgery, Johns Hopkins School of Medicine, Baltimore, MD, USA., Iskandar BJ; Department of Neurological Surgery, University of Wisconsin Medical School, Madison, WI, USA., Mane S; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Haider S; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London, UK., Guclu B; Kartal Dr. Lutfi Kirdar Research and Training Hospital, Istanbul, Turkey., Bayri Y; Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey., Sahin Y; Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey., Duncan CC; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Apuzzo MLJ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., DiLuna ML; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Hoffman EJ; Yale Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Sestan N; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA., Ment LR; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Department of Neurology, Yale University School of Medicine, New Haven, CT, USA., Alper SL; Division of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, Department of Medicine, Harvard Medical School, Boston, MA, USA., Bilguvar K; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Geschwind DH; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Günel M; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Kahle KT; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. kristopher.kahle@yale.edu.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA. kristopher.kahle@yale.edu.; Department of Cellular & Molecular Physiology, Yale University School of Medicine, New Haven, CT, USA. kristopher.kahle@yale.edu.

المصدر: Nature medicine [Nat Med] 2020 Nov; Vol. 26 (11), pp. 1754-1765. Date of Electronic Publication: 2020 Oct 19.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Cerebral Ventricles/*metabolism , Hydrocephalus/*genetics , Neurogenesis/*genetics, Brain/diagnostic imaging ; Brain/pathology ; Cerebral Ventricles/diagnostic imaging ; Cerebral Ventricles/pathology ; Exome/genetics ; Female ; Humans ; Hydrocephalus/cerebrospinal fluid ; Hydrocephalus/diagnostic imaging ; Hydrocephalus/pathology ; Male ; Mutation/genetics ; Neural Stem Cells/metabolism ; Neural Stem Cells/pathology ; Neuroglia/metabolism ; Neuroglia/pathology ; Transcription Factors/genetics ; Tripartite Motif Proteins/genetics ; Ubiquitin-Protein Ligases/genetics ; Exome Sequencing