Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.

Autor: 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.

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

Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus.

Autor: Furey CG; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut, USA., Zeng X; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Dong W; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Jin SC; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York, USA., Choi J; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York, USA., Timberlake AT; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York, USA., Dunbar AM; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut, USA., Allocco AA; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut, USA., Günel M; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut, USA; Department of Neurosurgery, Pediatrics, and Cellular & Molecular Physiology, Yale School of Medicine, New Haven, Connecticut, USA., Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York, USA; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Kahle KT; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut, USA; Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, Connecticut, USA; Department of Neurosurgery, Pediatrics, and Cellular & Molecular Physiology, Yale School of Medicine, New Haven, Connecticut, USA.

Publikováno v: World neurosurgery [World Neurosurg] 2018 Nov; Vol. 119, pp. 441-443. Date of Electronic Publication: 2018 Sep 08.