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Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
Sadler, Brooke; Wilborn, Jackson; Antunes, Lilian; Kuensting, Timothy; Hale, Andrew T; Gannon, Stephen R; McCall, Kevin; Cruchaga, Carlos; Harms, Matthew; Voisin, Norine; Reymond, Alexandre; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Tartaglia, Marco; Niceta, Marcello; Leoni, Chiara; Zampino, Giuseppe; Ashley-Koch, Allison; Urbizu, Aintzane; Garrett, Melanie E; Soldano, Karen; Macaya, Alfons; Conrad, Donald; Strahle, Jennifer; Dobbs, Matthew B; Turner, Tychele N; Shannon, Chevis N; Brockmeyer, Douglas; Limbrick, David D; Gurnett, Christina A; Haller, Gabe.
Afiliação
  • Sadler B; Department of Pediatrics, Washington University, St. Louis, MO 63110, USA.
  • Wilborn J; Department of Neurosurgery, Washington University, St. Louis, MO 63110, USA.
  • Antunes L; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110, USA.
  • Kuensting T; Department of Neurosurgery, Washington University, St. Louis, MO 63110, USA.
  • Hale AT; Division of Genetic Medicine, Vanderbilt University Medical Center & Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
  • Gannon SR; Division of Pediatric Neurosurgery and Surgical Outcomes Center for Kids, Monroe Carell Jr. Children's Hospital of Vanderbilt University, Nashville, TN 37232, USA.
  • McCall K; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110, USA.
  • Cruchaga C; Department of Psychiatry, Washington University, St. Louis, MO 63110, USA.
  • Harms M; Department of Neurology, Columbia University, New York, NY 10027, USA.
  • Voisin N; Center for Integrative Genomics (CIG), University of Lausanne, Lausanne 1015, Switzerland.
  • Reymond A; Center for Integrative Genomics (CIG), University of Lausanne, Lausanne 1015, Switzerland.
  • Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80138, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli 80078, Italy.
  • Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80138, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli 80078, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00165, Italy.
  • Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00165, Italy.
  • Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione-Policlinico-Universitario-A. Gemelli-IRCCS, Rome 00168, Italy.
  • Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione-Policlinico-Universitario-A. Gemelli-IRCCS, Rome 00168, Italy.
  • Ashley-Koch A; Duke Molecular Physiology Institute, Department of Medicine, Duke University, Durham, NC 27708, USA.
  • Urbizu A; Duke Molecular Physiology Institute, Department of Medicine, Duke University, Durham, NC 27708, USA.
  • Garrett ME; Duke Molecular Physiology Institute, Department of Medicine, Duke University, Durham, NC 27708, USA.
  • Soldano K; Duke Molecular Physiology Institute, Department of Medicine, Duke University, Durham, NC 27708, USA.
  • Macaya A; Pediatric Neurology Research group, University Hospital Vall d'Hebron, Barcelona 08035, Spain.
  • Conrad D; Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR 97006, USA.
  • Strahle J; Department of Neurosurgery, Washington University, St. Louis, MO 63110, USA.
  • Dobbs MB; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110, USA; Shriners Hospital for Children, St. Louis, MO 63110, USA.
  • Turner TN; Department of Genetics, Washington University, St. Louis, MO 63110, USA.
  • Shannon CN; Division of Genetic Medicine, Vanderbilt University Medical Center & Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
  • Brockmeyer D; Department of Neurological Surgery, University of Utah, Primary Children's Hospital, Salt Lake City, UT 84113, USA.
  • Limbrick DD; Department of Neurosurgery, Washington University, St. Louis, MO 63110, USA.
  • Gurnett CA; Department of Pediatrics, Washington University, St. Louis, MO 63110, USA; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110, USA; Department of Neurology, Washington University, St. Louis, MO 63110, USA.
  • Haller G; Department of Neurosurgery, Washington University, St. Louis, MO 63110, USA; Department of Neurology, Washington University, St. Louis, MO 63110, USA; Department of Genetics, Washington University, St. Louis, MO 63110, USA. Electronic address: ghaller@wustl.edu.
Am J Hum Genet ; 108(1): 100-114, 2021 01 07.
Article em En | MEDLINE | ID: mdl-33352116
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Observational_studies Limite: Adult / Animals / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Observational_studies Limite: Adult / Animals / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article