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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Hijazi, Hadia; Reis, Linda M; Pehlivan, Davut; Bernstein, Jonathan A; Muriello, Michael; Syverson, Erin; Bonner, Devon; Estiar, Mehrdad A; Gan-Or, Ziv; Rouleau, Guy A; Lyulcheva, Ekaterina; Greenhalgh, Lynn; Tessarech, Marine; Colin, Estelle; Guichet, Agnès; Bonneau, Dominique; van Jaarsveld, R H; Lachmeijer, A M A; Ruaud, Lyse; Levy, Jonathan; Tabet, Anne-Claude; Ploski, Rafal; Rydzanicz, Malgorzata; Kepczynski, Lukasz; Polatynska, Katarzyna; Li, Yidan; Fatih, Jawid M; Marafi, Dana; Rosenfeld, Jill A; Coban-Akdemir, Zeynep; Bi, Weimin; Gibbs, Richard A; Hobson, Grace M; Hunter, Jill V; Carvalho, Claudia M B; Posey, Jennifer E; Semina, Elena V; Lupski, James R.
Afiliación
  • Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Jan
  • Bernstein JA; Department of Pediatrics, Division of Medical Genetics, Stanford School of Medicine, Stanford, CA, USA.
  • Muriello M; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA.
  • Syverson E; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA.
  • Bonner D; Department of Pediatrics, Division of Medical Genetics, Stanford School of Medicine, Stanford, CA, USA.
  • Estiar MA; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.
  • Gan-Or Z; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada; Department of Neurology & Neurosurgery, McGill University, Montreal, QC, Canada.
  • Rouleau GA; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada; Department of Neurology & Neurosurgery, McGill University, Montreal, QC, Canada.
  • Lyulcheva E; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.
  • Greenhalgh L; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.
  • Tessarech M; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France.
  • Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France.
  • Guichet A; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France.
  • Bonneau D; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France.
  • van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Lachmeijer AMA; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Ruaud L; INSERM UMR1141, Neurodiderot, University of Paris, 75019 Paris, France; APHP.Nord, Robert Debré University Hospital, Department of Genetics, 75019 Paris, France.
  • Levy J; APHP.Nord, Robert Debré University Hospital, Department of Genetics, 75019 Paris, France.
  • Tabet AC; APHP.Nord, Robert Debré University Hospital, Department of Genetics, 75019 Paris, France.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Kepczynski L; Department of Genetics, Polish Mother's Memorial Hospital - Research Institute, Lódz, Poland.
  • Polatynska K; Department of Developmental Neurology an Epileptology, Polish Mother's Memorial Hospital - Research Institute, Lódz, Poland.
  • Li Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Hobson GM; Department of Research, Nemours Children's Health, Wilmington, DE, USA.
  • Hunter JV; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX, USA.
  • Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Semina EV; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA; Departments of Ophthalmology and Visual Sciences and Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address: es
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic addr
Am J Hum Genet ; 109(12): 2270-2282, 2022 12 01.
Article en En | MEDLINE | ID: mdl-36368327
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Discapacidad Intelectual Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Discapacidad Intelectual Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article