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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok, Lot; Hiatt, Susan M; Bowling, Kevin M; Prokop, Jeremy W; Engel, Krysta L; Cochran, J Nicholas; Bebin, E Martina; Bijlsma, Emilia K; Ruivenkamp, Claudia A L; Terhal, Paulien; Simon, Marleen E H; Smith, Rosemarie; Hurst, Jane A; McLaughlin, Heather; Person, Richard; Crunk, Amy; Wangler, Michael F; Streff, Haley; Symonds, Joseph D; Zuberi, Sameer M; Elliott, Katherine S; Sanders, Victoria R; Masunga, Abigail; Hopkin, Robert J; Dubbs, Holly A; Ortiz-Gonzalez, Xilma R; Pfundt, Rolph; Brunner, Han G; Fisher, Simon E; Kleefstra, Tjitske; Cooper, Gregory M.
Afiliación
  • Snijders Blok L; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
  • Hiatt SM; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
  • Bowling KM; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
  • Prokop JW; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.
  • Engel KL; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.
  • Cochran JN; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.
  • Bebin EM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.
  • Bijlsma EK; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.
  • Ruivenkamp CAL; University of Alabama at Birmingham, Birmingham, AL, USA.
  • Terhal P; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Simon MEH; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Smith R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Hurst JA; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • McLaughlin H; Great Ormond Street Hospital for Children, London, UK.
  • Crunk A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.
  • Wangler MF; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.
  • Streff H; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.
  • Symonds JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Zuberi SM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Elliott KS; Paediatric Neurosciences Research Group, University of Glasgow and Royal Hospital for Children, Glasgow, G51 4TF, UK.
  • Sanders VR; Paediatric Neurosciences Research Group, University of Glasgow and Royal Hospital for Children, Glasgow, G51 4TF, UK.
  • Masunga A; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Hopkin RJ; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
  • Dubbs HA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Ortiz-Gonzalez XR; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Pfundt R; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
  • Brunner HG; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Fisher SE; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Kleefstra T; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
  • Cooper GM; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Hum Genet ; 137(5): 375-388, 2018 May.
Article en En | MEDLINE | ID: mdl-29740699
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Secuencia de Aminoácidos / Eliminación de Secuencia / Mutación Missense / Complejo Mediador / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Secuencia de Aminoácidos / Eliminación de Secuencia / Mutación Missense / Complejo Mediador / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos