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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Snijders Blok, Lot; Madsen, Erik; Juusola, Jane; Gilissen, Christian; Baralle, Diana; Reijnders, Margot R F; Venselaar, Hanka; Helsmoortel, Céline; Cho, Megan T; Hoischen, Alexander; Vissers, Lisenka E L M; Koemans, Tom S; Wissink-Lindhout, Willemijn; Eichler, Evan E; Romano, Corrado; Van Esch, Hilde; Stumpel, Connie; Vreeburg, Maaike; Smeets, Eric; Oberndorff, Karin; van Bon, Bregje W M; Shaw, Marie; Gecz, Jozef; Haan, Eric; Bienek, Melanie; Jensen, Corinna; Loeys, Bart L; Van Dijck, Anke; Innes, A Micheil; Racher, Hilary; Vermeer, Sascha; Di Donato, Nataliya; Rump, Andreas; Tatton-Brown, Katrina; Parker, Michael J; Henderson, Alex; Lynch, Sally A; Fryer, Alan; Ross, Alison; Vasudevan, Pradeep; Kini, Usha; Newbury-Ecob, Ruth; Chandler, Kate; Male, Alison; Dijkstra, Sybe; Schieving, Jolanda; Giltay, Jacques; van Gassen, Koen L I; Schuurs-Hoeijmakers, Janneke; Tan, Perciliz L.
Affiliation
  • Snijders Blok L; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Madsen E; Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA.
  • Juusola J; GeneDx, Gaithersburg, MD 20877, USA.
  • Gilissen C; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK.
  • Reijnders MR; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Venselaar H; Nijmegen Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Helsmoortel C; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, 2650 Antwerp, Belgium.
  • Cho MT; GeneDx, Gaithersburg, MD 20877, USA.
  • Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Vissers LE; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Koemans TS; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Wissink-Lindhout W; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA 98195-5065, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.
  • Romano C; Pediatrics and Medical Genetics, IRCCS Associazione Oasi Maria Santissima, 94018 Troina, Italy.
  • Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
  • Stumpel C; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, 6202 AZ Maastricht, the Netherlands.
  • Vreeburg M; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, 6202 AZ Maastricht, the Netherlands.
  • Smeets E; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, 6202 AZ Maastricht, the Netherlands.
  • Oberndorff K; Department of Pediatrics, Atrium-Orbis Medical Center, 6162 BG Sittard, the Netherlands.
  • van Bon BW; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5006, Australia.
  • Shaw M; School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5006, Australia.
  • Gecz J; School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5006, Australia.
  • Haan E; School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5006, Australia; South Australian Clinical Genetics Service, SA Pathology, Adelaide, SA 5006, Australia.
  • Bienek M; Department of Human Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
  • Jensen C; Department of Human Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
  • Loeys BL; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, 2650 Antwerp, Belgium.
  • Van Dijck A; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, 2650 Antwerp, Belgium.
  • Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
  • Racher H; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
  • Vermeer S; Department of Genetics, University Medical Center Groningen, 9700 RB Groningen, the Netherlands.
  • Di Donato N; Faculty of Medicine, Carl Gustav Carus TU Dresden, 01307 Dresden, Germany.
  • Rump A; Faculty of Medicine, Carl Gustav Carus TU Dresden, 01307 Dresden, Germany.
  • Tatton-Brown K; St George's University of London, London SW17 0RE, UK.
  • Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.
  • Henderson A; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.
  • Lynch SA; National Centre for Medical Genetics, Temple Street Children's Hospital, Crumlin, Dublin 12, Ireland.
  • Fryer A; Department of Clinical Genetics, Liverpool Women's Hospital and Alder Hey Children's Hospital, Liverpool L8 7SS, UK.
  • Ross A; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Aberdeen AB25 2ZA, UK.
  • Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 5WW, UK.
  • Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford OX3 7LE, UK.
  • Newbury-Ecob R; Department of Clinical Genetics, University Hospitals, Bristol BS1 3NU, UK.
  • Chandler K; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK.
  • Male A; North East Thames Regional Genetics Service, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK.
  • Dijkstra S; ORO, Organisation for People with Intellectual Disabilities, 5751 PH Deurne, the Netherlands.
  • Schieving J; Department of Child Neurology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Giltay J; Department of Medical Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands.
  • van Gassen KL; Department of Medical Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands.
  • Schuurs-Hoeijmakers J; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Tan PL; Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA.
Am J Hum Genet ; 97(2): 343-52, 2015 Aug 06.
Article in En | MEDLINE | ID: mdl-26235985
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Sex Characteristics / Mutation, Missense / DEAD-box RNA Helicases / Wnt Signaling Pathway / Intellectual Disability Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2015 Type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Sex Characteristics / Mutation, Missense / DEAD-box RNA Helicases / Wnt Signaling Pathway / Intellectual Disability Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2015 Type: Article Affiliation country: Netherlands