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Cognitive and behavioural genetics
Original article
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

Authors

  • Janneke H M Schuurs-Hoeijmakers Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Anneke T Vulto-van Silfhout Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Unit of Pediatrics and Medical Genetics, Unit of Neurology, Laboratory of Medical Genetics IRCCS Associazione Oasi Maria Santissima, Troina, Italy PubMed articlesGoogle scholar articles
  • Lisenka E L M Vissers Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Ilse I G M van de Vondervoort Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Bregje W M van Bon Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Joep de Ligt Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Christian Gilissen Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Jayne Y Hehir-Kwa Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Kornelia Neveling Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Marisol del Rosario Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Gausiya Hira Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Santina Reitano Unit of Pediatrics and Medical Genetics, Unit of Neurology, Laboratory of Medical Genetics IRCCS Associazione Oasi Maria Santissima, Troina, Italy PubMed articlesGoogle scholar articles
  • Aurelio Vitello Unit of Pediatrics and Medical Genetics, Unit of Neurology, Laboratory of Medical Genetics IRCCS Associazione Oasi Maria Santissima, Troina, Italy PubMed articlesGoogle scholar articles
  • Pinella Failla Unit of Pediatrics and Medical Genetics, Unit of Neurology, Laboratory of Medical Genetics IRCCS Associazione Oasi Maria Santissima, Troina, Italy PubMed articlesGoogle scholar articles
  • Donatella Greco Unit of Pediatrics and Medical Genetics, Unit of Neurology, Laboratory of Medical Genetics IRCCS Associazione Oasi Maria Santissima, Troina, Italy PubMed articlesGoogle scholar articles
  • Marco Fichera Unit of Pediatrics and Medical Genetics, Unit of Neurology, Laboratory of Medical Genetics IRCCS Associazione Oasi Maria Santissima, Troina, Italy Department of Medical Genetics, University of Catania, Catania, Italy PubMed articlesGoogle scholar articles
  • Ornella Galesi Unit of Pediatrics and Medical Genetics, Unit of Neurology, Laboratory of Medical Genetics IRCCS Associazione Oasi Maria Santissima, Troina, Italy PubMed articlesGoogle scholar articles
  • Tjitske Kleefstra Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Marie T Greally National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland PubMed articlesGoogle scholar articles
  • Charlotte W Ockeloen Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Marjolein H Willemsen Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Ernie M H F Bongers Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Irene M Janssen Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Rolph Pfundt Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Joris A Veltman Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Corrado Romano Unit of Pediatrics and Medical Genetics, Unit of Neurology, Laboratory of Medical Genetics IRCCS Associazione Oasi Maria Santissima, Troina, Italy PubMed articlesGoogle scholar articles
  • Michèl A Willemsen Departments of Pediatric Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Hans van Bokhoven Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Han G Brunner Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Bert B A de Vries Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Arjan P M de Brouwer Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Bert B A de Vries, Department of Human Genetics 836, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen NL-6500 HB, The Netherlands; B.devries{at}gen.umcn.nl
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Citation

Schuurs-Hoeijmakers JHM, Vulto-van Silfhout AT, Vissers ELM, et al
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
Journal of Medical Genetics 2013;50:802-811.

Publication history

  • Received March 5, 2013
  • Revised September 6, 2013
  • Accepted September 7, 2013
  • First published October 11, 2013.
Online issue publication 
June 25, 2018

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