Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment

• Pía Villanueva ,

  * E-mail: piavillahk@uchile.cl (PV, linguistic and population queries); dianne@well.ox.ac.uk (DFN, genetic queries)

  ¶‡ These authors contributed equally to this work.

  Affiliations Human Genetics Program, Institute of Biomedical Sciences (ICBM), Faculty of Medicine, University of Chile, Santiago, Chile, School of Speech and Hearing Therapy, Faculty of Medicine, University of Chile, Santiago, Chile, Department of Child and Dental Maxillary Orthopedics, Faculty of Dentistry, University of Chile, Santiago, Chile, Doctoral Program of Psychology, Graduate School, University of Granada, Granada, Spain

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• Ron Nudel ,

  ¶‡ These authors contributed equally to this work.

  Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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• Alexander Hoischen,

  Affiliation Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands

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• María Angélica Fernández,

  Affiliation School of Speech and Hearing Therapy, Faculty of Medicine, University of Chile, Santiago, Chile

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• Nuala H. Simpson,

  Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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• Christian Gilissen,

  Affiliation Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands

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• Rose H. Reader,

  Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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• Lillian Jara,

  Affiliation Human Genetics Program, Institute of Biomedical Sciences (ICBM), Faculty of Medicine, University of Chile, Santiago, Chile

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• Maria Magdalena Echeverry,

  Affiliation Grupo de Citogenetica, Filogenia y Evolucion de las Poblaciones, Facultades de Ciencias y de Ciencias de la Salud, Universidad del Tolima, Ibague, Colombia

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• Clyde Francks,

  Affiliations Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands

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• Gillian Baird ,

  ¶On behalf of the SLI Consortium. Membership of the SLI consortium is listed in acknowledgments.

  Affiliation Newcomen Centre, the Evelina Children’s Hospital, London, United Kingdom

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• Gina Conti-Ramsden ,

  ¶On behalf of the SLI Consortium. Membership of the SLI consortium is listed in acknowledgments.

  Affiliation School of Psychological Sciences, University of Manchester, Manchester, United Kingdom

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• Anne O’Hare ,

  ¶On behalf of the SLI Consortium. Membership of the SLI consortium is listed in acknowledgments.

  Affiliation Department of Reproductive and Developmental Sciences, University of Edinburgh, Edinburgh, United Kingdom

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• Patrick F. Bolton ,

  ¶On behalf of the SLI Consortium. Membership of the SLI consortium is listed in acknowledgments.

  Affiliation Departments of Child & Adolescent Psychiatry & Social Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, King’s College London, London, United Kingdom

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• Elizabeth R. Hennessy ,

  ¶On behalf of the SLI Consortium. Membership of the SLI consortium is listed in acknowledgments.

  Affiliation University Child Health and DMDE, University of Aberdeen, Aberdeen, United Kingdom

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• the SLI Consortium ,

  ¶On behalf of the SLI Consortium. Membership of the SLI consortium is listed in acknowledgments.

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• Hernán Palomino,

  Affiliation Department of Child and Dental Maxillary Orthopedics, Faculty of Dentistry, University of Chile, Santiago, Chile

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• Luis Carvajal-Carmona,

  Affiliations Grupo de Citogenetica, Filogenia y Evolucion de las Poblaciones, Facultades de Ciencias y de Ciencias de la Salud, Universidad del Tolima, Ibague, Colombia, UC Davis Genome Center, Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Davis, California, United States of America

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• Joris A. Veltman,

  Affiliation Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands

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• Jean-Baptiste Cazier,

  Affiliations Department of Oncology, University of Oxford, Oxford, United Kingdom, Centre for Computational Biology, University of Birmingham, Edgbaston, United Kingdom

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• Zulema De Barbieri,

  Affiliation School of Speech and Hearing Therapy, Faculty of Medicine, University of Chile, Santiago, Chile

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• Simon E. Fisher ,

  Contributed equally to this work with: Simon E. Fisher, Dianne F. Newbury

  ¶On behalf of the SLI Consortium. Membership of the SLI consortium is listed in acknowledgments.

  Affiliations Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands

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•  [ ... ],
• Dianne F. Newbury

  Contributed equally to this work with: Simon E. Fisher, Dianne F. Newbury

  * E-mail: piavillahk@uchile.cl (PV, linguistic and population queries); dianne@well.ox.ac.uk (DFN, genetic queries)

  ¶On behalf of the SLI Consortium. Membership of the SLI consortium is listed in acknowledgments.

  Affiliations Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, St Johns College, University of Oxford, Oxford, United Kingdom

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