Show simple item record

dc.contributor.authorVillanueva, Pía
dc.contributor.authorNudel, Ron
dc.contributor.authorHoischen, Alexander
dc.contributor.authorFernández, María Angélica
dc.contributor.authorSimpson, Nuala H
dc.contributor.authorGilissen, Christian
dc.contributor.authorReader, Rose H
dc.contributor.authorJara, Lillian
dc.contributor.authorEcheverry, Maria Magdalena
dc.contributor.authorFrancks, Clyde
dc.contributor.authorBaird, Gillian
dc.contributor.authorConti-Ramsden, Gina
dc.contributor.authorO'Hare, Anne
dc.contributor.authorBolton, Patrick F
dc.contributor.authorHennessy, Elizabeth R
dc.contributor.authorPalomino, Hernán
dc.contributor.authorCarvajal-Carmona, Luis
dc.contributor.authorVeltman, Joris A
dc.contributor.authorCazier, Jean-Baptiste
dc.contributor.authorDe Barbieri, Zulema
dc.contributor.authorFisher, Simon E
dc.contributor.authorNewbury, Dianne F
dc.contributor.authorSLI Consortium
dc.date.accessioned2015-04-13T13:34:01Z
dc.date.available2015-04-13T13:34:01Z
dc.date.issued2015-03-17
dc.identifier.citationVillanueva , P , Nudel , R , Hoischen , A , Fernández , M A , Simpson , N H , Gilissen , C , Reader , R H , Jara , L , Echeverry , M M , Francks , C , Baird , G , Conti-Ramsden , G , O'Hare , A , Bolton , P F , Hennessy , E R , Palomino , H , Carvajal-Carmona , L , Veltman , J A , Cazier , J-B , De Barbieri , Z , Fisher , S E , Newbury , D F & SLI Consortium 2015 , ' Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment ' PLoS Genetics , vol. 11 , no. 3 , e1004925 . DOI: 10.1371/journal.pgen.1004925en
dc.identifier.issn1553-7390
dc.identifier.otherPURE: 49707308
dc.identifier.otherPURE UUID: 31274a09-aab8-4a3a-9224-b06b5d7c8954
dc.identifier.otherPubMed: 25781923
dc.identifier.otherScopus: 84989775097
dc.identifier.urihttp://hdl.handle.net/2164/4408
dc.descriptionCopyright: © 2015 Villanueva et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Data Availability: Data used in this paper come from a small and well-defined population. To protect the identity of individuals, these confidential data are not publically available. Data are available from the University of Chile Ethics Committee for researchers who meet the criteria for access to confidential data. Acknowledgments: We would like to thank all the families, professionals and individuals who participated in this research. In particular we are extremely grateful to the inhabitants of Robinson Crusoe Island who have agreed to participate in this study. We would also like to thank Mr. Felipe Paredes, the mayor of the Ilustre Municipalidad de Juan Fernández for his infinite assistance and patience in the development of this research. Also to the authorities of schools of medicine and dentistry for giving us the necessary permits to travel to the island of Juan Fernandez. We are very grateful to all members of the SLI Consortium for their contributions to this work: V. Slonims (Newcomen Centre, Evelina Children’s Hospital, London, UK), A. Clark, J Watson (Speech and Hearing Sciences, Queen Margaret University, Edinburgh, UK), E. Simonoff, A Pickles (King’s College London, Institute of Psychiatry); A. Everitt (University Child Health and DMDE, University of Aberdeen); J. Seckl (Molecular Medicine Centre, University of Edinburgh); H. Cowie (Department of Speech and Language Therapy, Royal Hospital for Sick Children, Edinburgh); W. Cohen (Psychological Sciences and Health, University of Strathclyde); J. Nasir (Division of Biomedical Sciences, St George’s University of London); D.V.M. Bishop (Department of Experimental Psychology, University of Oxford); Z. Simkin (School of Psychological Sciences, University of Manchester). Funding: DFN and the work of the Newbury lab are funded by an MRC Career Development Fellow and a Junior Research Fellow at St John’s College, University of Oxford. The work of the Newbury lab is funded by the Medical Research Council [G1000569/1]. The Robinson Crusoe project is funded by the Medical Research Council [MR/J003719/1]. The collection of DNA samples and characterisation of the Robinson Crusoe population was funded by Vicerrectoría de Investigación, Universidad de Chile (www.uchile.cl), UCHILE DID TNAC 01-02/01, UCHILE DI MULT 05-05/02 grants. RN is funded by a University of Oxford Nuffield Department of Medicine Prize Studentship. SEF and CF are supported by the Max Planck Society, who also funded the exome sequencing. LCC and MME receive funding from the European Union FP7 CHIBCHA Consortium, GSK Oncology (Ethnic Research Initiative), Colciencias, Cancer Research UK and Universidad del Tolima. LCC receives funding from the University of California Davis, The V Foundation for Cancer Research, and The National Institute On Aging (award number P30AG043097) and The National Cancer Institute (Award number K12CA138464) of the National Institutes of Health. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The collection of the SLIC samples was supported by the Wellcome Trust (060774and 076566). PFB is supported by a National Institute of Health Research (UK) Senior Investigator award and the Biomedical Research Centre in Mental Health at the South London & Maudsley NHS Trust Hospital, London. The High-Throughput Genomics Group at the Wellcome Trust Centre for Human Genetics is funded by the Wellcome Trust [090532/Z/09/Z] and the MRC [G0900747 91070]. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.en
dc.language.isoeng
dc.relation.ispartofPLoS Geneticsen
dc.rightsThis is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0/en
dc.subjectQH426 Geneticsen
dc.subject.lccQH426en
dc.titleExome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairmenten
dc.typeJournal articleen
dc.contributor.institutionUniversity of Aberdeen, Medical Educationen
dc.description.statusPeer revieweden
dc.description.versionPublisher PDFen
dc.identifier.doihttps://doi.org/10.1371/journal.pgen.1004925


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record