Diagnostic value of exome and whole genome sequencing in craniosynostosis

Kerry A Miller; Stephen R F Twigg; Simon J McGowan; Julie M Phipps; Aimée L Fenwick; David Johnson; Steven A Wall; Peter Noons; Katie E M Rees; Elizabeth A Tidey; Judith Craft; John Taylor; Jenny C Taylor; Jacqueline A C Goos; Sigrid M A Swagemakers; Irene M J Mathijssen; Peter J van der Spek; Helen Lord; Tracy Lester; Noina Abid; Deirdre Cilliers; Jane A Hurst; Jenny E V Morton; Elizabeth Sweeney; Astrid Weber; Louise C Wilson; Andrew O M Wilkie

doi:10.1136/jmedgenet-2016-104215

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Diagnostic value of exome and whole genome sequencing in craniosynostosis

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Kerry A Miller Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK PubMed articles Google scholar articles
Stephen R F Twigg Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK PubMed articles Google scholar articles
Simon J McGowan Computational Biology Research Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK PubMed articles Google scholar articles
Julie M Phipps Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Aimée L Fenwick Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK PubMed articles Google scholar articles
David Johnson Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Steven A Wall Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Peter Noons Department of Craniofacial Surgery, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK PubMed articles Google scholar articles
Katie E M Rees North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK PubMed articles Google scholar articles
Elizabeth A Tidey North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK PubMed articles Google scholar articles
Judith Craft Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
John Taylor Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Jenny C Taylor Oxford Biomedical Research Centre, National Institute for Health Research, Oxford, UK Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK PubMed articles Google scholar articles
Jacqueline A C Goos Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands PubMed articles Google scholar articles
Sigrid M A Swagemakers Department of Bioinformatics, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands PubMed articles Google scholar articles
Irene M J Mathijssen Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands PubMed articles Google scholar articles
Peter J van der Spek Department of Bioinformatics, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands PubMed articles Google scholar articles
Helen Lord Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Tracy Lester Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Noina Abid Department of Paediatric Endocrinology, The Royal Belfast Hospital for Sick Children, Belfast, UK PubMed articles Google scholar articles
Deirdre Cilliers Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Jane A Hurst North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK PubMed articles Google scholar articles
Jenny E V Morton Clinical Genetics Unit, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK PubMed articles Google scholar articles
Elizabeth Sweeney Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK PubMed articles Google scholar articles
Astrid Weber Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK PubMed articles Google scholar articles
Louise C Wilson North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK PubMed articles Google scholar articles
Andrew O M Wilkie Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles

Correspondence to Professor Andrew O M Wilkie, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; andrew.wilkie{at}imm.ox.ac.uk

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Citation

Miller KA, Twigg SRF, McGowan SJ, et al

Diagnostic value of exome and whole genome sequencing in craniosynostosis

Journal of Medical Genetics 2017;54:260-268.

Publication history

Received August 24, 2016
Revised September 26, 2016
Accepted October 19, 2016
First published November 24, 2016.

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March 22, 2017

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