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- August 30, 2018.
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- Version 1 (January 30, 2018 - 08:17).
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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-ND 4.0 International license.
Author Information
- Jenny Lord1,
- Giuseppe Gallone1,
- Patrick J. Short1,
- Jeremy F. McRae1,
- Holly Ironfield1,
- Elizabeth H. Wynn1,
- Sebastian S. Gerety1,
- Liu He1,
- Bronwyn Kerr2,3,
- Diana S. Johnson4,
- Emma McCann5,
- Esther Kinning6,
- Frances Flinter7,
- I. Karen Temple8,9,
- Jill Clayton-Smith2,3,
- Meriel McEntagart10,
- Sally Ann Lynch11,
- Shelagh Joss12,
- Sofia Douzgou2,3,
- Tabib Dabir13,
- Virginia Clowes14,
- Vivienne P. M. McConnell13,
- Wayne Lam15,
- Caroline F. Wright16,
- David R. FitzPatrick1,15,
- Helen V. Firth1,17,
- Jeffrey C. Barrett1,
- Matthew E. Hurles1,
- on behalf of the Deciphering Developmental Disorders study
- 1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
- 2Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre
- 3Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester
- 4Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, OPD2, Northern General Hospital, Herries Road, Sheffield, S5 7AU
- 5Liverpool Women’s Hospital Foundation Trust, Crown Street, Liverpool, L8 7SS
- 6West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute of Medical Genetics, Yorkhill Hospital, Glasgow G3 8SJ, UK
- 7South East Thames Regional Genetics Centre, Guy’s and St Thomas’ NHS Foundation Trust, Guy’s Hospital, Great Maze Pond, London SE1 9RT, UK
- 8Faculty of Medicine, University of Southampton, Institute of Developmental Sciences, Tremona Road, Southampton SO16 6YD
- 9Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK
- 10South West Thames Regional Genetics Centre, St George’s Healthcare NHS Trust, St George’s, University of London, Cranmer Terrace, London SW17 0RE, UK
- 11Temple Street Children’s Hospital, Dublin 1, Ireland
- 12West of Scotland Regional Genetics Service, NHS Greater Glasgow & Clyde, Level 2, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow G51 4TF
- 13Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK
- 14North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park and St Mark’s Hospitals, Watford Road, Harrow HA1 3UJ, UK
- 15MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK
- 16Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Level 4, ED&E, Barrack Road, Exeter, EX2 5DW, UK
- 17East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
- CONTACT DETAILS OF CORRESPONDING AUTHOR:
Matthew E. Hurles, meh{at}sanger.ac.uk Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK