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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Jeremy F McRae, Stephen Clayton, Tomas W Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, AlejandroW Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M Barrett, Tanya Bayzetinova, Philip Jones, Wendy D Jones, Daniel King, Netravathi Krishnappa, Laura E Mason, Tarjinder Singh, Adrian R Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton-Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D'Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, AndrewW Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V.K Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Jenny Morton, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O'Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellaker, Michael J Parker, Helen V Firth, Caroline F Wright, David R FitzPatrick, Jeffrey C Barrett, Matthew E Hurles
doi: https://doi.org/10.1101/049056
Jeremy F McRae
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Stephen Clayton
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Tomas W Fitzgerald
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Joanna Kaplanis
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Elena Prigmore
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Diana Rajan
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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AlejandroW Sifrim
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Stuart Aitken
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
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Nadia Akawi
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Mohsan Alvi
3Department of Engineering Science, University of Oxford, Parks Road, Oxford, OX1 3PJ, UK
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Kirsty Ambridge
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Daniel M Barrett
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Tanya Bayzetinova
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Philip Jones
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Wendy D Jones
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Daniel King
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Netravathi Krishnappa
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Laura E Mason
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Tarjinder Singh
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Adrian R Tivey
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Munaza Ahmed
4Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK and Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Odstock Road, Salisbury, Wiltshire, SP2 8BJ, UK and Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO17 1BJ, UK
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Uruj Anjum
5South West Thames Regional Genetics Centre, St George's Healthcare NHS Trust, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK
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Hayley Archer
6Institute Of Medical Genetics, University Hospital Of Wales, Heath Park, Cardiff, CF14 4XW, UK and Department of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, LL18 5UJ, UK
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Ruth Armstrong
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Jana Awada
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Meena Balasubramanian
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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Siddharth Banka
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Diana Baralle
4Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK and Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Odstock Road, Salisbury, Wiltshire, SP2 8BJ, UK and Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO17 1BJ, UK
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Angela Barnicoat
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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Paul Batstone
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
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David Baty
12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
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Chris Bennett
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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Jonathan Berg
12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
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Birgitta Bernhard
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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A Paul Bevan
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Maria Bitner-Glindzicz
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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Edward Blair
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Moira Blyth
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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David Bohanna
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Louise Bourdon
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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David Bourn
17Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
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Lisa Bradley
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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Angela Brady
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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Simon Brent
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Carole Brewer
19Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK
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Kate Brunstrom
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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David J Bunyan
4Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK and Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Odstock Road, Salisbury, Wiltshire, SP2 8BJ, UK and Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO17 1BJ, UK
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John Burn
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Natalie Canham
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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Bruce Castle
19Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK
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Kate Chandler
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Elena Chatzimichali
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Deirdre Cilliers
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Angus Clarke
6Institute Of Medical Genetics, University Hospital Of Wales, Heath Park, Cardiff, CF14 4XW, UK and Department of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, LL18 5UJ, UK
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Susan Clasper
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Jill Clayton-Smith
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Virginia Clowes
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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Andrea Coates
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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Trevor Cole
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Irina Colgiu
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Amanda Collins
4Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK and Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Odstock Road, Salisbury, Wiltshire, SP2 8BJ, UK and Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO17 1BJ, UK
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Morag N Collinson
4Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK and Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Odstock Road, Salisbury, Wiltshire, SP2 8BJ, UK and Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO17 1BJ, UK
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Fiona Connell
20South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK
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Nicola Cooper
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Helen Cox
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Lara Cresswell
21Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary (NHS Trust), Leicester, LE1 5WW, UK
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Gareth Cross
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
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Yanick Crow
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Mariella D'Alessandro
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
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Tabib Dabir
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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Rosemarie Davidson
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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Sally Davies
6Institute Of Medical Genetics, University Hospital Of Wales, Heath Park, Cardiff, CF14 4XW, UK and Department of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, LL18 5UJ, UK
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Dylan de Vries
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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John Dean
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
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Charu Deshpande
20South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK
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Gemma Devlin
19Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK
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Abhijit Dixit
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
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Angus Dobbie
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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Alan Donaldson
24Bristol Genetics Service (Avon, Somerset, Gloucs and West Wilts), University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, St Michael's Hill, Bristol, BS2 8DT, UK
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Dian Donnai
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Deirdre Donnelly
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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Carina Donnelly
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Angela Douglas
25Merseyside and Cheshire Genetics Service, Liverpool Women's NHS Foundation Trust, Department of Clinical Genetics, Royal Liverpool Children's Hospital Alder Hey, Eaton Road, Liverpool, L12 2AP, UK
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Sofia Douzgou
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Alexis Duncan
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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Jacqueline Eason
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
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Sian Ellard
19Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK
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Ian Ellis
25Merseyside and Cheshire Genetics Service, Liverpool Women's NHS Foundation Trust, Department of Clinical Genetics, Royal Liverpool Children's Hospital Alder Hey, Eaton Road, Liverpool, L12 2AP, UK
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Frances Elmslie
5South West Thames Regional Genetics Centre, St George's Healthcare NHS Trust, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK
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Karenza Evans
6Institute Of Medical Genetics, University Hospital Of Wales, Heath Park, Cardiff, CF14 4XW, UK and Department of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, LL18 5UJ, UK
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Sarah Everest
19Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK
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Tina Fendick
20South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK
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Richard Fisher
17Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
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Frances Flinter
20South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK
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Nicola Foulds
4Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK and Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Odstock Road, Salisbury, Wiltshire, SP2 8BJ, UK and Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO17 1BJ, UK
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AndrewW Fry
6Institute Of Medical Genetics, University Hospital Of Wales, Heath Park, Cardiff, CF14 4XW, UK and Department of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, LL18 5UJ, UK
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Alan Fryer
25Merseyside and Cheshire Genetics Service, Liverpool Women's NHS Foundation Trust, Department of Clinical Genetics, Royal Liverpool Children's Hospital Alder Hey, Eaton Road, Liverpool, L12 2AP, UK
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Carol Gardiner
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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Lorraine Gaunt
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Neeti Ghali
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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Richard Gibbons
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Harinder Gill
26National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland
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Judith Goodship
17Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
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David Goudie
12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
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Emma Gray
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Andrew Green
26National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland
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Philip Greene
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
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Lynn Greenhalgh
25Merseyside and Cheshire Genetics Service, Liverpool Women's NHS Foundation Trust, Department of Clinical Genetics, Royal Liverpool Children's Hospital Alder Hey, Eaton Road, Liverpool, L12 2AP, UK
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Susan Gribble
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Lucy Harrison
4Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK and Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Odstock Road, Salisbury, Wiltshire, SP2 8BJ, UK and Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO17 1BJ, UK
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Victoria Harrison
4Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK and Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Odstock Road, Salisbury, Wiltshire, SP2 8BJ, UK and Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO17 1BJ, UK
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Rose Hawkins
24Bristol Genetics Service (Avon, Somerset, Gloucs and West Wilts), University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, St Michael's Hill, Bristol, BS2 8DT, UK
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Liu He
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Stephen Hellens
17Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
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Alex Henderson
17Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
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Sarah Hewitt
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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Lucy Hildyard
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Emma Hobson
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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Simon Holden
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Muriel Holder
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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Susan Holder
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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Georgina Hollingsworth
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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Tessa Homfray
5South West Thames Regional Genetics Centre, St George's Healthcare NHS Trust, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK
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Mervyn Humphreys
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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Jane Hurst
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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Ben Hutton
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Stuart Ingram
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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Melita Irving
20South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK
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Lily Islam
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Andrew Jackson
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
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Joanna Jarvis
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Lucy Jenkins
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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Diana Johnson
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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Elizabeth Jones
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Dragana Josifova
20South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK
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Shelagh Joss
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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Beckie Kaemba
21Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary (NHS Trust), Leicester, LE1 5WW, UK
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Sandra Kazembe
21Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary (NHS Trust), Leicester, LE1 5WW, UK
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Rosemary Kelsell
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Bronwyn Kerr
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Helen Kingston
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Usha Kini
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Esther Kinning
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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Gail Kirby
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Claire Kirk
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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Emma Kivuva
19Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK
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Alison Kraus
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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Dhavendra Kumar
6Institute Of Medical Genetics, University Hospital Of Wales, Heath Park, Cardiff, CF14 4XW, UK and Department of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, LL18 5UJ, UK
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V.K Ajith Kumar
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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Katherine Lachlan
4Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK and Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Odstock Road, Salisbury, Wiltshire, SP2 8BJ, UK and Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO17 1BJ, UK
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Wayne Lam
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
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Anne Lampe
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
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Caroline Langman
20South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK
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Melissa Lees
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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Derek Lim
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Cheryl Longman
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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Gordon Lowther
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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Sally A Lynch
26National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland
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Alex Magee
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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Eddy Maher
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
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Alison Male
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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Sahar Mansour
5South West Thames Regional Genetics Centre, St George's Healthcare NHS Trust, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK
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Karen Marks
5South West Thames Regional Genetics Centre, St George's Healthcare NHS Trust, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK
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Katherine Martin
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
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Una Maye
25Merseyside and Cheshire Genetics Service, Liverpool Women's NHS Foundation Trust, Department of Clinical Genetics, Royal Liverpool Children's Hospital Alder Hey, Eaton Road, Liverpool, L12 2AP, UK
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Emma McCann
27Deptartment of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, Wales, LL18 5UJ, UK
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Vivienne McConnell
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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Meriel McEntagart
5South West Thames Regional Genetics Centre, St George's Healthcare NHS Trust, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK
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Ruth McGowan
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
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Kirsten McKay
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Shane McKee
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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Dominic J McMullan
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Susan McNerlan
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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Catherine McWilliam
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
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Sarju Mehta
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Kay Metcalfe
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Anna Middleton
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Zosia Miedzybrodzka
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
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Emma Miles
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Shehla Mohammed
20South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK
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Tara Montgomery
17Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
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David Moore
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
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Sian Morgan
6Institute Of Medical Genetics, University Hospital Of Wales, Heath Park, Cardiff, CF14 4XW, UK and Department of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, LL18 5UJ, UK
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Jenny Morton
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Hood Mugalaasi
6Institute Of Medical Genetics, University Hospital Of Wales, Heath Park, Cardiff, CF14 4XW, UK and Department of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, LL18 5UJ, UK
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Victoria Murday
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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Helen Murphy
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Swati Naik
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Andrea Nemeth
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Louise Nevitt
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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Ruth Newbury-Ecob
24Bristol Genetics Service (Avon, Somerset, Gloucs and West Wilts), University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, St Michael's Hill, Bristol, BS2 8DT, UK
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Andrew Norman
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Rosie O'Shea
26National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland
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Caroline Ogilvie
20South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK
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Kai-Ren Ong
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Soo-Mi Park
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Michael J Parker
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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Chirag Patel
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Joan Paterson
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Stewart Payne
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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Daniel Perrett
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Julie Phipps
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Daniela T Pilz
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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Martin Pollard
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Caroline Pottinger
27Deptartment of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, Wales, LL18 5UJ, UK
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Joanna Poulton
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Norman Pratt
12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
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Katrina Prescott
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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Sue Price
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Abigail Pridham
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Annie Procter
6Institute Of Medical Genetics, University Hospital Of Wales, Heath Park, Cardiff, CF14 4XW, UK and Department of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, LL18 5UJ, UK
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Hellen Purnell
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Oliver Quarrell
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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Nicola Ragge
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Raheleh Rahbari
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Josh Randall
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Julia Rankin
19Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK
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Lucy Raymond
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Debbie Rice
12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
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Leema Robert
20South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK
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Eileen Roberts
24Bristol Genetics Service (Avon, Somerset, Gloucs and West Wilts), University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, St Michael's Hill, Bristol, BS2 8DT, UK
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Jonathan Roberts
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Paul Roberts
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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Gillian Roberts
25Merseyside and Cheshire Genetics Service, Liverpool Women's NHS Foundation Trust, Department of Clinical Genetics, Royal Liverpool Children's Hospital Alder Hey, Eaton Road, Liverpool, L12 2AP, UK
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Alison Ross
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
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Elisabeth Rosser
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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Anand Saggar
5South West Thames Regional Genetics Centre, St George's Healthcare NHS Trust, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK
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Shalaka Samant
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
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Julian Sampson
6Institute Of Medical Genetics, University Hospital Of Wales, Heath Park, Cardiff, CF14 4XW, UK and Department of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, LL18 5UJ, UK
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Richard Sandford
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Ajoy Sarkar
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
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Susann Schweiger
12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
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Richard Scott
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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Ingrid Scurr
24Bristol Genetics Service (Avon, Somerset, Gloucs and West Wilts), University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, St Michael's Hill, Bristol, BS2 8DT, UK
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Ann Selby
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
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Anneke Seller
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Cheryl Sequeira
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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Nora Shannon
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
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Saba Sharif
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Charles Shaw-Smith
19Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK
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Emma Shearing
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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Debbie Shears
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Eamonn Sheridan
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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Ingrid Simonic
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Roldan Singzon
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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Zara Skitt
9Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK
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Audrey Smith
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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Kath Smith
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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Sarah Smithson
24Bristol Genetics Service (Avon, Somerset, Gloucs and West Wilts), University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, St Michael's Hill, Bristol, BS2 8DT, UK
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Linda Sneddon
17Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
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Miranda Splitt
17Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
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Miranda Squires
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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Fiona Stewart
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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Helen Stewart
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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Volker Straub
17Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
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Mohnish Suri
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
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Vivienne Sutton
25Merseyside and Cheshire Genetics Service, Liverpool Women's NHS Foundation Trust, Department of Clinical Genetics, Royal Liverpool Children's Hospital Alder Hey, Eaton Road, Liverpool, L12 2AP, UK
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Ganesh Jawahar Swaminathan
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Elizabeth Sweeney
25Merseyside and Cheshire Genetics Service, Liverpool Women's NHS Foundation Trust, Department of Clinical Genetics, Royal Liverpool Children's Hospital Alder Hey, Eaton Road, Liverpool, L12 2AP, UK
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Kate Tatton-Brown
5South West Thames Regional Genetics Centre, St George's Healthcare NHS Trust, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK
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Cat Taylor
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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Rohan Taylor
5South West Thames Regional Genetics Centre, St George's Healthcare NHS Trust, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK
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Mark Tein
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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I Karen Temple
4Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK and Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Odstock Road, Salisbury, Wiltshire, SP2 8BJ, UK and Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO17 1BJ, UK
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Jenny Thomson
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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Marc Tischkowitz
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Susan Tomkins
24Bristol Genetics Service (Avon, Somerset, Gloucs and West Wilts), University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, St Michael's Hill, Bristol, BS2 8DT, UK
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Audrey Torokwa
4Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK and Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Odstock Road, Salisbury, Wiltshire, SP2 8BJ, UK and Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO17 1BJ, UK
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Becky Treacy
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Claire Turner
19Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK
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Peter Turnpenny
19Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK
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Carolyn Tysoe
19Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK
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Anthony Vandersteen
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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Vinod Varghese
6Institute Of Medical Genetics, University Hospital Of Wales, Heath Park, Cardiff, CF14 4XW, UK and Department of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, LL18 5UJ, UK
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Pradeep Vasudevan
21Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary (NHS Trust), Leicester, LE1 5WW, UK
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Parthiban Vijayarangakannan
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Julie Vogt
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Emma Wakeling
14North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, The Kennedy Galton Centre, Northwick Park And St Mark's NHS Trust Watford Road, Harrow, HA1 3UJ, UK
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Sarah Wallwark
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Jonathon Waters
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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Astrid Weber
25Merseyside and Cheshire Genetics Service, Liverpool Women's NHS Foundation Trust, Department of Clinical Genetics, Royal Liverpool Children's Hospital Alder Hey, Eaton Road, Liverpool, L12 2AP, UK
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Diana Wellesley
4Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK and Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Odstock Road, Salisbury, Wiltshire, SP2 8BJ, UK and Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO17 1BJ, UK
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Margo Whiteford
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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Sara Widaa
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Sarah Wilcox
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Emily Wilkinson
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Denise Williams
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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Nicola Williams
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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Louise Wilson
10North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
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Geoff Woods
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Christopher Wragg
24Bristol Genetics Service (Avon, Somerset, Gloucs and West Wilts), University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, St Michael's Hill, Bristol, BS2 8DT, UK
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Michael Wright
17Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
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Laura Yates
17Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
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Michael Yau
20South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK
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Chris Nellaker
28Nuffield Department of Obstetrics & Gynaecology, University of Oxford, Level 3, Women's Centre, John Radcliffe Hospital, Oxford, OX3 9DU, UK
29Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK
30Big Data Institute, University of Oxford, Roosevelt drive, Oxford, OX3 7LF, UK
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Michael J Parker
31The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK
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Helen V Firth
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Caroline F Wright
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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David R FitzPatrick
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
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Jeffrey C Barrett
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Matthew E Hurles
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Abstract

Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,293 families with individuals with DDs, and meta-analysed these data with published data on 3,287 individuals with similar disorders. We show that the most significant factors influencing the diagnostic yield of de novo mutations are the sex of the affected individual, the relatedness of their parents and the age of both father and mother. We identified 94 genes enriched for damaging de novo mutation at genome-wide significance (P < 7 × 10−7), including 14 genes for which compelling data for causation was previously lacking. We have characterised the phenotypic diversity among these genetic disorders. We demonstrate that, at current cost differentials, exome sequencing has much greater power than genome sequencing for novel gene discovery in genetically heterogeneous disorders. We estimate that 42% of our cohort carry pathogenic DNMs (single nucleotide variants and indels) in coding sequences, with approximately half operating by a loss-of-function mechanism, and the remainder resulting in altered-function (e.g. activating, dominant negative). We established that most haplo insufficient developmental disorders have already been identified, but that many altered-function disorders remain to be discovered. Extrapolating from the DDD cohort to the general population, we estimate that developmental disorders caused by DNMs have an average birth prevalence of 1 in 213 to 1 in 448 (0.22-0.47% of live births), depending on parental age.

PTV
Protein-Truncating Variant
DNM
De Novo Mutation
DD
Developmental Disorder
DDD
Deciphering Developmental Disorders study

Footnotes

  • Sample and data processing: S. Clayton, T.W.F., E.P., D. Rajan, K.A., D.M.B., T.B., P.J., N.K., L.E.M., A.R.T., A.P.B., S. Brent, E.C., I.C., E.G., S.G., L. Hildyard, B.H., R.K., D.P., M.P., J. Randall, G.J.S., S. Widaa, E. Wilkinson

  • Validation experiments: J.F.M., E.P., D. Rajan, A. Sifrim, N.K., C.F.W.

  • Study design: M.J. Parker, H.V.F., C.F.W., D.R.F., J.C.B., M.E.H.

  • Method development and data analysis: J.F.M., S. Clayton, T.W.F., J.K., E.P., D. Rajan, A. Sifrim, S.A., N.A., M. Alvi, P.J., W.D.J., D. King, T.S., J.A., D.d.V., L. He, R.R., G.J.S., P. Vijayarangakannan, C.N., H.V.F., C.F.W., D.R.F., J.C.B., M.E.H.

  • Data interpretation: J.F.M., H.V.F., C.F.W., D.R.F., J.C.B., M.E.H. Writing: J.F.M., C.F.W., D.R.F., M.E.H.

  • Experimental and analytical supervision: M.J. Parker, H.V.F., C.F.W., D.R.F., J.C.B., M.E.H.

  • Project Supervision: M.E.H.

  • ↵32 These authors jointly supervised this work Patient recruitment and phenotyping: M. Ahmed, U.A., H.A., R.A., M. Balasubramanian, S. Banka, D. Baralle, A. Barnicoat, P.B., D. Baty, C. Bennett, J. Berg, B.B., M.B-G., E.B., M. Blyth, D. Bohanna, L. Bourdon, D. Bourn, L. Bradley, A. Brady, C. Brewer, K.B., D.J.B., J. Burn, N. Canham, B.C., K.C., D.C., A. Clarke, S. Clasper, J.C-S., V.C., A. Coates, T.C., A. Collins, M.N.C., F.C., N. Cooper, H.C., L.C., G.C., Y.C., M.D., T.D., R.D., S. Davies, J.D., C. Deshpande, G.D., A. Dixit, A. Dobbie, A. Donaldson, D. Donnai, D. Donnelly, C. Donnelly, A. Douglas, S. Douzgou, A. Duncan, J.E., S. Ellard, I.E., F.E., K.E., S. Everest, T.F., R.F., F.F., N.F., A. Fry, A. Fryer, C.G., L. Gaunt, N.G., R.G., H.G., J.G., D.G., A.G., P.G., L. Greenhalgh, R. Harrison, L. Harrison, V.H., R. Hawkins, S. Hellens, A.H., S. Hewitt, E.H., S. Holden, M. Holder, S. Holder, G.H., T.H., M. Humphreys, J.H., S.I., M.I., L.I., A.J., J.J., L.J., D. Johnson, E. J., D. Josifova, S.J., B. Kaemba, S.K., B. Kerr, H.K., U.K., E. Kinning, G.K., C.K., E. Kivuva, A.K., D. Kumar, V.A.K., K.L., W.L., A.L., C. Langman, M.L., D.L., C. Longman, G.L., S.A.L., A. Magee, E. Maher, A. Male, S. Mansour, K. Marks, K. Martin, U.M., E. McCann, V. McConnell, M.M., R.M., K. McKay, S. McKee, D.J.M., S. McNerlan, C.M., S. Mehta, K. Metcalfe, Z.M., E. Miles, S. Mohammed, T.M., D.M., S. Morgan, J.M., H. Mugalaasi, V. Murday, H. Murphy, S.N., A. Nemeth, L.N., R.N-E., A. Norman, R.O., C.O., K-R.O., S-M.P., M.J. Parker, C. Patel, J. Paterson, S. Payne, J. Phipps, D.T.P., C. Pottinger, J. Poulton, N.P., K.P., S. Price, A. Pridham, A. Procter, H.P., O.Q., N.R., J. Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, J. Roberts, P.R., G.R., A.R., E. Rosser, A. Saggar, S. Samant, J.S., R. Sandford, A. Sarkar, S. Schweiger, R. Scott, I. Scurr, A. Selby, A. Seller, C.S., N.S., S. Sharif, C. S-S., E. Shearing, D.S., E. Sheridan, I. Simonic, R. Singzon, Z.S., A. Smith, K.S., S. Smithson, L.S., M. Splitt, M. Squires, F.S., H.S., V. Straub, M. Suri, V. Sutton, E. Sweeney, K.T-B., C. Taylor, R.T., M. Tein, I.K.T., J.T., M. Tischkowitz, S.T., A.T., B.T., C. Turner, P.T., C. Tysoe, A.V., V.V., P. Vasudevan, J.V., E. Wakeling, S. Wallwark, J.W., A.W., D. Wellesley, M. Whiteford, S. Wilcox, D. Williams, N.W., L.W., G.W., C.W., M. Wright, L.Y., M.Y., H.V.F., D. R.F.

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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
Jeremy F McRae, Stephen Clayton, Tomas W Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, AlejandroW Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M Barrett, Tanya Bayzetinova, Philip Jones, Wendy D Jones, Daniel King, Netravathi Krishnappa, Laura E Mason, Tarjinder Singh, Adrian R Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton-Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D'Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, AndrewW Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V.K Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Jenny Morton, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O'Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellaker, Michael J Parker, Helen V Firth, Caroline F Wright, David R FitzPatrick, Jeffrey C Barrett, Matthew E Hurles
bioRxiv 049056; doi: https://doi.org/10.1101/049056
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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
Jeremy F McRae, Stephen Clayton, Tomas W Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, AlejandroW Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M Barrett, Tanya Bayzetinova, Philip Jones, Wendy D Jones, Daniel King, Netravathi Krishnappa, Laura E Mason, Tarjinder Singh, Adrian R Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton-Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D'Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, AndrewW Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V.K Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Jenny Morton, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O'Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellaker, Michael J Parker, Helen V Firth, Caroline F Wright, David R FitzPatrick, Jeffrey C Barrett, Matthew E Hurles
bioRxiv 049056; doi: https://doi.org/10.1101/049056

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