New Results
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
Stephen Clayton
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Tomas W Fitzgerald
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Joanna Kaplanis
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Elena Prigmore
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Diana Rajan
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
AlejandroW Sifrim
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Stuart Aitken
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
Nadia Akawi
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Mohsan Alvi
3Department of Engineering Science, University of Oxford, Parks Road, Oxford, OX1 3PJ, UK
Kirsty Ambridge
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Daniel M Barrett
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Tanya Bayzetinova
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Philip Jones
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Wendy D Jones
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Daniel King
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Netravathi Krishnappa
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Laura E Mason
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Tarjinder Singh
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Adrian R Tivey
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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
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
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
Ruth Armstrong
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
Jana Awada
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Meena Balasubramanian
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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
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
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
Paul Batstone
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
David Baty
12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
Chris Bennett
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
Jonathan Berg
12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
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
A Paul Bevan
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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
Edward Blair
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
Moira Blyth
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
David Bohanna
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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
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
Lisa Bradley
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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
Simon Brent
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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
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
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
John Burn
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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
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
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
Elena Chatzimichali
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Deirdre Cilliers
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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
Susan Clasper
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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
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
Andrea Coates
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
Trevor Cole
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Irina Colgiu
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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
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
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
Nicola Cooper
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Helen Cox
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Lara Cresswell
21Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary (NHS Trust), Leicester, LE1 5WW, UK
Gareth Cross
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
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
Mariella D'Alessandro
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
Tabib Dabir
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
Rosemarie Davidson
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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
Dylan de Vries
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
John Dean
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
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
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
Abhijit Dixit
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
Angus Dobbie
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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
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
Deirdre Donnelly
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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
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
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
Alexis Duncan
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
Jacqueline Eason
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
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
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
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
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
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
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
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
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
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
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
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
Carol Gardiner
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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
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
Richard Gibbons
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
Harinder Gill
26National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland
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
David Goudie
12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
Emma Gray
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Andrew Green
26National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland
Philip Greene
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
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
Susan Gribble
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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
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
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
Liu He
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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
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
Sarah Hewitt
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
Lucy Hildyard
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Emma Hobson
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
Simon Holden
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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
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
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
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
Mervyn Humphreys
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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
Ben Hutton
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Stuart Ingram
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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
Lily Islam
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Andrew Jackson
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
Joanna Jarvis
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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
Diana Johnson
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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
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
Shelagh Joss
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
Beckie Kaemba
21Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary (NHS Trust), Leicester, LE1 5WW, UK
Sandra Kazembe
21Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary (NHS Trust), Leicester, LE1 5WW, UK
Rosemary Kelsell
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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
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
Usha Kini
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
Esther Kinning
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
Gail Kirby
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Claire Kirk
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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
Alison Kraus
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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
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
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
Wayne Lam
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
Anne Lampe
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
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
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
Derek Lim
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Cheryl Longman
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
Gordon Lowther
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
Sally A Lynch
26National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland
Alex Magee
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
Eddy Maher
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
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
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
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
Katherine Martin
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
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
Emma McCann
27Deptartment of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, Wales, LL18 5UJ, UK
Vivienne McConnell
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
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
Ruth McGowan
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
Kirsten McKay
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Shane McKee
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
Dominic J McMullan
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Susan McNerlan
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
Catherine McWilliam
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
Sarju Mehta
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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
Anna Middleton
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Zosia Miedzybrodzka
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
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
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
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
David Moore
2MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
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
Jenny Morton
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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
Victoria Murday
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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
Swati Naik
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Andrea Nemeth
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
Louise Nevitt
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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
Andrew Norman
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Rosie O'Shea
26National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland
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
Kai-Ren Ong
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Soo-Mi Park
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
Michael J Parker
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
Chirag Patel
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Joan Paterson
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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
Daniel Perrett
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Julie Phipps
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
Daniela T Pilz
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
Martin Pollard
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Caroline Pottinger
27Deptartment of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, Wales, LL18 5UJ, UK
Joanna Poulton
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
Norman Pratt
12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
Katrina Prescott
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
Sue Price
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
Abigail Pridham
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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
Hellen Purnell
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
Oliver Quarrell
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
Nicola Ragge
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Raheleh Rahbari
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Josh Randall
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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
Lucy Raymond
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
Debbie Rice
12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
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
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
Jonathan Roberts
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
Paul Roberts
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
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
Alison Ross
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
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
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
Shalaka Samant
11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
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
Richard Sandford
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
Ajoy Sarkar
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
Susann Schweiger
12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
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
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
Ann Selby
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
Anneke Seller
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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
Nora Shannon
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
Saba Sharif
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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
Emma Shearing
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
Debbie Shears
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
Eamonn Sheridan
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
Ingrid Simonic
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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
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
Audrey Smith
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
Kath Smith
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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
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
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
Miranda Squires
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
Fiona Stewart
18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
Helen Stewart
15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
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
Mohnish Suri
22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
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
Ganesh Jawahar Swaminathan
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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
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
Cat Taylor
8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
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
Mark Tein
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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
Jenny Thomson
13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
Marc Tischkowitz
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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
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
Becky Treacy
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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
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
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
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
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
Pradeep Vasudevan
21Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary (NHS Trust), Leicester, LE1 5WW, UK
Parthiban Vijayarangakannan
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Julie Vogt
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
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
Sarah Wallwark
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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
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
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
Margo Whiteford
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
Sara Widaa
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Sarah Wilcox
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
Emily Wilkinson
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Denise Williams
16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
Nicola Williams
23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
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
Geoff Woods
7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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
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
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
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
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
Michael J Parker
31The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK
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
Caroline F Wright
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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
Jeffrey C Barrett
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Matthew E Hurles
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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- Jeremy F McRae1,
- Stephen Clayton1,
- Tomas W Fitzgerald1,
- Joanna Kaplanis1,
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- AlejandroW Sifrim1,
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- Nadia Akawi1,
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- Wendy D Jones1,
- Daniel King1,
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- Nicola Cooper16,
- Helen Cox16,
- Lara Cresswell21,
- Gareth Cross22,
- Yanick Crow9,
- Mariella D'Alessandro11,
- Tabib Dabir18,
- Rosemarie Davidson23,
- Sally Davies6,
- Dylan de Vries1,
- John Dean11,
- Charu Deshpande20,
- Gemma Devlin19,
- Abhijit Dixit22,
- Angus Dobbie13,
- Alan Donaldson24,
- Dian Donnai9,
- Deirdre Donnelly18,
- Carina Donnelly9,
- Angela Douglas25,
- Sofia Douzgou9,
- Alexis Duncan23,
- Jacqueline Eason22,
- Sian Ellard19,
- Ian Ellis25,
- Frances Elmslie5,
- Karenza Evans6,
- Sarah Everest19,
- Tina Fendick20,
- Richard Fisher17,
- Frances Flinter20,
- Nicola Foulds4,
- AndrewW Fry6,
- Alan Fryer25,
- Carol Gardiner23,
- Lorraine Gaunt9,
- Neeti Ghali14,
- Richard Gibbons15,
- Harinder Gill26,
- Judith Goodship17,
- David Goudie12,
- Emma Gray1,
- Andrew Green26,
- Philip Greene2,
- Lynn Greenhalgh25,
- Susan Gribble1,
- Lucy Harrison4,
- Victoria Harrison4,
- Rose Hawkins24,
- Liu He1,
- Stephen Hellens17,
- Alex Henderson17,
- Sarah Hewitt13,
- Lucy Hildyard1,
- Emma Hobson13,
- Simon Holden7,
- Muriel Holder14,
- Susan Holder14,
- Georgina Hollingsworth10,
- Tessa Homfray5,
- Mervyn Humphreys18,
- Jane Hurst10,
- Ben Hutton1,
- Stuart Ingram8,
- Melita Irving20,
- Lily Islam16,
- Andrew Jackson2,
- Joanna Jarvis16,
- Lucy Jenkins10,
- Diana Johnson8,
- Elizabeth Jones9,
- Dragana Josifova20,
- Shelagh Joss23,
- Beckie Kaemba21,
- Sandra Kazembe21,
- Rosemary Kelsell1,
- Bronwyn Kerr9,
- Helen Kingston9,
- Usha Kini15,
- Esther Kinning23,
- Gail Kirby16,
- Claire Kirk18,
- Emma Kivuva19,
- Alison Kraus13,
- Dhavendra Kumar6,
- V.K Ajith Kumar10,
- Katherine Lachlan4,
- Wayne Lam2,
- Anne Lampe2,
- Caroline Langman20,
- Melissa Lees10,
- Derek Lim16,
- Cheryl Longman23,
- Gordon Lowther23,
- Sally A Lynch26,
- Alex Magee18,
- Eddy Maher2,
- Alison Male10,
- Sahar Mansour5,
- Karen Marks5,
- Katherine Martin22,
- Una Maye25,
- Emma McCann27,
- Vivienne McConnell18,
- Meriel McEntagart5,
- Ruth McGowan11,
- Kirsten McKay16,
- Shane McKee18,
- Dominic J McMullan16,
- Susan McNerlan18,
- Catherine McWilliam11,
- Sarju Mehta7,
- Kay Metcalfe9,
- Anna Middleton1,
- Zosia Miedzybrodzka11,
- Emma Miles9,
- Shehla Mohammed20,
- Tara Montgomery17,
- David Moore2,
- Sian Morgan6,
- Jenny Morton16,
- Hood Mugalaasi6,
- Victoria Murday23,
- Helen Murphy9,
- Swati Naik16,
- Andrea Nemeth15,
- Louise Nevitt8,
- Ruth Newbury-Ecob24,
- Andrew Norman16,
- Rosie O'Shea26,
- Caroline Ogilvie20,
- Kai-Ren Ong16,
- Soo-Mi Park7,
- Michael J Parker8,
- Chirag Patel16,
- Joan Paterson7,
- Stewart Payne14,
- Daniel Perrett1,
- Julie Phipps15,
- Daniela T Pilz23,
- Martin Pollard1,
- Caroline Pottinger27,
- Joanna Poulton15,
- Norman Pratt12,
- Katrina Prescott13,
- Sue Price15,
- Abigail Pridham15,
- Annie Procter6,
- Hellen Purnell15,
- Oliver Quarrell8,
- Nicola Ragge16,
- Raheleh Rahbari1,
- Josh Randall1,
- Julia Rankin19,
- Lucy Raymond7,
- Debbie Rice12,
- Leema Robert20,
- Eileen Roberts24,
- Jonathan Roberts7,
- Paul Roberts13,
- Gillian Roberts25,
- Alison Ross11,
- Elisabeth Rosser10,
- Anand Saggar5,
- Shalaka Samant11,
- Julian Sampson6,
- Richard Sandford7,
- Ajoy Sarkar22,
- Susann Schweiger12,
- Richard Scott10,
- Ingrid Scurr24,
- Ann Selby22,
- Anneke Seller15,
- Cheryl Sequeira14,
- Nora Shannon22,
- Saba Sharif16,
- Charles Shaw-Smith19,
- Emma Shearing8,
- Debbie Shears15,
- Eamonn Sheridan13,
- Ingrid Simonic7,
- Roldan Singzon14,
- Zara Skitt9,
- Audrey Smith13,
- Kath Smith8,
- Sarah Smithson24,
- Linda Sneddon17,
- Miranda Splitt17,
- Miranda Squires13,
- Fiona Stewart18,
- Helen Stewart15,
- Volker Straub17,
- Mohnish Suri22,
- Vivienne Sutton25,
- Ganesh Jawahar Swaminathan1,
- Elizabeth Sweeney25,
- Kate Tatton-Brown5,
- Cat Taylor8,
- Rohan Taylor5,
- Mark Tein16,
- I Karen Temple4,
- Jenny Thomson13,
- Marc Tischkowitz7,
- Susan Tomkins24,
- Audrey Torokwa4,
- Becky Treacy7,
- Claire Turner19,
- Peter Turnpenny19,
- Carolyn Tysoe19,
- Anthony Vandersteen14,
- Vinod Varghese6,
- Pradeep Vasudevan21,
- Parthiban Vijayarangakannan1,
- Julie Vogt16,
- Emma Wakeling14,
- Sarah Wallwark7,
- Jonathon Waters10,
- Astrid Weber25,
- Diana Wellesley4,
- Margo Whiteford23,
- Sara Widaa1,
- Sarah Wilcox7,
- Emily Wilkinson1,
- Denise Williams16,
- Nicola Williams23,
- Louise Wilson10,
- Geoff Woods7,
- Christopher Wragg24,
- Michael Wright17,
- Laura Yates17,
- Michael Yau20,
- Chris Nellaker28,29,30,
- Michael J Parker31,
- Helen V Firth1,732,
- Caroline F Wright132,
- David R FitzPatrick1,232,
- Jeffrey C Barrett132 and
- Matthew E Hurles132
- 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
- 3Department of Engineering Science, University of Oxford, Parks Road, Oxford, OX1 3PJ, UK
- 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
- 5South West Thames Regional Genetics Centre, St George's Healthcare NHS Trust, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK
- 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
- 7East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
- 8Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK
- 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
- 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
- 11North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK
- 12East of Scotland Regional Genetics Service, Human Genetics Unit, Pathology Department, NHS Tayside, Ninewells Hospital, Dundee, DD1 9SY, UK
- 13Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, LS7 4SA, UK
- 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
- 15Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford, OX3 7LJ, UK
- 16West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK
- 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
- 18Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
- 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
- 20South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK
- 21Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary (NHS Trust), Leicester, LE1 5WW, UK
- 22Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK
- 23West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute Of Medical Genetics, Yorkhill Hospital, Glasgow, G3 8SJ, UK
- 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
- 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
- 26National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland
- 27Deptartment of Clinical Genetics, Block 12, Glan Clwyd Hospital, Rhyl, Denbighshire, Wales, LL18 5UJ, UK
- 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
- 31The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK
Posted June 16, 2016.
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
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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