Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Joanna Kaplanis, Kaitlin E. Samocha, Ruth Y. Eberhardt, Giuseppe Gallone, Hilary C. Martin, Jeremy F. McRae, Patrick J. Short, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Helen V. Firth, Jeffrey C. Barrett & Matthew E. Hurles
Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
Laurens Wiel, Stefan H. Lelieveld, Margot R. F. Reijnders & Christian Gilissen
Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
Laurens Wiel
GeneDx, Gaithersburg, MD, USA
Zhancheng Zhang, Kevin J. Arvai, Rebecca I. Torene, Jane Juusola & Kyle Retterer
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
Elke de Boer, Rolph Pfundt, Helger G. Yntema, Lisenka E. L. M. Vissers & Han G. Brunner
Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK
Jenny Lord
Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands
Margot R. F. Reijnders & Han G. Brunner
Victorian Clinical Genetics Services, Melbourne, Victoria, Australia
Alison Yeung
Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
Alison Yeung
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon & Exeter Hospital, Exeter, UK
Caroline F. Wright
GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands
Han G. Brunner
MHENS School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands
Han G. Brunner
East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
Steve Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo-Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods & Helen V. Firth
MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK
Tara Azam, Elaine Cleary, Andrew Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous & David R. FitzPatrick
North of Scotland Medical Genetics Service, NHS Grampian, Aberdeen, UK
Silvia Borras, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross & Stephen Tennant
Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, UK
Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea & Fiona Stewart
West Midlands Regional Genetics Service, Birmingham Women’s NHS Foundation Trust, Birmingham Women’s Hospital, Birmingham, UK
Trevor Cole, Nicola Cooper, Lisa Cooper-Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai-Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt & Denise Williams
Bristol Genetics Service, University Hospitals Bristol NHS Foundation Trust, St Michael’s Hospital, Bristol, UK
Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury-Ecob, Andrew M. Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson & Madeleine Tooley
National Centre for Medical Genetics, Our Lady’s Children’s Hospital, Dublin, Ireland
Lisa Bradley, Joanne Comerford, Andrew Green, Sally Lynch, Shirley McQuaid & Brendan Mullaney
East of Scotland Regional Genetics Service, NHS Tayside, Ninewells Hospital, Dundee, UK
Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam & Eleanor Reavey
Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK
Emma Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw-Smith, Claire Turner, Peter Turnpenny & Carolyn Tysoe
West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Yorkhill Hospital, Glasgow, UK
Therese Bradley, Rosemarie Davidson, Carol Gardiner, Shelagh Joss, Esther Kinning, Cheryl Longman, Ruth McGowan, Victoria Murday, Daniela Pilz, Edward Tobias, Margo Whiteford & Nicola Williams
North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London, UK
Angela Barnicoat, Emma Clement, Francesca Faravelli, Jane Hurst, Lucy Jenkins, Wendy Jones, V. K. Ajith Kumar, Melissa Lees, Sam Loughlin, Alison Male, Deborah Morrogh, Elisabeth Rosser, Richard Scott & Louise Wilson
South East Thames Regional Genetics Centre, Guy’s and St Thomas’ NHS Foundation Trust, Guy’s Hospital, London, UK
Ana Beleza, Charu Deshpande, Frances Flinter, Muriel Holder, Melita Irving, Louise Izatt, Dragana Josifova, Shehla Mohammed, Aneta Molenda, Leema Robert, Wendy Roworth, Deborah Ruddy, Mina Ryten & Shu Yau
Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK
Christopher Bennett, Moira Blyth, Jennifer Campbell, Andrea Coates, Angus Dobbie, Sarah Hewitt, Emma Hobson, Eilidh Jackson, Rosalyn Jewell, Alison Kraus, Katrina Prescott, Eamonn Sheridan & Jenny Thomson
Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK
Kirsty Bradshaw, Abhijit Dixit, Jacqueline Eason, Rebecca Haines, Rachel Harrison, Stacey Mutch, Ajoy Sarkar, Claire Searle, Nora Shannon, Abid Sharif & Mohnish Suri
Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK
Pradeep Vasudevan
Merseyside and Cheshire Genetics Service, Liverpool Women’s NHS Foundation Trust, Royal Liverpool Children’s Hospital Alder Hey, Liverpool, UK
Natalie Canham, Ian Ellis, Lynn Greenhalgh, Emma Howard, Victoria Stinton, Andrew Swale & Astrid Weber
Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, St Mary’s Hospital, Manchester, UK
Siddharth Banka, Catherine Breen, Tracy Briggs, Emma Burkitt-Wright, Kate Chandler, Jill Clayton-Smith, Dian Donnai, Sofia Douzgou, Lorraine Gaunt, Elizabeth Jones, Bronwyn Kerr, Claire Langley, Kay Metcalfe, Audrey Smith & Ronnie Wright
Northern Genetics Service, Institute of Human Genetics, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
David Bourn, John Burn, Richard Fisher, Steve Hellens, Alex Henderson, Tara Montgomery, Miranda Splitt, Volker Straub, Michael Wright & Simon Zwolinski
North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, St Mark’s Hospital, Harrow, UK
Zoe Allen, Birgitta Bernhard, Angela Brady, Claire Brooks, Louise Busby, Virginia Clowes, Neeti Ghali, Susan Holder, Rita Ibitoye & Emma Wakeling
Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, Oxford, UK
Edward Blair, Jenny Carmichael, Deirdre Cilliers, Susan Clasper, Richard Gibbons, Usha Kini, Tracy Lester, Andrea Nemeth, Joanna Poulton, Sue Price, Debbie Shears, Helen Stewart & Andrew Wilkie
Sheffield Regional Genetics Services, Sheffield Children’s NHS Trust, Sheffield, UK
Shadi Albaba, Duncan Baker, Meena Balasubramanian, Diana Johnson, Michael Parker, Oliver Quarrell, Alison Stewart & Josh Willoughby
South West Thames Regional Genetics Centre, St George’s Healthcare NHS Trust, St George’s, University of London, London, UK
Charlene Crosby, Frances Elmslie, Tessa Homfray, Huilin Jin, Nayana Lahiri, Sahar Mansour, Karen Marks, Meriel McEntagart, Anand Saggar & Kate Tatton-Brown
Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK
Rachel Butler, Angus Clarke, Sian Corrin, Andrew Fry, Arveen Kamath, Hood Mugalaasi, Annie Procter, Julian Sampson, Francis Sansbury & Vinod Varghese
Department of Clinical Genetics, Glan Clwyd Hospital, Rhyl, UK
Rachel Butler, Angus Clarke, Sian Corrin, Andrew Fry, Arveen Kamath, Emma McCann, Hood Mugalaasi, Caroline Pottinger, Annie Procter, Julian Sampson, Francis Sansbury & Vinod Varghese
Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, UK
Diana Baralle, Alison Callaway, Emma J. Cassidy, Stacey Daniels, Andrew Douglas, Nicola Foulds, David Hunt, Mira Kharbanda, Katherine Lachlan, Catherine Mercer, Lucy Side, I. Karen Temple & Diana Wellesley
Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK
Diana Baralle, Alison Callaway, Emma J. Cassidy, Stacey Daniels, Andrew Douglas, Nicola Foulds, David Hunt, Mira Kharbanda, Katherine Lachlan, Catherine Mercer, Lucy Side, I. Karen Temple & Diana Wellesley
Faculty of Medicine, University of Southampton, Southampton, UK
Diana Baralle, Alison Callaway, Emma J. Cassidy, Stacey Daniels, Andrew Douglas, Nicola Foulds, David Hunt, Mira Kharbanda, Katherine Lachlan, Catherine Mercer, Lucy Side, I. Karen Temple & Diana Wellesley
J.K., K.E.S., L.W., K.J.A., M.E.H., C.G. and K.R. contributed to the generation of figures and writing of the manuscript. J.K., K.E.S., L.W., Z.Z., K.J.A., R.Y.E., G.G., S.H.L., H.C.M., J.F.M., E.d.B., R.P., M.R.F.R. and H.G.Y. contributed to the generation and quality control of data. J.K., K.E.S., L.W., Z.Z., K.J.A., R.I.T., J.F.M., P.J.S., P.D., E.J.G., N.H., J.L., I.M., A.Y. and K.R. developed methods, contributed data or performed analyses. H.C.M., L.E.L.M.V., J.J., C.F.W., H.G.B., H.V.F., D.R.F., J.C.B., M.E.H., C.G. and K.R. provided experimental and analytical supervision. M.E.H., C.G. and K.R. provided project supervision.
