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Evidence for 28 genetic disorders discovered by combining healthcare and research data
2020
647 citations
Journal Article
bronze Open Access
Field-Weighted Citation Impact:
65.51
Evidence for 28 genetic disorders discovered by combining healthcare and research data | Researchclopedia
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Radboud University Nijmegen
Hilary C. Martin
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Wellcome Sanger Institute
Jeremy F. McRae
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Wellcome Sanger Institute
Patrick Short
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Wellcome Sanger Institute
Rebecca I. Torene
Elke de Boer
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Radboud University Nijmegen
Petr Danecek
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Wellcome Sanger Institute
Eugene J. Gardner
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Wellcome Sanger Institute
Ni Huang
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Wellcome Sanger Institute
Jenny Lord
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Wellcome Sanger Institute
Iñigo Martincorena
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Wellcome Sanger Institute
Rolph Pfundt
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Radboud University Nijmegen
Margot R.F. Reijnders
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Radboud University Nijmegen
Alison Yeung
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Victorian Clinical Genetics Services
Helger G. Yntema
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Radboud University Nijmegen
Deciphering Developmental Disorders Study
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NHS Grampian
Sílvia Borràs
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NHS Grampian
Caroline Clark
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NHS Grampian
John Dean
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NHS Grampian
Zosia Miedzybrodzka
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NHS Grampian
Alison Ross
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NHS Grampian
Stephen Tennant
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Belfast Health and Social Care Trust
Tabib Dabir
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Belfast Health and Social Care Trust
Deirdre Donnelly
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Belfast Health and Social Care Trust
Mervyn Humphreys
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Belfast Health and Social Care Trust
Alex Magee
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Belfast Health and Social Care Trust
Vivienne McConnell
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Belfast Health and Social Care Trust
Shane McKee
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Belfast Health and Social Care Trust
Susan McNerlan
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Belfast Health and Social Care Trust
Patrick J. Morrison
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Belfast Health and Social Care Trust
Gillian Rea
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Belfast Health and Social Care Trust
Fiona Stewart
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Birmingham Women's Hospital
Trevor Cole
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Birmingham Women's Hospital
Nicola Cooper
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Birmingham Women's Hospital
Lisa Cooper‐Charles
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Birmingham Women's Hospital
Helen Cox
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Birmingham Women's Hospital
Lily Islam
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Birmingham Women's Hospital
Joanna Jarvis
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Birmingham Women's Hospital
Rebecca Keelagher
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Birmingham Women's Hospital
Derek Lim
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Birmingham Women's Hospital
Dominic McMullan
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Birmingham Women's Hospital
Jenny Morton
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Birmingham Women's Hospital
Swati Naik
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Birmingham Women's Hospital
Mary O’Driscoll
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Birmingham Women's Hospital
Kai‐Ren Ong
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Birmingham Women's Hospital
Deborah Osio
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Birmingham Women's Hospital
Nicola Ragge
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Birmingham Women's Hospital
Sarah Turton
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Birmingham Women's Hospital
Julie Vogt
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Birmingham Women's Hospital
Denise Williams
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University Hospitals Bristol NHS Foundation Trust
Simon Bodek
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University Hospitals Bristol NHS Foundation Trust
Alan Donaldson
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University Hospitals Bristol NHS Foundation Trust
Alison Hills
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University Hospitals Bristol NHS Foundation Trust
Karen Low
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University Hospitals Bristol NHS Foundation Trust
Ruth Newbury‐Ecob
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University Hospitals Bristol NHS Foundation Trust
Andrew Norman
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University Hospitals Bristol NHS Foundation Trust
Eileen Roberts
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University Hospitals Bristol NHS Foundation Trust
Ingrid Scurr
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University Hospitals Bristol NHS Foundation Trust
Sarah Smithson
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University Hospitals Bristol NHS Foundation Trust
Madeleine Tooley
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Cambridge University Hospitals NHS Foundation Trust
Stephen Abbs
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Cambridge University Hospitals NHS Foundation Trust
Ruth Armstrong
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Cambridge University Hospitals NHS Foundation Trust
Carolyn Dunn
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Cambridge University Hospitals NHS Foundation Trust
Simon Holden
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Cambridge University Hospitals NHS Foundation Trust
Soo‐Mi Park
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Cambridge University Hospitals NHS Foundation Trust
Joan Paterson
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Cambridge University Hospitals NHS Foundation Trust
Lucy Raymond
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Cambridge University Hospitals NHS Foundation Trust
Evan Reid
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Cambridge University Hospitals NHS Foundation Trust
Richard Sandford
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Cambridge University Hospitals NHS Foundation Trust
Ingrid Simonic
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Cambridge University Hospitals NHS Foundation Trust
Marc Tischkowitz
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Cambridge University Hospitals NHS Foundation Trust
Geoff Woods
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Our Lady's Hospital
Lisa Bradley
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Our Lady's Hospital
Joanne Comerford
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Our Lady's Hospital
Andrew Green
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Our Lady's Hospital
Sally Ann Lynch
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Our Lady's Hospital
Shirley McQuaid
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Our Lady's Hospital
Brendan Mullaney
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NHS Tayside
Jonathan Berg
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NHS Tayside
David Goudie
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NHS Tayside
Eleni Mavrak
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NHS Tayside
Joanne McLean
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NHS Tayside
Catherine McWilliam
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NHS Tayside
Eleanor Reavey
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Western General Hospital
Tara Azam
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Western General Hospital
Elaine Cleary
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Western General Hospital
Andrew P. Jackson
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Western General Hospital
Wayne Lam
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Western General Hospital
Anne Lampe
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Western General Hospital
David Moore
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Western General Hospital
Mary Porteous
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Royal Devon & Exeter NHS Foundation Trust
Emma L. Baple
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Royal Devon & Exeter NHS Foundation Trust
Júlia Baptista
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Royal Devon & Exeter NHS Foundation Trust
Carole Brewer
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Royal Devon & Exeter NHS Foundation Trust
Bruce Castle
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Royal Devon & Exeter NHS Foundation Trust
Emma Kivuva
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Royal Devon & Exeter NHS Foundation Trust
Martina Owens
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Royal Devon & Exeter NHS Foundation Trust
Julia Rankin
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Royal Devon & Exeter NHS Foundation Trust
Charles Shaw‐Smith
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Royal Devon & Exeter NHS Foundation Trust
Claire Turner
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Royal Devon & Exeter NHS Foundation Trust
Peter D. Turnpenny
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Royal Devon & Exeter NHS Foundation Trust
Carolyn Tysoe
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NHS Greater Glasgow and Clyde
Therese Bradley
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NHS Greater Glasgow and Clyde
Rosemarie Davidson
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NHS Greater Glasgow and Clyde
Carol Gardiner
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NHS Greater Glasgow and Clyde
Shelagh Joss
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NHS Greater Glasgow and Clyde
Esther Kinning
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NHS Greater Glasgow and Clyde
Cheryl Longman
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NHS Greater Glasgow and Clyde
Ruth McGowan
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NHS Greater Glasgow and Clyde
Victoria Murday
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NHS Greater Glasgow and Clyde
Daniela T. Pilz
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NHS Greater Glasgow and Clyde
Edward S. Tobias
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NHS Greater Glasgow and Clyde
Margo Whiteford
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NHS Greater Glasgow and Clyde
Nicola Williams
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Great Ormond Street Hospital for Children NHS Foundation Trust
Angela Barnicoat
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Great Ormond Street Hospital for Children NHS Foundation Trust
Emma Clement
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Great Ormond Street Hospital for Children NHS Foundation Trust
Francesca Faravelli
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Great Ormond Street Hospital for Children NHS Foundation Trust
Jane A. Hurst
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Great Ormond Street Hospital for Children NHS Foundation Trust
Lucy Jenkins
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Great Ormond Street Hospital for Children NHS Foundation Trust
Wendy D. Jones
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Great Ormond Street Hospital for Children NHS Foundation Trust
Vipul Kumar
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Great Ormond Street Hospital for Children NHS Foundation Trust
Melissa Lees
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Great Ormond Street Hospital for Children NHS Foundation Trust
Sam Loughlin
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Great Ormond Street Hospital for Children NHS Foundation Trust
Alison Male
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Great Ormond Street Hospital for Children NHS Foundation Trust
Deborah Morrogh
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Great Ormond Street Hospital for Children NHS Foundation Trust
Elisabeth Rosser
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Great Ormond Street Hospital for Children NHS Foundation Trust
Richard H. Scott
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Great Ormond Street Hospital for Children NHS Foundation Trust
Louise C. Wilson
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Guy's Hospital
Ana Beleza‐Meireles
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Guy's Hospital
Charu Deshpande
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Guy's Hospital
Frances Flinter
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Guy's Hospital
Muriel Holder
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Guy's Hospital
Melita Irving
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Guy's Hospital
Louise Izatt
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Guy's Hospital
Dragana Josifova
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Guy's Hospital
Shehla Mohammed
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Guy's Hospital
Aneta Molenda
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Guy's Hospital
Leema Robert
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Guy's Hospital
Wendy Wassyng Roworth
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Guy's Hospital
Deborah Ruddy
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Guy's Hospital
Mina Ryten
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Guy's Hospital
Shu Yau
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Chapel Allerton Hospital
Christopher Bennett
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Chapel Allerton Hospital
Moira Blyth
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Chapel Allerton Hospital
Jennifer Campbell
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Chapel Allerton Hospital
Andrea Coates
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Chapel Allerton Hospital
Angus Dobbie
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Chapel Allerton Hospital
Sarah Hewitt
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Chapel Allerton Hospital
Emma Hobson
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Chapel Allerton Hospital
Eilidh Jackson
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Chapel Allerton Hospital
Rosalyn Jewell
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Chapel Allerton Hospital
Alison Kraus
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Chapel Allerton Hospital
Katrina Prescott
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Chapel Allerton Hospital
Eamonn Sheridan
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Chapel Allerton Hospital
Jenny Thomson
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Nottingham University Hospitals NHS Trust
Kirsty Bradshaw
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Nottingham University Hospitals NHS Trust
Abhijit Dixit
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Nottingham University Hospitals NHS Trust
Jacqueline Eason
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Nottingham University Hospitals NHS Trust
Rebecca L. Haines
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Nottingham University Hospitals NHS Trust
Rachel Harrison
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Nottingham University Hospitals NHS Trust
Stacey Mutch
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Nottingham University Hospitals NHS Trust
Ajoy Sarkar
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Nottingham University Hospitals NHS Trust
Claire Searle
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Nottingham University Hospitals NHS Trust
Nora Shannon
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Nottingham University Hospitals NHS Trust
Abid Sharif
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Nottingham University Hospitals NHS Trust
Mohnish Suri
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Leicester Royal Infirmary
Pradeep Vasudevan
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University of Liverpool
Natalie Canham
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University of Liverpool
Ian O. Ellis
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University of Liverpool
Lynn Greenhalgh
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University of Liverpool
Emma Howard
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University of Liverpool
Victoria Stinton
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University of Liverpool
Andrew Swale
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University of Liverpool
Astrid Weber
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St Mary's Hospital
Siddharth Banka
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St Mary's Hospital
Catherine Breen
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St Mary's Hospital
Tracy A. Briggs
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St Mary's Hospital
Emma Burkitt‐Wright
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St Mary's Hospital
Kate Chandler
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St Mary's Hospital
Jill Clayton‐Smith
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St Mary's Hospital
Dian Donnai
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St Mary's Hospital
Sofia Douzgou
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St Mary's Hospital
Lorraine Gaunt
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St Mary's Hospital
Elizabeth Jones
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St Mary's Hospital
Bronwyn Kerr
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St Mary's Hospital
Claire Langley
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St Mary's Hospital
Kay Metcalfe
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St Mary's Hospital
Audrey Smith
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St Mary's Hospital
Ronnie Wright
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Newcastle upon Tyne Hospitals NHS Foundation Trust
David Bourn
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Newcastle upon Tyne Hospitals NHS Foundation Trust
John Burn
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Newcastle upon Tyne Hospitals NHS Foundation Trust
Richard Fisher
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Newcastle upon Tyne Hospitals NHS Foundation Trust
Steve Hellens
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Newcastle upon Tyne Hospitals NHS Foundation Trust
Alex Henderson
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Newcastle upon Tyne Hospitals NHS Foundation Trust
Tara Montgomery
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Newcastle upon Tyne Hospitals NHS Foundation Trust
Miranda Splitt
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Newcastle upon Tyne Hospitals NHS Foundation Trust
Volker Straub
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Newcastle upon Tyne Hospitals NHS Foundation Trust
Michael Wright
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Newcastle upon Tyne Hospitals NHS Foundation Trust
Simon Zwolinski
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London North West Healthcare NHS Trust
Zoe Allen
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London North West Healthcare NHS Trust
Birgitta Bernhard
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London North West Healthcare NHS Trust
Angela F. Brady
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London North West Healthcare NHS Trust
Claire Brooks
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London North West Healthcare NHS Trust
Louise Busby
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London North West Healthcare NHS Trust
Virginia Clowes
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London North West Healthcare NHS Trust
Neeti Ghali
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London North West Healthcare NHS Trust
Susan Holder
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London North West Healthcare NHS Trust
Rita Ibitoye
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London North West Healthcare NHS Trust
Emma Wakeling
Edward Blair
Jenny Carmichael
Deirdre Cilliers
Susan Clasper
Richard J. Gibbons
Usha Kini
Tracy Lester
Andrea H. Németh
Joanna Poulton
Sue Price
Debbie Shears
Helen Stewart
Andrew O.M. Wilkie
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Sheffield Children's NHS Foundation Trust
Shadi Albaba
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Sheffield Children's NHS Foundation Trust
Duncan Baker
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Sheffield Children's NHS Foundation Trust
Meena Balasubramanian
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Sheffield Children's NHS Foundation Trust
Diana Johnson
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Sheffield Children's NHS Foundation Trust
Michael Parker
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Sheffield Children's NHS Foundation Trust
Oliver Quarrell
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Sheffield Children's NHS Foundation Trust
A. Stewart
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Sheffield Children's NHS Foundation Trust
Josh Willoughby
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St George's, University of London
Andrew H. Crosby
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St George's, University of London
Frances Elmslie
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St George's, University of London
Tessa Homfray
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St George's, University of London
Huilin Jin
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St George's, University of London
Nayana Lahiri
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St George's, University of London
Sahar Mansour
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St George's, University of London
Karen Marks
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St George's, University of London
Meriel McEntagart
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St George's, University of London
Anand Saggar
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St George's, University of London
Kate Tatton‐Brown
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Glan Clwyd Hospital
Rachel Butler
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Glan Clwyd Hospital
Angus Clarke
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Glan Clwyd Hospital
Sian Corrin
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Glan Clwyd Hospital
Andrew E. Fry
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Glan Clwyd Hospital
Arveen Kamath
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Glan Clwyd Hospital
Emma McCann
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Glan Clwyd Hospital
Hood Mugalaasi
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Glan Clwyd Hospital
Caroline Pottinger
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Glan Clwyd Hospital
Annie Procter
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Glan Clwyd Hospital
Julian R. Sampson
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Glan Clwyd Hospital
Francis H. Sansbury
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Glan Clwyd Hospital
Vinod Varghese
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Salisbury District Hospital
Diana Baralle
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Salisbury District Hospital
Alison Callaway
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Salisbury District Hospital
Emma J. Cassidy
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Salisbury District Hospital
Stacey Daniels
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Salisbury District Hospital
Andrew G. L. Douglas
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Salisbury District Hospital
Nicola Foulds
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Salisbury District Hospital
David Hunt
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Salisbury District Hospital
Mira Kharbanda
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Salisbury District Hospital
Katherine Lachlan
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Salisbury District Hospital
Catherine Mercer
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Salisbury District Hospital
Lucy Side
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Salisbury District Hospital
I. Karen Temple
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Salisbury District Hospital
Diana Wellesley
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Radboud University Nijmegen
Lisenka E.L.M. Vissers
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Radboud University Nijmegen
Jane Juusola
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University of Exeter
Caroline F. Wright
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University of Exeter
Han G. Brunner
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Radboud University Nijmegen
Helen V. Firth
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Western General Hospital
David Fitzpatrick
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Western General Hospital
Jeffrey C. Barrett
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Wellcome Sanger Institute
Matthew E. Hurles
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Radboud University Nijmegen
Christian Gilissen
·
Radboud University Nijmegen
Kyle Retterer