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Ruth Armstrong

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Helen Baxendale

  • Department for Children, Schools and Families

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Lisa Devlin

  • Belfast City Hospital

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Keiichi Ozono

  • Osaka University Graduate School of Medicine

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Ruth Armstrong

  • Anglia Regional Genetics Service
  • Addenbrooke's Hospital
  • University of Cambridge
  • CRUK Cancer Research UK
  • NIHR Cambridge Biomedical Research Centre

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Sylvia Richardson

  • Imperial College London

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Charaka Hadinnapola

  • Cambridge University Hospitals NHS Foundation Trust
  • Department of Medicine

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Sally Ann Lynch

  • Children's University Hospital, Dublin

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Christopher J. Rhodes

  • Imperial College London

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Soo-Mi Park

  • Cambridge University Hospitals NHS Foundation Trust

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Cheng Hock Toh

  • Royal Liverpool and Broadgreen University Hospitals NHS Trust
  • University of Liverpool

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Sofie Ashford

  • Cambridge University Hospitals NHS Foundation Trust
  • Department of Haematology

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Alasdair P. Parker

  • Cambridge University Hospital NHS Foundation Trust

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Miranda Splitt

  • Newcastle upon Tyne Hospitals NHS Foundation Trust

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Rutendo Mapeta

  • Cambridge University Hospitals NHS Foundation Trust
  • Newcastle University
  • Wellcome Sanger Institute

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Ernest Turro

  • Cambridge University Hospitals NHS Foundation Trust
  • University of Cambridge

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Allan Lawrie

  • University of Sheffield
  • Immunity & Cardiovascular Disease

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Matthew A. Brown

  • Queensland University of Technology QUT

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Anton Vonk Noordegraaf

  • VU University Hospital

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Joanna Pepke-Zaba

  • Royal Papworth Hospital NHS Foundation Trust

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Marc Humbert

  • University of Paris XI - University of Paris-Sud
  • INSERM
  • Bicêtre Hospital
  • Université Paris-Saclay
  • Le Plessis Robinson

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Andrew Webster

  • Moorfields Eye Hospital NHS Foundation Trust
  • UCL University College London
  • York Trials Unit, York University, York, UK.
  • Leeds Teaching Hospitals NHS Trust

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William Astle

  • McGill University
  • Department of Haematology
  • University of Cambridge
  • Cambridge University Hospitals NHS Foundation Trust

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Vincent Plagnol

  • UCL University College London

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Fiona Lalloo

  • Manchester University NHS Foundation Trust
  • St Mary's Hospital

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Taco W. Kuijpers

  • Amsterdam Medical Center
  • AMC Academic Medical Center

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Julie Vogt

  • Birmingham Women's NHS Foundation Trust

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Andrew J. Peacock

  • Golden Jubilee Hospital
  • Golden Jubilee National Hospital

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Detelina Grozeva

  • Cardiff Law School

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Martin R. Wilkins

  • Imperial College London
  • National Heart and Lung Institute

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Waseem Qasim

  • UCL Great Ormond Street Institute of Child Health
  • Great Ormond Street Hospital for Children NHS Foundation Trust

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Penelope Stein

  • King's College London

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Eleanor Rattenberry

  • Birmingham Women's NHS Foundation Trust

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Roger D. James

  • Cambridge University Hospitals NHS Foundation Trust

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Michael A. Laffan

  • Imperial College London

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Siddharth Banka

  • Central Manchester University Hospitals NHS Foundation Trust
  • Manchester University NHS Foundation Trust
  • University of Manchester

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Anthony T. Moore

  • UCL University College London
  • Moorfields Eye Hospital NHS Foundation Trust

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Eleanor Dewhurst

  • Cambridge University Hospitals NHS Foundation Trust

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Simon Holden

  • Addenbrooke's Hospital
  • Cambridge University Hospital NHS Foundation Trust

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Emma R. Woodward

  • University of Birmingham
  • West Midlands Regional Clinical Genetics Service
  • Birmingham Women's NHS Foundation Trust
  • Manchester University NHS Foundation Trust
  • Central Manchester University Hospitals NHS Foundation Trust

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Tom L Blundell

  • Cambridge University Hospitals NHS Foundation Trust
  • Astex Technology

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Daniel P. Gale

  • UCL University College London

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Hannah Titheradge

  • Department of Clinical Genetics
  • Birmingham Women's NHS Foundation Trust

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Shelagh Joss

  • Queen Elizabeth University Hospital
  • NHS Greater Glasgow and Clyde

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Evan Reid

  • Cambridge Institute for Medical Research

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Jennifer L. Martin

  • NIHR BioResource-Rare Diseases (M.H.
  • The Australian Centre for Cannabinoid Clinical and Research Excellence (ACRE)
  • University of Newcastle, Australia

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Patrick F. Chinnery

  • Newcastle University
  • Cambridge University Hospitals NHS Foundation Trust
  • MRC Mitochondrial Biology Unit
  • Cambridge University Department of Clinical Neurosciences and Cambridge University Hospitals NHS Foundation Trust

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Esther Kinning

  • Department of Clinical Genetics
  • Royal Hospital for Sick Children, Glasgow
  • Southern General Hospital Glasgow

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Sinisa Savic

  • St James's University Hospital
  • Leeds Teaching Hospitals NHS Trust

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Stefan Gräf

  • Cambridge University Hospitals NHS Foundation Trust
  • NIHR BioResource - Rare Diseases
  • NIH National Institutes of Health
  • NIHR BioResource for Translational Research
  • Heart and Lung Research Institute
  • Department of Medicine

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Fiona Kennedy

  • National Hospital

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Gavin Arno

  • UCL University College London
  • Moorfields Eye Hospital NHS Foundation Trust

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Marta Bleda

  • Cambridge University Hospitals NHS Foundation Trust
  • Genomics England Ltd.
  • Department of Medicine
  • Alliance Manchester Business School

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John Wharton

  • Imperial College London
  • National Heart and Lung Institute

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Isabella Quinti

  • School of Medicine

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Anne M. Kelly

  • University of Cambridge
  • Cambridge University Hospitals NHS Foundation Trust

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Genevieve Wright

  • Moorfields Eye Hospital NHS Foundation Trust

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Timothy J Aitman

  • Imperial College London
  • University of Edinburgh
  • BMC, Faculty of Medicine
  • NUI Galway
  • Medical Schoo

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Jane Hurst

  • Department of Clinical Genetics
  • Great Ormond Street Hospital for Children NHS Foundation Trust

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Sofia Papadia

  • Cambridge University Hospitals NHS Foundation Trust
  • Department of Public Health and Primary Care

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Ilenia Simeoni

  • Cambridge University Hospitals NHS Foundation Trust

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Tamam Bakchoul

  • University Hospital Tübingen

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David G. Kiely

  • Histopathology Department, Royal Hallamshire Hospital, Sheffield, UK.
  • Sheffield Clinical Research Facility
  • Immunity & Cardiovascular Disease

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David Bennett

  • University of Siena

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F. Lucy Raymond

  • Cambridge University Hospitals NHS Foundation Trust
  • Cambridge Institute for Medical Research

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Lynne M. Bird

  • University of California at San Diego

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Sarju G. Mehta

  • Cambridge University Hospital NHS Foundation Trust

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Christopher Penkett

  • Cambridge University Hospitals NHS Foundation Trust

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Hilary J Longhurst

  • Royal London Hospital (Barts and the London NHS Trust)

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Maria Bitner-Glindzicz

  • UCL University College London
  • UCL Great Ormond Street Institute of Child Health
  • Great Ormond Street Hospital for Children NHS Foundation Trust

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Michael D Browning

  • University of Oxford
  • Oxford Health NHS Foundation Trust

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Umasuthan Srirangalingam

  • Barts and The London Queen Mary's School of Medicine and Dentistry
  • St Bartholomew's Hospital
  • UCL Hospitals NHS Foundation Trust

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Nathalie Kingston

  • Cambridge University Hospitals NHS Foundation Trust
  • Department of Haematology
  • University of Leeds
  • University of Kent

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Gail Kirby

  • University of Birmingham
  • West Midlands Regional Clinical Genetics Service
  • Birmingham Women's NHS Foundation Trust

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Louise Daugherty

  • Genomics England Ltd.

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Andreas Greinacher

  • Institute for Diagnostic Radiology and Neuroradiology
  • Department of Internal Medicine B
  • Ernst-Moritz-Arndt-Universitat Greifswald

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Jay Suntharalingam

  • Royal United Hospitals Bath NHS Foundation Trust
  • United Kingdom (R.V.M.R.

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Rohit Ghurye

  • King’s Health Partners

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Hans J. Stauss

  • Royal Free London NHS Foundation Trust

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Marie Scully

  • UCL Hospitals NHS Foundation Trust

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Sofia Grigoriadou

  • Royal London Hospital (Barts and the London NHS Trust)

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Richard Antrobus

  • University Hospitals Birmingham NHS Foundation Trust

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Nichola Cooper

  • Imperial College London

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Angela F Brady

  • University of Cambridge
  • Primary Care Unit, Department of Public Health and Primary Care, Institute of Public Health
  • North West Thames Regional Genetics Service
  • North West Thames Regional Genetics Centre
  • Northwick Park and St. Mark's Hospital
  • Department of Clinical Genetics
  • Northwick Park Hospital
  • Middlesex

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Salih Tuna

  • Cambridge University Hospitals NHS Foundation Trust

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Kevin Rue-Albrecht

  • Kennedy Institute of Rheumatology

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Deborah Whitehorn

  • Cambridge University Hospitals NHS Foundation Trust
  • NIHR BioResource - Rare Diseases

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Shahin Moledina

  • GREAT ORMOND STREET HOSPITAL
  • UCL University College London
  • Great Ormond Street Hospital for Children NHS Foundation Trust

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Scott Hackett

  • Newcastle University

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Kathleen Stirrups

  • Wellcome Sanger Institute
  • Cambridge University Hospitals NHS Foundation Trust
  • Department of Haematology

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Michel Michaelides

  • Moorfields Eye Hospital NHS Foundation Trust
  • UCL University College London

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David Allsup

  • Hull York Medical School
  • Castle Hill Hospital
  • The Clatterbridge Cancer Centre NHS Foundation Trust

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Eamonn Maher

  • Department of Clinical Genetics
  • University of Birmingham

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Patrick J. Morrison

  • UMC University Medical Center Utrecht
  • Belfast Health and Social Care Trust
  • Queen's University Belfast
  • Belfast City Hospital
  • Department of Haematology, Belfast City Hospital

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Nicholas Morrell

  • University of Cambridge

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Natalie Canham

  • Medway NHS Foundation Trust
  • Northwick Park Hospital

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Lionel Van Maldergem

  • Université de Franche-Comté

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Robert H H Henderson

  • UCL University College London
  • Moorfields Eye Hospital NHS Foundation Trust

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Suthesh Sivapalaratnam

  • University of Amsterdam
  • Massachusetts General Hospital
  • AMC Academic Medical Center
  • Cambridge University Hospitals NHS Foundation Trust

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Carmen M. Treacy

  • Cambridge University Hospitals NHS Foundation Trust
  • Royal Papworth Hospital NHS Foundation Trust

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Paul Gissen

  • Laboratory for Molecular Cell Biology
  • UCL University College London
  • Honorary Consultant in Paediatric Metabolic Medicine
  • Great Ormond Street Hospital and MRC Laboratory for Molecular Cell Biology
  • UCL Great Ormond Street Institute of Child Health
  • Birmingham Children's Hospital NHS Trust
  • Great Ormond Street Hospital for Children NHS Foundation Trust
  • National Institute of Health Research Great Ormond Street Biomedical Research Centre

External person

D. Gareth R Evans

  • University of Manchester

External person

Hana Alachkar

  • Salford Royal Hospital Foundation Trust

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J. Gerry Coghlan

  • National Hospital for Neurology and Neurosurgery
  • UCL University College London
  • England (G.C.)
  • Royal Free London NHS Foundation Trust
  • Royal Free London NHS FT and UCL

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Sergey Nejentsev

  • Cambridge University Hospitals NHS Foundation Trust

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Valerie Cormier-Daire

  • University Paris Descartes

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Andrew R. Webster

  • UCL University College London
  • Moorfields Eye Hospital NHS Foundation Trust

External person

Nicola Bradshaw

  • University of Cambridge
  • Primary Care Unit, Department of Public Health and Primary Care, Institute of Public Health
  • West of Scotland Regional Genetics Service

External person

Colin Church

  • Golden Jubilee Hospital
  • Golden Jubilee National Hospital
  • Queen Elizabeth University Hospital, Glasgow

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Rainer Doffinger

  • King's College Hospital
  • Cambridge University Hospital NHS Foundation Trust
  • UCL Hospitals NHS Foundation Trust

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Jecko Thachil

  • Royal Liverpool and Broadgreen University Hospitals NHS Trust
  • University of Liverpool

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Chris Patch

  • GSTT Guy's and St Thomas' NHS Foundation Trust
  • Queen Mary University of London

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Eric Oksenhendler

  • University of Paris VII - Denis Diderot University

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Olga Shamardina

  • NIHR BioResource-Rare Diseases (M.H.
  • Cambridge University Hospitals NHS Foundation Trust
  • NIHR BioResource - Rare Diseases

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Evangeline Wassmer

  • Birmingham Children's Hospital NHS Trust

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Richard N. Sandford

  • Cambridge Institute for Medical Research

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Matthias Haimel

  • NIHR BioResource-Rare Diseases (M.H.
  • Cambridge University Hospitals NHS Foundation Trust
  • NIHR BioResource - Rare Diseases
  • Department of Medicine

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Stuart Rankin

  • Cambridge University Hospitals NHS Foundation Trust

External person

Joan Paterson

  • University of Cambridge
  • Primary Care Unit, Department of Public Health and Primary Care, Institute of Public Health
  • East Anglian Regional Genetics Service
  • Anglia Regional Genetics Service
  • Addenbrooke's Hospital

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Stephen Jolles

  • University Hospital of Wales

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Grant Hayman

  • Epsom and St Helier University Hospitals NHS Trust

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Adrian Thrasher

  • UCL Great Ormond Street Institute of Child Health
  • Medway NHS Foundation Trust
  • European Society of Gene and Cell Therapy
  • Great Ormond Street Hospital for Children NHS Foundation Trust
  • Windrush Court
  • UCL University College London
  • Imperial College London

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Irene AG Roberts

  • Imperial College London
  • Imperial College Healthcare NHS Trust
  • Hammersmith Hospital
  • University of Oxford
  • Weatherall Institute of Molecular Medicine
  • Ouh Nhs Ft and Nihr Oxford Biomedical Research Centre

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Robert E. MacLaren

  • UCL University College London
  • Moorfields Eye Hospital NHS Foundation Trust
  • University of Oxford
  • Oxford University Hospitals Trust
  • Oxford Eye Hospital

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Debbie Shipley

  • Freeman Hospital

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Emma Clement

  • UCL University College London

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Anita Chandra

  • Cambridge University Hospital NHS Foundation Trust
  • Babraham Institute
  • Cambridge University Hospitals NHS Foundation Trust

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Tadbir K. Bariana

  • Royal Free London NHS FT and UCL
  • UCL University College London

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Dorothy A Thompson

  • Great Ormond Street Hospital for Children NHS Foundation Trust

External person

Mark R. Toshner

  • Royal Papworth Hospital NHS Foundation Trust
  • Cambridge University Hospitals NHS Foundation Trust
  • NIHR Respiratory Translational Research Collaboration
  • Department of Medicine
  • Authors contributed equally to this work
  • Heart and Lung Research Institute
  • UCL University College London

External person

Peter Collins

  • National Heart and Lung Institute
  • Royal Brompton & Harefield Hospital Charitable Fund

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Alan Greenhalgh

  • Freeman Hospital

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Daniel Greene

  • Cambridge University Hospitals NHS Foundation Trust

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Charu Deshpande

  • GSTT Guy's and St Thomas' NHS Foundation Trust
  • King's College London; Guy's & St Thomas' NHS Foundation Trust

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Richard H. Scott

  • Department of Clinical Genetics

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Dinakantha Kumararatne

  • Cambridge University Hospital NHS Foundation Trust

External person

Willem~H. Ouwehand

  • Cambridge University Hospitals NHS Foundation Trust
  • NHS Blood and Transplant
  • Wellcome Sanger Institute
  • European Molecular Biology Laboratory Cambridge
  • University of Dundee
  • King's College London

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Jackie Cook

  • Sheffield Children's Hospital

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Helen V Firth

  • Cambridge University Hospitals NHS Foundation Trust
  • Cambridge University Hospital NHS Foundation Trust

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Rachel Linger

  • Cambridge University Hospitals NHS Foundation Trust
  • Department of Public Health and Primary Care

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Manju A. Kurian

  • Great Ormond St Hosp Sick Children, University College London, University of London
  • UCL University College London
  • UCL Great Ormond Street Institute of Child Health
  • Great Ormond Street Hospital for Children NHS Foundation Trust

External person

Robert Henderson

  • University of Edinburgh

External person

Rosie Hague

  • Department of Royal Hospital for Children

External person

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