×
2020
Whole-genome sequencing of patients with rare diseases in a national health system.
[DOI]
Ernest Turro
,
William J. Astle
,
Karyn Megy
,
Stefan Gräf
,
Daniel Greene
,
Olga Shamardina
,
Hana Lango Allen
,
Alba Sanchis-Juan
,
Mattia Frontini
,
Chantal Thys
,
Jonathan Stephens
,
Rutendo Mapeta
,
Oliver S. Burren
,
Kate Downes
,
Matthias Haimel
,
Salih Tuna
,
Sri V. V. Deevi
,
Timothy J. Aitman
,
David L. H. Bennett
,
Paul Calleja
,
Keren Carss
,
Mark J. Caulfield
,
Patrick F. Chinnery
,
Peter H. Dixon
,
Daniel P. Gale
,
Roger James
,
Ania Koziell
,
Michael A. Laffan
,
Adam P. Levine
,
Eamonn R. Maher
,
Hugh S. Markus
,
Joannella Morales
,
Nicholas W. Morrell
,
Andrew D. Mumford
,
Elizabeth Ormondroyd
,
Stuart Rankin
,
Augusto Rendon
,
Sylvia Richardson
,
Irene Roberts
,
Noemi B. A. Roy
,
Moin A. Saleem
,
Kenneth G. C. Smith
,
Hannah Stark
,
Rhea Y. Y. Tan
,
Andreas C. Themistocleous
,
Adrian J. Thrasher
,
Hugh Watkins
,
Andrew R. Webster
,
Martin R. Wilkins
,
Catherine Williamson
,
James Whitworth
,
Sean Humphray
,
David R. Bentley
,
Stephen Abbs
,
Lara Abulhoul
,
Julian Adlard
,
Munaza Ahmed
,
Hana Alachkar
,
David J. Allsup
,
Jeff Almeida-King
,
Philip Ancliff
,
Richard Antrobus
,
Ruth Armstrong
,
Gavin Arno
,
Sofie Ashford
,
Anthony Attwood
,
Paul Aurora
,
Christian Babbs
,
Chiara Bacchelli
,
Tamam Bakchoul
,
Siddharth Banka
,
Tadbir Bariana
,
Julian Barwell
,
Joana Batista
,
Helen E. Baxendale
,
Phil L. Beales
,
Agnieszka Bierzynska
,
Tina Biss
,
Maria A. K. Bitner-Glindzicz
,
Graeme C. M. Black
,
Marta Bleda
,
Iulia Blesneac
,
Detlef Bockenhauer
,
Harm Bogaard
,
Christian J. Bourne
,
Sara Boyce
,
John R. Bradley
,
Eugene Bragin
,
Gerome Breen
,
Paul Brennan
,
Carole Brewer
,
Matthew Brown
,
Andrew C. Browning
,
Michael J. Browning
,
Rachel J. Buchan
,
Matthew S. Buckland
,
Teofila Bueser
,
Carmen Bugarin Diz
,
John Burn
,
Siobhan O. Burns
,
Nigel Burrows
,
Carolyn Campbell
,
Gerald Carr-White
,
Ruth Casey
,
Jenny Chambers
,
John Chambers
,
Melanie M. Y. Chan
,
Calvin Cheah
,
Floria Cheng
,
Manali Chitre
,
Martin T. Christian
,
Colin Church
,
Jill Clayton-Smith
,
Maureen Cleary
,
Naomi Clements Brod
,
Gerry Coghlan
,
Elizabeth Colby
,
Trevor R. P. Cole
,
Janine Collins
,
Peter W. Collins
,
Camilla Colombo
,
Cecilia J. Compton
,
Robin Condliffe
,
Stuart A. Cook
,
H. Terence Cook
,
Nichola Cooper
,
Paul A. Corris
,
Abigail Furnell
,
Fiona Cunningham
,
Nicola S. Curry
,
Antony J. Cutler
,
Matthew J. Daniels
,
Mehul Dattani
,
Louise C. Daugherty
,
John Davis
,
Anthony De Soyza
,
Timothy Dent
,
Charu Deshpande
,
Eleanor F. Dewhurst
,
Sofia Douzgou
,
Anna M. Drazyk
,
Elizabeth Drewe
,
Daniel Duarte
,
Tina Dutt
,
J. David M. Edgar
,
Karen Edwards
,
William Egner
,
Melanie N. Ekani
,
Perry Elliott
,
Wendy N. Erber
,
Marie Erwood
,
Maria C. Estiu
,
Dafydd Gareth Evans
,
Gillian Evans
,
Tamara Everington
,
Mélanie Eyries
,
Hiva Fassihi
,
Remi Favier
,
Jack Findhammer
,
Debra Fletcher
,
Frances A. Flinter
,
R. Andres Floto
,
Tom Fowler
,
James Fox
,
Amy J. Frary
,
Courtney E. French
,
Kathleen Freson
,
Henning Gall
,
Vijeya Ganesan
,
Michael Gattens
,
Claire Geoghegan
,
Terence S. A. Gerighty
,
Ali G. Gharavi
,
Stefano Ghio
,
Hossein-Ardeschir Ghofrani
,
J. Simon R. Gibbs
,
Kate Gibson
,
Kimberly C. Gilmour
,
Barbara Girerd
,
Nicholas S. Gleadall
,
Sarah Goddard
,
David B. Goldstein
,
Keith Gomez
,
Pavels Gordins
,
David Gosal
,
Jodie Graham
,
Luigi Grassi
,
Lynn Greenhalgh
,
Andreas Greinacher
,
Paolo Gresele
,
Philip Griffiths
,
Sofia Grigoriadou
,
Russell J. Grocock
,
Detelina Grozeva
,
Mark Gurnell
,
Scott Hackett
,
Charaka Hadinnapola
,
William M. Hague
,
Rosie Hague
,
Matthew Hall
,
Helen L. Hanson
,
Eshika Haque
,
Kirsty Harkness
,
Andrew R. Harper
,
Claire L. Harris
,
Daniel Hart
,
Ahamad Hassan
,
Grant Hayman
,
Alex Henderson
,
Archana Herwadkar
,
Jonathan Hoffman
,
Simon Holden
,
Rita Horvath
,
Henry Houlden
,
Arjan C. Houweling
,
Luke S. G. E. Howard
,
Fengyuan Hu
,
Gavin Hudson
,
Joseph Hughes
,
Aarnoud P. Huissoon
,
Marc Humbert
,
Sarah Hunter
,
Matthew E. Hurles
,
Melita Irving
,
Louise Izatt
,
Sally A. Johnson
,
Stephen Jolles
,
Jennifer Jolley
,
Dragana Josifova
,
Neringa Jurkute
,
Tim Karten
,
Johannes Karten
,
Mary A. Kasanicki
,
Hanadi Kazkaz
,
Rashid Kazmi
,
Peter Kelleher
,
Anne M. Kelly
,
Wilf Kelsall
,
Carly Kempster
,
David G. Kiely
,
Nathalie Kingston
,
Robert Klima
,
Nils Koelling
,
Myrto Kostadima
,
Gabor Kovacs
,
Roman Kreuzhuber
,
Taco W. Kuijpers
,
Ajith Kumar
,
Dinakantha Kumararatne
,
Manju A. Kurian
,
Fiona Lalloo
,
Michele Lambert
,
Allan Lawrie
,
D. Mark Layton
,
Nick Lench
,
Claire Lentaigne
,
Tracy Lester
,
Rachel Linger
,
Hilary Longhurst
,
Lorena E. Lorenzo
,
Eleni Louka
,
Paul A. Lyons
,
Rajiv D. Machado
,
Robert V. MacKenzie Ross
,
Bella Madan
,
Jesmeen Maimaris
,
Samantha Malka
,
Sarah Mangles
,
Kevin J. Marchbank
,
Stephen Marks
,
Hanns-Ulrich Marschall
,
Andrew G. Marshall
,
Jennifer Martin
,
Mary Mathias
,
Emma Matthews
,
Heather Maxwell
,
Paul McAlinden
,
Mark I. McCarthy
,
Harriet McKinney
,
Aoife McMahon
,
Stuart Meacham
,
Adam J. Mead
,
Ignacio Medina Castello
,
Sarju G. Mehta
,
Michel Michaelides
,
Carolyn Millar
,
Shehla N. Mohammed
,
Shahin Moledina
,
David Montani
,
Anthony T. Moore
,
Monika Mozere
,
Keith W. Muir
,
Andrea H. Nemeth
,
William G. Newman
,
Michael Newnham
,
Sadia Noorani
,
Paquita Nurden
,
Jennifer O'Sullivan
,
Samya Obaji
,
Chris Odhams
,
Steven Okoli
,
Andrea Olschewski
,
Horst Olschewski
,
Kai Ren Ong
,
S. Helen Oram
,
Willem H. Ouwehand
,
Claire Palles
,
Sofia Papadia
,
Soo-Mi Park
,
David Parry
,
Smita Patel
,
Joan Paterson
,
Andrew Peacock
,
Simon H. Pearce
,
John Peden
,
Kathelijne Peerlinck
,
Christopher J. Penkett
,
Joanna Pepke-Zaba
,
Romina Petersen
,
Clarissa Pilkington
,
Kenneth E. S. Poole
,
Radhika Prathalingam
,
Bethan Psaila
,
Angela Pyle
,
Richard Quinton
,
Shamima Rahman
,
Anupama Rao
,
F. Lucy Raymond
,
Paula J. Rayner-Matthews
,
Christine Rees
,
Tara Renton
,
Christopher J. Rhodes
,
Andrew S. C. Rice
,
Alex Richter
,
Leema Robert
,
Anthony Rogers
,
Sarah J. Rose
,
Robert Ross-Russell
,
Catherine Roughley
,
Deborah M. Ruddy
,
Omid Sadeghi-Alavijeh
,
Nilesh J. Samani
,
Crina Samarghitean
,
Ravishankar B. Sargur
,
Robert N. Sarkany
,
Simon Satchell
,
Sinisa Savic
,
John A. Sayer
,
Genevieve Sayer
,
Laura Scelsi
,
Andrew M. Schaefer
,
Sol Schulman
,
Richard Scott
,
Marie Scully
,
Claire Searle
,
Werner Seeger
,
Arjune Sen
,
W. A. Carrock Sewell
,
Denis Seyres
,
Neil Shah
,
Susan E. Shapiro
,
Adam C. Shaw
,
Patrick J. Short
,
Keith Sibson
,
Lucy Side
,
Ilenia Simeoni
,
Michael A. Simpson
,
Matthew C. Sims
,
Suthesh Sivapalaratnam
,
Damian Smedley
,
Katherine R. Smith
,
Katie Snape
,
Nicole Soranzo
,
Florent Soubrier
,
Laura Southgate
,
Olivera Spasic-Boskovic
,
Simon Staines
,
Emily Staples
,
Charles A. Steward
,
Kathleen E. Stirrups
,
Alex Stuckey
,
Jay Suntharalingam
,
Emilia M. Swietlik
,
Petros Syrris
,
R. Campbell Tait
,
Kate Talks
,
Katie Tate
,
John M. Taylor
,
Jenny C. Taylor
,
James E. Thaventhiran
,
Ellen Thomas
,
David Thomas
,
Moira J. Thomas
,
Patrick Thomas
,
Kate Thomson
,
Glen Threadgold
,
Tobias Tilly
,
Marc Tischkowitz
,
Catherine Titterton
,
John A. Todd
,
Cheng-Hock Toh
,
Bas Tolhuis
,
Ian P. Tomlinson
,
Mark Toshner
,
Matthew Traylor
,
Carmen Treacy
,
Paul Treadaway
,
Richard Trembath
,
Wojciech Turek
,
Philip Twiss
,
Tom Vale
,
Chris Van Geet
,
Natalie van Zuydam
,
Maarten Vandekuilen
,
Anthony M. Vandersteen
,
Marta Vazquez-Lopez
,
Julie von Ziegenweidt
,
Anton Vonk-Noordegraaf
,
Annette Wagner
,
Quinten Waisfisz
,
Suellen M. Walker
,
Neil Walker
,
Klaudia Walter
,
James S. Ware
,
Christopher Watt
,
Lucy Wedderburn
,
Wei Wei
,
Steven B. Welch
,
Julie Wessels
,
Sarah K. Westbury
,
John-Paul Westwood
,
John Wharton
,
Deborah Whitehorn
,
Andrew O. M. Wilkie
,
Brian T. Wilson
,
Edwin K. S. Wong
,
Nicholas W. Wood
,
Yvette Wood
,
Christopher Geoffrey Woods
,
Emma R. Woodward
,
Stephen J. Wort
,
Austen Worth
,
Michael Wright
,
Katherine Yates
,
Patrick F. K. Yong
,
Timothy Young
,
Ping Yu
,
Patrick Yu-Wai-Man
,
Eliska Zlamalova
Nat., 2020