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Showing 1–14 of 14 results
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Research |
Whole-genome sequencing of patients with rare diseases in a national health system
- 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. 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
- , Timothy J. Aitman
- , Hana Alachkar
- , David J. Allsup
- , Jeff Almeida-King
- , Philip Ancliff
- , Richard Antrobus
- , Ruth Armstrong
- , Gavin Arno
- , Sofie Ashford
- , William J. Astle
- , Anthony Attwood
- , Paul Aurora
- , Christian Babbs
- , Chiara Bacchelli
- , Tamam Bakchoul
- , Siddharth Banka
- , Tadbir Bariana
- , Julian Barwell
- , Joana Batista
- , Helen E. Baxendale
- , Phil L. Beales
- , David L. Bennett
- , David R. Bentley
- , Agnieszka Bierzynska
- , Tina Biss
- , Maria A. K. Bitner-Glindzicz
- , Graeme C. 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
- , Oliver S. Burren
- , Nigel Burrows
- , Paul Calleja
- , Carolyn Campbell
- , Gerald Carr-White
- , Keren Carss
- , Ruth Casey
- , Mark J. Caulfield
- , Jenny Chambers
- , John Chambers
- , Melanie M. Y. Chan
- , Calvin Cheah
- , Floria Cheng
- , Patrick F. Chinnery
- , 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 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
- , Sri V. V. Deevi
- , Timothy Dent
- , Charu Deshpande
- , Eleanor F. Dewhurst
- , Peter H. Dixon
- , Sofia Douzgou
- , Kate Downes
- , 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
- , Mattia Frontini
- , Daniel P. Gale
- , 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
- , Stefan Gräf
- , Jodie Graham
- , Luigi Grassi
- , Daniel Greene
- , 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
- , Matthias Haimel
- , 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. Howard
- , Fengyuan Hu
- , Gavin Hudson
- , Joseph Hughes
- , Aarnoud P. Huissoon
- , Marc Humbert
- , Sean Humphray
- , Sarah Hunter
- , Matthew Hurles
- , Melita Irving
- , Louise Izatt
- , Roger James
- , 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
- , Ania Koziell
- , Roman Kreuzhuber
- , Taco W. Kuijpers
- , Ajith Kumar
- , Dinakantha Kumararatne
- , Manju A. Kurian
- , Michael A. Laffan
- , Fiona Lalloo
- , Michele Lambert
- , Hana Lango Allen
- , Allan Lawrie
- , D. Mark Layton
- , Nick Lench
- , Claire Lentaigne
- , Tracy Lester
- , Adam P. Levine
- , Rachel Linger
- , Hilary Longhurst
- , Lorena E. Lorenzo
- , Eleni Louka
- , Paul A. Lyons
- , Rajiv D. Machado
- , Robert V. MacKenzie Ross
- , Bella Madan
- , Eamonn R. Maher
- , Jesmeen Maimaris
- , Samantha Malka
- , Sarah Mangles
- , Rutendo Mapeta
- , Kevin J. Marchbank
- , Stephen Marks
- , Hugh S. Markus
- , Hanns-Ulrich Marschall
- , Andrew 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
- , Karyn Megy
- , Sarju G. Mehta
- , Michel Michaelides
- , Carolyn Millar
- , Shehla N. Mohammed
- , Shahin Moledina
- , David Montani
- , Anthony T. Moore
- , Joannella Morales
- , Nicholas W. Morrell
- , Monika Mozere
- , Keith W. Muir
- , Andrew D. Mumford
- , 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
- , Elizabeth Ormondroyd
- , 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
- , Stuart Rankin
- , Anupama Rao
- , F. Lucy Raymond
- , Paula J. Rayner-Matthews
- , Christine Rees
- , Augusto Rendon
- , Tara Renton
- , Christopher J. Rhodes
- , Andrew S. C. Rice
- , Sylvia Richardson
- , Alex Richter
- , Leema Robert
- , Irene Roberts
- , Anthony Rogers
- , Sarah J. Rose
- , Robert Ross-Russell
- , Catherine Roughley
- , Noemi B. A. Roy
- , Deborah M. Ruddy
- , Omid Sadeghi-Alavijeh
- , Moin A. Saleem
- , Nilesh Samani
- , Crina Samarghitean
- , Alba Sanchis-Juan
- , 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
- , Olga Shamardina
- , 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
- , Kenneth G. C. Smith
- , Katie Snape
- , Nicole Soranzo
- , Florent Soubrier
- , Laura Southgate
- , Olivera Spasic-Boskovic
- , Simon Staines
- , Emily Staples
- , Hannah Stark
- , Jonathan Stephens
- , Charles Steward
- , Kathleen E. Stirrups
- , Alex Stuckey
- , Jay Suntharalingam
- , Emilia M. Swietlik
- , Petros Syrris
- , R. Campbell Tait
- , Kate Talks
- , Rhea Y. Y. Tan
- , Katie Tate
- , John M. Taylor
- , Jenny C. Taylor
- , James E. Thaventhiran
- , Andreas C. Themistocleous
- , Ellen Thomas
- , David Thomas
- , Moira J. Thomas
- , Patrick Thomas
- , Kate Thomson
- , Adrian J. Thrasher
- , Glen Threadgold
- , Chantal Thys
- , 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
- , Salih Tuna
- , Wojciech Turek
- , Ernest Turro
- , 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
- , Hugh Watkins
- , Christopher Watt
- , Andrew R. Webster
- , Lucy Wedderburn
- , Wei Wei
- , Steven B. Welch
- , Julie Wessels
- , Sarah K. Westbury
- , John-Paul Westwood
- , John Wharton
- , Deborah Whitehorn
- , James Whitworth
- , Andrew O. M. Wilkie
- , Martin R. Wilkins
- , Catherine Williamson
- , Brian T. Wilson
- , Edwin K. S. Wong
- , Nicholas 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
- , Nathalie Kingston
- , Neil Walker
- , John R. Bradley
- , Sofie Ashford
- , Christopher J. Penkett
- , Kathleen Freson
- , Kathleen E. Stirrups
- , F. Lucy Raymond
- & Willem H. Ouwehand
-
Amendments and Corrections | | Open
Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
- Miriam Schmidts
- , Yuqing Hou
- , Claudio R. Cortés
- , Dorus A. Mans
- , Celine Huber
- , Karsten Boldt
- , Mitali Patel
- , Jeroen van Reeuwijk
- , Jean-Marc Plaza
- , Sylvia E. C. van Beersum
- , Zhi Min Yap
- , Stef J. F. Letteboer
- , S. Paige Taylor
- , Warren Herridge
- , Colin A. Johnson
- , Peter J. Scambler
- , Marius Ueffing
- , Hulya Kayserili
- , Deborah Krakow
- , Stephen M. King
- , Saeed Al-Turki
- , Carl Anderson
- , Richard Anney
- , Dinu Antony
- , Jennifer Asimit
- , Mohammad Ayub
- , Jeff Barrett
- , Inês Barroso
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Douglas Blackwood
- , Martin Bobrow
- , Elena Bochukova
- , Patrick Bolton
- , Chris Boustred
- , Gerome Breen
- , Marie-Jo Brion
- , Andrew Brown
- , Mattia Calissano
- , Keren Carss
- , Krishna Chatterjee
- , Lu Chen
- , Sebhattin Cirak
- , Peter Clapham
- , Gail Clement
- , Guy Coates
- , David Collier
- , Catherine Cosgrove
- , Tony Cox
- , Nick Craddock
- , Lucy Crooks
- , Sarah Curran
- , Allan Daly
- , Petr Danecek
- , George Davey Smith
- , Aaron Day-Williams
- , Ian Day
- , Richard Durbin
- , Sarah Edkins
- , Peter Ellis
- , David Evans
- , I. Sadaf Farooqi
- , Ghazaleh Fatemifar
- , David Fitzpatrick
- , Paul Flicek
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Louise Gallagher
- , Tom Gaunt
- , Daniel Geschwind
- , Celia Greenwood
- , Detelina Grozeva
- , Xiaosen Guo
- , Hugh Gurling
- , Deborah Hart
- , Audrey Hendricks
- , Peter Holmans
- , Jie Huang
- , Steve E. Humphries
- , Matt Hurles
- , Pirro Hysi
- , David Jackson
- , Yalda Jamshidi
- , David Jewell
- , Joyce Chris
- , Jane Kaye
- , Thomas Keane
- , John Kemp
- , Karen Kennedy
- , Alastair Kent
- , Anja Kolb-Kokocinski
- , Genevieve Lachance
- , Cordelia Langford
- , Irene Lee
- , Rui Li
- , Yingrui Li
- , Liu Ryan
- , Jouko Lönnqvist
- , Margarida Lopes
- , Daniel G. MacArthur
- , Mangino Massimo
- , Jonathan Marchini
- , John Maslen
- , Shane McCarthy
- , Peter McGuffin
- , Andrew McIntosh
- , Andrew McKechanie
- , Andrew McQuillin
- , Yasin Memari
- , Sarah Metrustry
- , Josine Min
- , Alireza Moayyeri
- , James Morris
- , Dawn Muddyman
- , Francesco Muntoni
- , Kate Northstone
- , Michael O’Donovan
- , Stephen O’Rahilly
- , Alexandros Onoufriadis
- , Karim Oualkacha
- , Michael Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , John Perry
- , Olli Pietilainen
- , Vincent Plagnol
- , Michael A. Quail
- , Lydia Quaye
- , Lucy Raymond
- , Karola Rehnström
- , J. Brent Richards
- , Sue Ring
- , Graham R S Ritchie
- , David B. Savage
- , Nadia Schoenmakers
- , Robert K. Semple
- , Eva Serra
- , Hashem Shihab
- , So-Youn Shin
- , David Skuse
- , Kerrin Small
- , Carol Smee
- , Artigas María Soler
- , Nicole Soranzo
- , Lorraine Southam
- , Tim Spector
- , Beate St Pourcain
- , David St. Clair
- , Jim Stalker
- , Gabriela Surdulescu
- , Jaana Suvisaari
- , Ioanna Tachmazidou
- , Jing Tian
- , Nic Timpson
- , Martin Tobin
- , Ana Valdes
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Louise Wain
- , Klaudia Walter
- , Jun Wang
- , Kirsten Ward
- , Ellie Wheeler
- , Ros Whittall
- , Hywel Williams
- , Kathy Williamson
- , Scott G. Wilson
- , Kim Wong
- , Tamieka Whyte
- , Xu ChangJiang
- , Eleftheria Zeggini
- , Feng Zhang
- , Hou-Feng Zheng
- , Philip L. Beales
- , Lihadh Al-Gazali
- , Carol Wicking
- , Valerie Cormier-Daire
- , Ronald Roepman
- , Hannah M. Mitchison
- & George B. Witman
-
Research | | Open
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
- Simon Haworth
- , Chin Yang Shapland
- , Caroline Hayward
- , Bram P. Prins
- , Janine F. Felix
- , Carolina Medina-Gomez
- , Fernando Rivadeneira
- , Carol Wang
- , Tarunveer S. Ahluwalia
- , Martine Vrijheid
- , Mònica Guxens
- , Jordi Sunyer
- , Ioanna Tachmazidou
- , Klaudia Walter
- , Valentina Iotchkova
- , Andrew Jackson
- , Louise Cleal
- , Jennifer Huffmann
- , Josine L. Min
- , Lærke Sass
- , Paul R. H. J. Timmers
- , Saeed Al Turki
- , Carl A. Anderson
- , Richard Anney
- , Dinu Antony
- , María Soler Artigas
- , Muhammad Ayub
- , Senduran Bala
- , Jeffrey C. Barrett
- , Inês Barroso
- , Phil Beales
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Ewan Birney
- , Douglas Blackwood
- , Martin Bobrow
- , Elena Bochukova
- , Patrick F. Bolton
- , Rebecca Bounds
- , Chris Boustred
- , Gerome Breen
- , Mattia Calissano
- , Keren Carss
- , Ruth Charlton
- , Krishna Chatterjee
- , Lu Chen
- , Antonio Ciampi
- , Sebahattin Cirak
- , Peter Clapham
- , Gail Clement
- , Guy Coates
- , Massimiliano Cocca
- , David A. Collier
- , Catherine Cosgrove
- , Tony Cox
- , Nick Craddock
- , Lucy Crooks
- , Sarah Curran
- , David Curtis
- , Allan Daly
- , Petr Danecek
- , Ian N. M. Day
- , Aaron Day-Williams
- , Anna Dominiczak
- , Thomas Down
- , Yuanping Du
- , Ian Dunham
- , Richard Durbin
- , Sarah Edkins
- , Rosemary Ekong
- , Peter Ellis
- , David M. Evans
- , I. Sadaf Farooqi
- , David R. Fitzpatrick
- , Paul Flicek
- , James Floyd
- , A. Reghan Foley
- , Christopher S. Franklin
- , Marta Futema
- , Louise Gallagher
- , Tom R. Gaunt
- , Matthias Geihs
- , Daniel Geschwind
- , Celia M. T. Greenwood
- , Heather Griffin
- , Detelina Grozeva
- , Xiaosen Guo
- , Xueqin Guo
- , Hugh Gurling
- , Deborah Hart
- , Audrey E. Hendricks
- , Peter Holmans
- , Bryan Howie
- , Jie Huang
- , Liren Huang
- , Tim Hubbard
- , Steve E. Humphries
- , Matthew E. Hurles
- , Pirro Hysi
- , David K. Jackson
- , Yalda Jamshidi
- , Chris Joyce
- , Konrad J. Karczewski
- , Jane Kaye
- , Thomas Keane
- , John P. Kemp
- , Karen Kennedy
- , Alastair Kent
- , Julia Keogh
- , Farrah Khawaja
- , Margriet van Kogelenberg
- , Anja Kolb-Kokocinski
- , Genevieve Lachance
- , Cordelia Langford
- , Daniel Lawson
- , Irene Lee
- , Monkol Lek
- , Rui Li
- , Yingrui Li
- , Jieqin Liang
- , Hong Lin
- , Ryan Liu
- , Jouko Lönnqvist
- , Luis R. Lopes
- , Margarida Lopes
- , Daniel G. MacArthur
- , Massimo Mangino
- , Jonathan Marchini
- , Gaëlle Marenne
- , John Maslen
- , Iain Mathieson
- , Shane McCarthy
- , Peter McGuffin
- , Andrew M. McIntosh
- , Andrew G. McKechanie
- , Andrew McQuillin
- , Yasin Memari
- , Sarah Metrustry
- , Nicola Migone
- , Hannah M. Mitchison
- , Alireza Moayyeri
- , Andrew Morris
- , James Morris
- , Dawn Muddyman
- , Francesco Muntoni
- , Kate Northstone
- , Michael C. O’Donovan
- , Stephen O’Rahilly
- , Alexandros Onoufriadis
- , Karim Oualkacha
- , Michael J. Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy R. Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , Stewart J. Payne
- , John R. B. Perry
- , Olli Pietilainen
- , Vincent Plagnol
- , Rebecca C. Pollitt
- , David J. Porteous
- , Sue Povey
- , Michael A. Quail
- , Lydia Quaye
- , F. Lucy Raymond
- , Karola Rehnström
- , J. Brent Richards
- , Cheryl K. Ridout
- , Susan Ring
- , Graham R. S. Ritchie
- , Nicola Roberts
- , Rachel L. Robinson
- , David B. Savage
- , Peter Scambler
- , Stephan Schiffels
- , Miriam Schmidts
- , Nadia Schoenmakers
- , Richard H. Scott
- , Robert K. Semple
- , Eva Serra
- , Sally I. Sharp
- , Adam Shaw
- , Hashem A. Shihab
- , So-Youn Shin
- , David Skuse
- , Kerrin S. Small
- , Carol Smee
- , Blair H. Smith
- , Nicole Soranzo
- , Lorraine Southam
- , Olivera Spasic-Boskovic
- , Timothy D. Spector
- , David St Clair
- , Jim Stalker
- , Elizabeth Stevens
- , Jianping Sun
- , Gabriela Surdulescu
- , Jaana Suvisaari
- , Petros Syrris
- , Rohan Taylor
- , Jing Tian
- , Martin D. Tobin
- , Ana M. Valdes
- , Anthony M. Vandersteen
- , Parthiban Vijayarangakannan
- , Peter M. Visscher
- , Louise V. Wain
- , James T. R. Walters
- , Guangbiao Wang
- , Jun Wang
- , Yu Wang
- , Kirsten Ward
- , Eleanor Wheeler
- , Tamieka Whyte
- , Hywel J. Williams
- , Kathleen A. Williamson
- , Crispian Wilson
- , Scott G. Wilson
- , Kim Wong
- , ChangJiang Xu
- , Jian Yang
- , Feng Zhang
- , Pingbo Zhang
- , Hou-Feng Zheng
- , George Davey Smith
- , Simon E. Fisher
- , James F. Wilson
- , Tim J. Cole
- , Dietmar Fernandez-Orth
- , Klaus Bønnelykke
- , Hans Bisgaard
- , Craig E. Pennell
- , Vincent W. V. Jaddoe
- , George Dedoussis
- , Nicholas Timpson
- , Eleftheria Zeggini
- , Veronique Vitart
- & Beate St Pourcain
-
Research | | Open
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
- Miriam Bauwens
- , Alejandro Garanto
- , Riccardo Sangermano
- , Sarah Naessens
- , Nicole Weisschuh
- , Julie De Zaeytijd
- , Mubeen Khan
- , Françoise Sadler
- , Irina Balikova
- , Caroline Van Cauwenbergh
- , Toon Rosseel
- , Jim Bauwens
- , Kim De Leeneer
- , Sarah De Jaegere
- , Thalia Van Laethem
- , Meindert De Vries
- , Keren Carss
- , Gavin Arno
- , Ana Fakin
- , Andrew R. Webster
- , Thomy J. L. de Ravel de l’Argentière
- , Yves Sznajer
- , Marnik Vuylsteke
- , Susanne Kohl
- , Bernd Wissinger
- , Timothy Cherry
- , Rob W. J. Collin
- , Frans P. M. Cremers
- , Bart P. Leroy
- & Elfride De Baere
-
Amendments and Corrections | | Open
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
- James H. R. Farmery
- , Mike L. Smith
- , Aarnoud Huissoon
- , Abigail Furnell
- , Adam Mead
- , Adam P. Levine
- , Adnan Manzur
- , Adrian Thrasher
- , Alan Greenhalgh
- , Alasdair Parker
- , Alba Sanchis-Juan
- , Alex Richter
- , Alice Gardham
- , Allan Lawrie
- , Aman Sohal
- , Amanda Creaser-Myers
- , Amy Frary
- , Andreas Greinacher
- , Andreas Themistocleous
- , Andrew J. Peacock
- , Andrew Marshall
- , Andrew Mumford
- , Andrew Rice
- , Andrew Webster
- , Angie Brady
- , Ania Koziell
- , Ania Manson
- , Anita Chandra
- , Anke Hensiek
- , Anna Huis in’t Veld
- , Anna Maw
- , Anne M. Kelly
- , Anthony Moore
- , Anton Vonk Noordegraaf
- , Antony Attwood
- , Archana Herwadkar
- , Ardi Ghofrani
- , Arjan C. Houweling
- , Barbara Girerd
- , Bruce Furie
- , Carmen M. Treacy
- , Carolyn M. Millar
- , Carrock Sewell
- , Catherine Roughley
- , Catherine Titterton
- , Catherine Williamson
- , Charaka Hadinnapola
- , Charu Deshpande
- , Cheng-Hock Toh
- , Chiara Bacchelli
- , Chris Patch
- , Chris Van Geet
- , Christian Babbs
- , Christine Bryson
- , Christopher J. Penkett
- , Christopher J. Rhodes
- , Christopher Watt
- , Claire Bethune
- , Claire Booth
- , Claire Lentaigne
- , Coleen McJannet
- , Colin Church
- , Courtney French
- , Crina Samarghitean
- , Csaba Halmagyi
- , Daniel Gale
- , Daniel Greene
- , Daniel Hart
- , David Allsup
- , David Bennett
- , David Edgar
- , David G. Kiely
- , David Gosal
- , David J. Perry
- , David Keeling
- , David Montani
- , Debbie Shipley
- , Deborah Whitehorn
- , Debra Fletcher
- , Deepa Krishnakumar
- , Detelina Grozeva
- , Dinakantha Kumararatne
- , Dorothy Thompson
- , Dragana Josifova
- , Eamonn Maher
- , Edwin K. S. Wong
- , Elaine Murphy
- , Eleanor Dewhurst
- , Eleni Louka
- , Elisabeth Rosser
- , Elizabeth Chalmers
- , Elizabeth Colby
- , Elizabeth Drewe
- , Elizabeth McDermott
- , Ellen Thomas
- , Emily Staples
- , Emma Clement
- , Emma Matthews
- , Emma Wakeling
- , Eric Oksenhendler
- , Ernest Turro
- , Evan Reid
- , Evangeline Wassmer
- , F. Lucy Raymond
- , Fengyuan Hu
- , Fiona Kennedy
- , Florent Soubrier
- , Frances Flinter
- , Gabor Kovacs
- , Gary Polwarth
- , Gautum Ambegaonkar
- , Gavin Arno
- , Gavin Hudson
- , Geoff Woods
- , Gerry Coghlan
- , Grant Hayman
- , Gururaj Arumugakani
- , Gwen Schotte
- , H. Terry Cook
- , Hana Alachkar
- , Hana Lango Allen
- , Hana Lango-Allen
- , Hannah Stark
- , Hans Stauss
- , Harald Schulze
- , Harm J. Boggard
- , Helen Baxendale
- , Helen Dolling
- , Helen Firth
- , Henning Gall
- , Henry Watson
- , Hilary Longhurst
- , Hugh S. Markus
- , Hugh Watkins
- , Ilenia Simeoni
- , Ingrid Emmerson
- , Irene Roberts
- , Isabella Quinti
- , Ivy Wanjiku
- , J. Simon R. Gibbs
- , James Thaventhiran
- , James Whitworth
- , Jane Hurst
- , Janine Collins
- , Jay Suntharalingam
- , Jeanette Payne
- , Jecko Thachil
- , Jennifer M. Martin
- , Jennifer Martin
- , Jenny Carmichael
- , Jesmeen Maimaris
- , Joan Paterson
- , Joanna Pepke-Zaba
- , Johan W. M. Heemskerk
- , Johanna Gebhart
- , John Davis
- , John Pasi
- , John R. Bradley
- , John Wharton
- , Jonathan Stephens
- , Julia Rankin
- , Julie Anderson
- , Julie Vogt
- , Julie von Ziegenweldt
- , Karola Rehnstrom
- , Karyn Megy
- , Kate Talks
- , Kathelijne Peerlinck
- , Katherine Yates
- , Kathleen Freson
- , Kathleen Stirrups
- , Keith Gomez
- , Kenneth G. C. Smith
- , Keren Carss
- , Kevin Rue-Albrecht
- , Kimberley Gilmour
- , Larahmie Masati
- , Laura Scelsi
- , Laura Southgate
- , Lavanya Ranganathan
- , Lionel Ginsberg
- , Lisa Devlin
- , Lisa Willcocks
- , Liz Ormondroyd
- , Lorena Lorenzo
- , Lorraine Harper
- , Louise Allen
- , Louise Daugherty
- , Manali Chitre
- , Manju Kurian
- , Marc Humbert
- , Marc Tischkowitz
- , Maria Bitner-Glindzicz
- , Marie Erwood
- , Marie Scully
- , Marijke Veltman
- , Mark Caulfield
- , Mark Layton
- , Mark McCarthy
- , Mark Ponsford
- , Mark Toshner
- , Marta Bleda
- , Martin Wilkins
- , Mary Mathias
- , Mary Reilly
- , Maryam Afzal
- , Matthew Brown
- , Matthew Rondina
- , Matthew Stubbs
- , Matthias Haimel
- , Melissa Lees
- , Michael A. Laffan
- , Michael Browning
- , Michael Gattens
- , Michael Richards
- , Michel Michaelides
- , Michele P. Lambert
- , Mike Makris
- , Minka De Vries
- , Mohamed Mahdi-Rogers
- , Moin Saleem
- , Moira Thomas
- , Muriel Holder
- , Mélanie Eyries
- , Naomi Clements-Brod
- , Natalie Canham
- , Natalie Dormand
- , Natalie Van Zuydam
- , Nathalie Kingston
- , Neeti Ghali
- , Nichola Cooper
- , Nicholas W. Morrell
- , Nigel Yeatman
- , Noémi Roy
- , Olga Shamardina
- , Omid S. Alavijeh
- , Paolo Gresele
- , Paquita Nurden
- , Patrick Chinnery
- , Patrick Deegan
- , Patrick Yong
- , Patrick Yu-Wai-Man
- , Paul A. Corris
- , Paul Calleja
- , Paul Gissen
- , Paula Bolton-Maggs
- , Paula Rayner-Matthews
- , Pavandeep K. Ghataorhe
- , Pavel Gordins
- , Penelope Stein
- , Peter Collins
- , Peter Dixon
- , Peter Kelleher
- , Phil Ancliff
- , Ping Yu
- , R. Campbell Tait
- , Rachel Linger
- , Rainer Doffinger
- , Rajiv Machado
- , Rashid Kazmi
- , Ravishankar Sargur
- , Remi Favier
- , Rhea Tan
- , Ri Liesner
- , Richard Antrobus
- , Richard Sandford
- , Richard Scott
- , Richard Trembath
- , Rita Horvath
- , Rob Hadden
- , Rob V. MackenzieRoss
- , Robert Henderson
- , Robert MacLaren
- , Roger James
- , Rohit Ghurye
- , Rosa DaCosta
- , Rosie Hague
- , Rutendo Mapeta
- , Ruth Armstrong
- , Sadia Noorani
- , Sai Murng
- , Saikat Santra
- , Salih Tuna
- , Sally Johnson
- , Sam Chong
- , Sara Lear
- , Sara Walker
- , Sarah Goddard
- , Sarah Mangles
- , Sarah Westbury
- , Sarju Mehta
- , Scott Hackett
- , Sergey Nejentsev
- , Shahin Moledina
- , Shahnaz Bibi
- , Sharon Meehan
- , Shokri Othman
- , Shoshana Revel-Vilk
- , Simon Holden
- , Simon McGowan
- , Simon Staines
- , Sinisa Savic
- , Siobhan Burns
- , Sofia Grigoriadou
- , Sofia Papadia
- , Sofie Ashford
- , Sol Schulman
- , Sonia Ali
- , Soo-Mi Park
- , Sophie Davies
- , Sophie Stock
- , Souad Ali
- , Sri V. V. Deevi
- , Stefan Gräf
- , Stefano Ghio
- , Stephen J. Wort
- , Stephen Jolles
- , Steve Austin
- , Steve Welch
- , Stuart Meacham
- , Stuart Rankin
- , Suellen Walker
- , Suranjith Seneviratne
- , Susan Holder
- , Suthesh Sivapalaratnam
- , Sylvia Richardson
- , Taco Kuijpers
- , Taco W. Kuijpers
- , Tadbir K. Bariana
- , Tamam Bakchoul
- , Tamara Everington
- , Tara Renton
- , Tim Young
- , Timothy Aitman
- , Timothy Q. Warner
- , Tom Vale
- , Tracey Hammerton
- , Val Pollock
- , Vera Matser
- , Victoria Cookson
- , Virginia Clowes
- , Waseem Qasim
- , Wei Wei
- , Wendy N. Erber
- , Willem H. Ouwehand
- , William Astle
- , William Egner
- , Wojciech Turek
- , Yvonne Henskens
- , Yvonne Tan
- & Andy G. Lynch
-
Research | | Open
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity
- Audrey E. Hendricks
- , Elena G. Bochukova
- , Gaëlle Marenne
- , Julia M. Keogh
- , Neli Atanassova
- , Rebecca Bounds
- , Eleanor Wheeler
- , Vanisha Mistry
- , Elana Henning
- , Antje Körner
- , Dawn Muddyman
- , Shane McCarthy
- , Anke Hinney
- , Johannes Hebebrand
- , Robert A. Scott
- , Claudia Langenberg
- , Nick J. Wareham
- , Praveen Surendran
- , Joanna M. Howson
- , Adam S. Butterworth
- , John Danesh
- , Børge G Nordestgaard
- , Sune F Nielsen
- , Shoaib Afzal
- , Sofia Papadia
- , Sofie Ashford
- , Sumedha Garg
- , Glenn L. Millhauser
- , Rafael I. Palomino
- , Alexandra Kwasniewska
- , Ioanna Tachmazidou
- , Stephen O’Rahilly
- , Eleftheria Zeggini
- , Inês Barroso
- , I. Sadaf Farooqi
- , Michaela Benzeval
- , Jonathan Burton
- , Nicholas Buck
- , Annette Jäckle
- , Meena Kumari
- , Heather Laurie
- , Peter Lynn
- , Stephen Pudney
- , Birgitta Rabe
- , Dieter Wolke
- , Kim Overvad
- , Anne Tjønneland
- , Francoise Clavel-Chapelon
- , Rudolf Kaaks
- , Heiner Boeing
- , Antonia Trichopoulou
- , Pietro Ferrari
- , Domenico Palli
- , Vittorio Krogha
- , Salvatore Panico
- , Rosario Tuminoa
- , Giuseppe Matullo
- , Jolanda Boer
- , Yvonne van. der. Schouw
- , Elisabete Weiderpass
- , J. Ramon Quiros
- , María-José Sánchez
- , Carmen Navarro
- , Conchi Moreno-Iribas
- , Larraitz Arriola
- , Olle Melander
- , Patrik Wennberg
- , Timothy J. Key
- , Elio Riboli
- , Saeed Al Turki
- , Carl A. Anderson
- , Richard Anney
- , Dinu Antony
- , María Soler Artigas
- , Muhammad Ayub
- , Senduran Bala
- , Jeffrey C. Barrett
- , Phil Beales
- , Jamie Bentham
- , Shoumo Bhattacharyaa
- , Ewan Birney
- , Douglas Blackwooda
- , Martin Bobrow
- , Patrick F. Bolton
- , Chris Boustred
- , Gerome Breen
- , Mattia Calissanoa
- , Keren Carss
- , Ruth Charlton
- , Krishna Chatterjee
- , Lu Chen
- , Antonio Ciampia
- , Sebahattin Cirak
- , Peter Clapham
- , Gail Clement
- , Guy Coates
- , Massimiliano Coccaa
- , David A. Collier
- , Catherine Cosgrove
- , Tony Coxa
- , Nick Craddock
- , Lucy Crooks
- , Sarah Curran
- , David Curtis
- , Allan Daly
- , Petr Danecek
- , Ian N. M. Day
- , Aaron Day-Williams
- , Anna Dominiczak
- , Thomas Down
- , Yuanping Du
- , Ian Dunham
- , Richard Durbin
- , Sarah Edkins
- , Rosemary Ekong
- , Peter Ellis
- , David M. Evansa
- , David R. Fitzpatrick
- , Paul Flicek
- , James Floyd
- , A. Reghan Foley
- , Christopher S. Franklin
- , Marta Futema
- , Louise Gallagher
- , Tom R. Gaunt
- , Matthias Geihs
- , Daniel Geschwind
- , Celia M. T. Greenwood
- , Heather Griffin
- , Detelina Grozeva
- , Xiaosen Guo
- , Xueqin Guo
- , Hugh Gurling
- , Deborah Hart
- , Peter Holmans
- , Bryan Howie
- , Jie Huang
- , Liren Huang
- , Tim Hubbard
- , Steve E. Humphries
- , Matthew E. Hurles
- , Pirro Hysi
- , Valentina Iotchkova
- , David K. Jackson
- , Yalda Jamshidi
- , Chris Joyce
- , Konrad J. Karczewski
- , Jane Kaye
- , Thomas Keane
- , John P. Kemp
- , Karen Kennedy
- , Alastair Kent
- , Farrah Khawaja
- , Margriet van Kogelenberg
- , Anja Kolb-Kokocinski
- , Genevieve Lachance
- , Cordelia Langford
- , Daniel Lawson
- , Irene Lee
- , Monkol Lek
- , Rui Li
- , Yingrui Li
- , Jieqin Liang
- , Hong Lin
- , Ryan Liu
- , Jouko Lönnqvist
- , Luis R. Lopes
- , Margarida Lopes
- , Daniel G. MacArthur
- , Massimo Mangino
- , Jonathan Marchini
- , John Maslen
- , Iain Mathieson
- , Peter McGuffin
- , Andrew M. McIntosh
- , Andrew G. McKechanie
- , Andrew McQuillin
- , Yasin Memari
- , Sarah Metrustry
- , Nicola Migone
- , Josine L. Min
- , Hannah M. Mitchison
- , Alireza Moayyeri
- , Andrew Morris
- , James Morris
- , Francesco Muntoni
- , Kate Northstone
- , Michael C. O’Donovan
- , Alexandros Onoufriadis
- , Karim Oualkacha
- , Michael J. Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy R. Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , Stewart J. Payne
- , John R. B. Perry
- , Olli Pietilainen
- , Vincent Plagnol
- , Rebecca C. Pollitt
- , David J. Porteous
- , Sue Povey
- , Michael A. Quail
- , Lydia Quaye
- , F. Lucy Raymond
- , Karola Rehnström
- , J. Brent Richards
- , Cheryl K. Ridout
- , Susan Ring
- , Graham R. S. Ritchie
- , Nicola Roberts
- , Rachel L. Robinson
- , David B. Savage
- , Peter Scambler
- , Stephan Schiffels
- , Miriam Schmidts
- , Nadia Schoenmakers
- , Richard H. Scott
- , Robert K. Semple
- , Eva Serra
- , Sally I. Sharp
- , Adam Shaw
- , Hashem A. Shihab
- , So-Youn Shin
- , David Skuse
- , Kerrin S. Small
- , Carol Smee
- , Blair H. Smith
- , George Davey Smith
- , Nicole Soranzo
- , Lorraine Southam
- , Olivera Spasic-Boskovic
- , Timothy D. Spector
- , David St Clair
- , Beate St Pourcain
- , Jim Stalker
- , Elizabeth Stevens
- , Jianping Sun
- , Gabriela Surdulescu
- , Jaana Suvisaari
- , Petros Syrris
- , Rohan Taylor
- , Jing Tian
- , Nicholas J. Timpson
- , Martin D. Tobin
- , Ana M. Valdes
- , Anthony M. Vandersteen
- , Parthiban Vijayarangakannan
- , Peter M. Visscher
- , Louise V. Wain
- , Klaudia Walter
- , James T. R. Walters
- , Guangbiao Wang
- , Jun Wang
- , Yu Wang
- , Kirsten Ward
- , Tamieka Whyte
- , Hywel J. Williams
- , Kathleen A. Williamson
- , Crispian Wilson
- , Scott G. Wilson
- , Kim Wong
- , ChangJiang Xu
- , Jian Yang
- , Feng Zhang
- , Pingbo Zhang
- & Hou-Feng Zheng
-
Research | | Open
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
- James H. R. Farmery
- , Mike L. Smith
- , Aarnoud Huissoon
- , Abigail Furnell
- , Adam Mead
- , Adam P. Levine
- , Adnan Manzur
- , Adrian Thrasher
- , Alan Greenhalgh
- , Alasdair Parker
- , Alba Sanchis-Juan
- , Alex Richter
- , Alice Gardham
- , Allan Lawrie
- , Aman Sohal
- , Amanda Creaser-Myers
- , Amy Frary
- , Andreas Greinacher
- , Andreas Themistocleous
- , Andrew J. Peacock
- , Andrew Marshall
- , Andrew Mumford
- , Andrew Rice
- , Andrew Webster
- , Angie Brady
- , Ania Koziell
- , Ania Manson
- , Anita Chandra
- , Anke Hensiek
- , Anna Huis in’t Veld
- , Anna Maw
- , Anne M. Kelly
- , Anthony Moore
- , Anton Vonk Noordegraaf
- , Antony Attwood
- , Archana Herwadkar
- , Ardi Ghofrani
- , Arjan C. Houweling
- , Barbara Girerd
- , Bruce Furie
- , Carmen M. Treacy
- , Carolyn M. Millar
- , Carrock Sewell
- , Catherine Roughley
- , Catherine Titterton
- , Catherine Williamson
- , Charaka Hadinnapola
- , Charu Deshpande
- , Cheng-Hock Toh
- , Chiara Bacchelli
- , Chris Patch
- , Chris Van Geet
- , Christian Babbs
- , Christine Bryson
- , Christopher J. Penkett
- , Christopher J. Rhodes
- , Christopher Watt
- , Claire Bethune
- , Claire Booth
- , Claire Lentaigne
- , Coleen McJannet
- , Colin Church
- , Courtney French
- , Crina Samarghitean
- , Csaba Halmagyi
- , Daniel Gale
- , Daniel Greene
- , Daniel Hart
- , David Allsup
- , David Bennett
- , David Edgar
- , David G. Kiely
- , David Gosal
- , David J. Perry
- , David Keeling
- , David Montani
- , Debbie Shipley
- , Deborah Whitehorn
- , Debra Fletcher
- , Deepa Krishnakumar
- , Detelina Grozeva
- , Dinakantha Kumararatne
- , Dorothy Thompson
- , Dragana Josifova
- , Eamonn Maher
- , Edwin K. S. Wong
- , Elaine Murphy
- , Eleanor Dewhurst
- , Eleni Louka
- , Elisabeth Rosser
- , Elizabeth Chalmers
- , Elizabeth Colby
- , Elizabeth Drewe
- , Elizabeth McDermott
- , Ellen Thomas
- , Emily Staples
- , Emma Clement
- , Emma Matthews
- , Emma Wakeling
- , Eric Oksenhendler
- , Ernest Turro
- , Evan Reid
- , Evangeline Wassmer
- , F. Lucy Raymond
- , Fengyuan Hu
- , Fiona Kennedy
- , Florent Soubrier
- , Frances Flinter
- , Gabor Kovacs
- , Gary Polwarth
- , Gautum Ambegaonkar
- , Gavin Arno
- , Gavin Hudson
- , Geoff Woods
- , Gerry Coghlan
- , Grant Hayman
- , Gururaj Arumugakani
- , Gwen Schotte
- , H. Terry Cook
- , Hana Alachkar
- , Hana Lango Allen
- , Hana Lango-Allen
- , Hannah Stark
- , Hans Stauss
- , Harald Schulze
- , Harm J. Boggard
- , Helen Baxendale
- , Helen Dolling
- , Helen Firth
- , Henning Gall
- , Henry Watson
- , Hilary Longhurst
- , Hugh S. Markus
- , Hugh Watkins
- , Ilenia Simeoni
- , Ingrid Emmerson
- , Irene Roberts
- , Isabella Quinti
- , Ivy Wanjiku
- , J. Simon R. Gibbs
- , James Thaventhiran
- , James Whitworth
- , Jane Hurst
- , Janine Collins
- , Jay Suntharalingam
- , Jeanette Payne
- , Jecko Thachil
- , Jennifer M. Martin
- , Jennifer Martin
- , Jenny Carmichael
- , Jesmeen Maimaris
- , Joan Paterson
- , Joanna Pepke-Zaba
- , Johan W. M. Heemskerk
- , Johanna Gebhart
- , John Davis
- , John Pasi
- , John R. Bradley
- , John Wharton
- , Jonathan Stephens
- , Julia Rankin
- , Julie Anderson
- , Julie Vogt
- , Julie von Ziegenweldt
- , Karola Rehnstrom
- , Karyn Megy
- , Kate Talks
- , Kathelijne Peerlinck
- , Katherine Yates
- , Kathleen Freson
- , Kathleen Stirrups
- , Keith Gomez
- , Kenneth G. C. Smith
- , Keren Carss
- , Kevin Rue-Albrecht
- , Kimberley Gilmour
- , Larahmie Masati
- , Laura Scelsi
- , Laura Southgate
- , Lavanya Ranganathan
- , Lionel Ginsberg
- , Lisa Devlin
- , Lisa Willcocks
- , Liz Ormondroyd
- , Lorena Lorenzo
- , Lorraine Harper
- , Louise Allen
- , Louise Daugherty
- , Manali Chitre
- , Manju Kurian
- , Marc Humbert
- , Marc Tischkowitz
- , Maria Bitner-Glindzicz
- , Marie Erwood
- , Marie Scully
- , Marijke Veltman
- , Mark Caulfield
- , Mark Layton
- , Mark McCarthy
- , Mark Ponsford
- , Mark Toshner
- , Marta Bleda
- , Martin Wilkins
- , Mary Mathias
- , Mary Reilly
- , Maryam Afzal
- , Matthew Brown
- , Matthew Rondina
- , Matthew Stubbs
- , Matthias Haimel
- , Melissa Lees
- , Michael A. Laffan
- , Michael Browning
- , Michael Gattens
- , Michael Richards
- , Michel Michaelides
- , Michele P. Lambert
- , Mike Makris
- , Minka De Vries
- , Mohamed Mahdi-Rogers
- , Moin Saleem
- , Moira Thomas
- , Muriel Holder
- , Mélanie Eyries
- , Naomi Clements-Brod
- , Natalie Canham
- , Natalie Dormand
- , Natalie Van Zuydam
- , Nathalie Kingston
- , Neeti Ghali
- , Nichola Cooper
- , Nicholas W. Morrell
- , Nigel Yeatman
- , Noémi Roy
- , Olga Shamardina
- , Omid S. Alavijeh
- , Paolo Gresele
- , Paquita Nurden
- , Patrick Chinnery
- , Patrick Deegan
- , Patrick Yong
- , Patrick Yu-Wai-Man
- , Paul A. Corris
- , Paul Calleja
- , Paul Gissen
- , Paula Bolton-Maggs
- , Paula Rayner-Matthews
- , Pavandeep K. Ghataorhe
- , Pavel Gordins
- , Penelope Stein
- , Peter Collins
- , Peter Dixon
- , Peter Kelleher
- , Phil Ancliff
- , Ping Yu
- , R. Campbell Tait
- , Rachel Linger
- , Rainer Doffinger
- , Rajiv Machado
- , Rashid Kazmi
- , Ravishankar Sargur
- , Remi Favier
- , Rhea Tan
- , Ri Liesner
- , Richard Antrobus
- , Richard Sandford
- , Richard Scott
- , Richard Trembath
- , Rita Horvath
- , Rob Hadden
- , Rob V. MackenzieRoss
- , Robert Henderson
- , Robert MacLaren
- , Roger James
- , Rohit Ghurye
- , Rosa DaCosta
- , Rosie Hague
- , Rutendo Mapeta
- , Ruth Armstrong
- , Sadia Noorani
- , Sai Murng
- , Saikat Santra
- , Salih Tuna
- , Sally Johnson
- , Sam Chong
- , Sara Lear
- , Sara Walker
- , Sarah Goddard
- , Sarah Mangles
- , Sarah Westbury
- , Sarju Mehta
- , Scott Hackett
- , Sergey Nejentsev
- , Shahin Moledina
- , Shahnaz Bibi
- , Sharon Meehan
- , Shokri Othman
- , Shoshana Revel-Vilk
- , Simon Holden
- , Simon McGowan
- , Simon Staines
- , Sinisa Savic
- , Siobhan Burns
- , Sofia Grigoriadou
- , Sofia Papadia
- , Sofie Ashford
- , Sol Schulman
- , Sonia Ali
- , Soo-Mi Park
- , Sophie Davies
- , Sophie Stock
- , Souad Ali
- , Sri V. V. Deevi
- , Stefan Gräf
- , Stefano Ghio
- , Stephen J. Wort
- , Stephen Jolles
- , Steve Austin
- , Steve Welch
- , Stuart Meacham
- , Stuart Rankin
- , Suellen Walker
- , Suranjith Seneviratne
- , Susan Holder
- , Suthesh Sivapalaratnam
- , Sylvia Richardson
- , Taco Kuijpers
- , Taco W. Kuijpers
- , Tadbir K. Bariana
- , Tamam Bakchoul
- , Tamara Everington
- , Tara Renton
- , Tim Young
- , Timothy Aitman
- , Timothy Q. Warner
- , Tom Vale
- , Tracey Hammerton
- , Val Pollock
- , Vera Matser
- , Victoria Cookson
- , Virginia Clowes
- , Waseem Qasim
- , Wei Wei
- , Wendy N. Erber
- , Willem H. Ouwehand
- , William Astle
- , William Egner
- , Wojciech Turek
- , Yvonne Henskens
- , Yvonne Tan
- & Andy G. Lynch
-
Research | | Open
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
- Chiara Olcese
- , Mitali P. Patel
- , Amelia Shoemark
- , Santeri Kiviluoto
- , Marie Legendre
- , Hywel J. Williams
- , Cara K. Vaughan
- , Jane Hayward
- , Alice Goldenberg
- , Richard D. Emes
- , Mustafa M. Munye
- , Laura Dyer
- , Thomas Cahill
- , Jeremy Bevillard
- , Corinne Gehrig
- , Michel Guipponi
- , Sandra Chantot
- , Philippe Duquesnoy
- , Lucie Thomas
- , Ludovic Jeanson
- , Bruno Copin
- , Aline Tamalet
- , Christel Thauvin-Robinet
- , Jean- François Papon
- , Antoine Garin
- , Isabelle Pin
- , Gabriella Vera
- , Paul Aurora
- , Mahmoud R. Fassad
- , Lucy Jenkins
- , Christopher Boustred
- , Thomas Cullup
- , Mellisa Dixon
- , Alexandros Onoufriadis
- , Andrew Bush
- , Eddie M. K. Chung
- , Stylianos E. Antonarakis
- , Michael R. Loebinger
- , Robert Wilson
- , Miguel Armengot
- , Estelle Escudier
- , Claire Hogg
- , Saeed Al-Turki
- , Carl Anderson
- , Dinu Antony
- , Inês Barroso
- , Philip L. Beales
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Keren Carss
- , Krishna Chatterjee
- , Sebahattin Cirak
- , Catherine Cosgrove
- , Daly Allan
- , Richard Durbin
- , David Fitzpatrick
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Steve E. Humphries
- , Matt Hurles
- , Shane McCarthy
- , Dawn Muddyman
- , Francesco Muntoni
- , Victoria Parker
- , Felicity Payne
- , Vincent Plagnol
- , Lucy Raymond
- , David B. Savage
- , Peter J. Scambler
- , Miriam Schmidts
- , Robert Semple
- , Eva Serra
- , Jim Stalker
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Klaudia Walter
- , Serge Amselem
- , Zhaoxia Sun
- , Lucia Bartoloni
- , Jean-Louis Blouin
- & Hannah M. Mitchison
-
Research | | Open
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
- Karsten Boldt
- , Jeroen van Reeuwijk
- , Qianhao Lu
- , Konstantinos Koutroumpas
- , Thanh-Minh T. Nguyen
- , Yves Texier
- , Sylvia E. C. van Beersum
- , Nicola Horn
- , Jason R. Willer
- , Dorus A. Mans
- , Gerard Dougherty
- , Ideke J. C. Lamers
- , Karlien L. M. Coene
- , Heleen H. Arts
- , Matthew J. Betts
- , Tina Beyer
- , Emine Bolat
- , Christian Johannes Gloeckner
- , Khatera Haidari
- , Lisette Hetterschijt
- , Daniela Iaconis
- , Dagan Jenkins
- , Franziska Klose
- , Barbara Knapp
- , Brooke Latour
- , Stef J. F. Letteboer
- , Carlo L. Marcelis
- , Dragana Mitic
- , Manuela Morleo
- , Machteld M. Oud
- , Moniek Riemersma
- , Susan Rix
- , Paulien A. Terhal
- , Grischa Toedt
- , Teunis J. P. van Dam
- , Erik de Vrieze
- , Yasmin Wissinger
- , Ka Man Wu
- , Gordana Apic
- , Philip L. Beales
- , Oliver E. Blacque
- , Toby J. Gibson
- , Martijn A. Huynen
- , Nicholas Katsanis
- , Hannie Kremer
- , Heymut Omran
- , Erwin van Wijk
- , Uwe Wolfrum
- , François Kepes
- , Erica E. Davis
- , Brunella Franco
- , Rachel H. Giles
- , Marius Ueffing
- , Robert B. Russell
- , Ronald Roepman
- , Saeed Al-Turki
- , Carl Anderson
- , Dinu Antony
- , Inês Barroso
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Keren Carss
- , Krishna Chatterjee
- , Sebahattin Cirak
- , Catherine Cosgrove
- , Petr Danecek
- , Richard Durbin
- , David Fitzpatrick
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Steve E. Humphries
- , Matt Hurles
- , Chris Joyce
- , Shane McCarthy
- , Hannah M. Mitchison
- , Dawn Muddyman
- , Francesco Muntoni
- , Stephen O'Rahilly
- , Alexandros Onoufriadis
- , Felicity Payne
- , Vincent Plagnol
- , Lucy Raymond
- , David B. Savage
- , Peter Scambler
- , Miriam Schmidts
- , Nadia Schoenmakers
- , Robert Semple
- , Eva Serra
- , Jim Stalker
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Klaudia Walter
- , Ros Whittall
- & Kathy Williamson
-
Research | | Open
The UK10K project identifies rare variants in health and disease
- Klaudia Walter
- , Josine L. Min
- , Jie Huang
- , Lucy Crooks
- , Yasin Memari
- , Shane McCarthy
- , John R. B. Perry
- , ChangJiang Xu
- , Marta Futema
- , Daniel Lawson
- , Valentina Iotchkova
- , Stephan Schiffels
- , Audrey E. Hendricks
- , Petr Danecek
- , Rui Li
- , James Floyd
- , Louise V. Wain
- , Inês Barroso
- , Steve E. Humphries
- , Matthew E. Hurles
- , Eleftheria Zeggini
- , Jeffrey C. Barrett
- , Vincent Plagnol
- , J. Brent Richards
- , Celia M. T. Greenwood
- , Nicholas J. Timpson
- , Richard Durbin
- , Nicole Soranzo
- , Senduran Bala
- , Peter Clapham
- , Guy Coates
- , Tony Cox
- , Allan Daly
- , Petr Danecek
- , Yuanping Du
- , Richard Durbin
- , Sarah Edkins
- , Peter Ellis
- , Paul Flicek
- , Xiaosen Guo
- , Xueqin Guo
- , Liren Huang
- , David K. Jackson
- , Chris Joyce
- , Thomas Keane
- , Anja Kolb-Kokocinski
- , Cordelia Langford
- , Yingrui Li
- , Jieqin Liang
- , Hong Lin
- , Ryan Liu
- , John Maslen
- , Shane McCarthy (co-chair)
- , Dawn Muddyman
- , Michael A. Quail
- , Jim Stalker (co-chair)
- , Jianping Sun
- , Jing Tian
- , Guangbiao Wang
- , Jun Wang
- , Yu Wang
- , Kim Wong
- , Pingbo Zhang
- , Inês Barroso
- , Ewan Birney
- , Chris Boustred
- , Lu Chen
- , Gail Clement
- , Massimiliano Cocca
- , Petr Danecek
- , George Davey Smith
- , Ian N. M. Day
- , Aaron Day-Williams
- , Thomas Down
- , Ian Dunham
- , Richard Durbin
- , David M. Evans
- , Tom R. Gaunt
- , Matthias Geihs
- , Celia M. T. Greenwood
- , Deborah Hart
- , Audrey E. Hendricks
- , Bryan Howie
- , Jie Huang
- , Tim Hubbard
- , Pirro Hysi
- , Valentina Iotchkova
- , Yalda Jamshidi
- , Konrad J. Karczewski
- , John P. Kemp
- , Genevieve Lachance
- , Daniel Lawson
- , Monkol Lek
- , Margarida Lopes
- , Daniel G. MacArthur
- , Jonathan Marchini
- , Massimo Mangino
- , Iain Mathieson
- , Shane McCarthy
- , Yasin Memari
- , Sarah Metrustry
- , Josine L. Min
- , Alireza Moayyeri
- , Dawn Muddyman
- , Kate Northstone
- , Kalliope Panoutsopoulou
- , Lavinia Paternoster
- , John R. B. Perry
- , Lydia Quaye
- , J. Brent Richards (co-chair)
- , Susan Ring
- , Graham R. S. Ritchie
- , Stephan Schiffels
- , Hashem A. Shihab
- , So-Youn Shin
- , Kerrin S. Small
- , María Soler Artigas
- , Nicole Soranzo (co-chair)
- , Lorraine Southam
- , Timothy D. Spector
- , Beate St Pourcain
- , Gabriela Surdulescu
- , Ioanna Tachmazidou
- , Nicholas J. Timpson (co-chair)
- , Martin D. Tobin
- , Ana M. Valdes
- , Peter M. Visscher
- , Louise V. Wain
- , Klaudia Walter
- , Kirsten Ward
- , Scott G. Wilson
- , Kim Wong
- , Jian Yang
- , Eleftheria Zeggini
- , Feng Zhang
- , Hou-Feng Zheng
- , Richard Anney
- , Muhammad Ayub
- , Jeffrey C. Barrett
- , Douglas Blackwood
- , Patrick F. Bolton
- , Gerome Breen
- , David A. Collier
- , Nick Craddock
- , Lucy Crooks
- , Sarah Curran
- , David Curtis
- , Richard Durbin
- , Louise Gallagher
- , Daniel Geschwind
- , Hugh Gurling
- , Peter Holmans
- , Irene Lee
- , Jouko Lönnqvist
- , Shane McCarthy
- , Peter McGuffin
- , Andrew M. McIntosh
- , Andrew G. McKechanie
- , Andrew McQuillin
- , James Morris
- , Dawn Muddyman
- , Michael C. O'Donovan
- , Michael J. Owen (co-chair)
- , Aarno Palotie (co-chair)
- , Jeremy R. Parr
- , Tiina Paunio
- , Olli Pietilainen
- , Karola Rehnström
- , Sally I. Sharp
- , David Skuse
- , David St Clair
- , Jaana Suvisaari
- , James T. R. Walters
- , Hywel J. Williams
- , Inês Barroso (co-chair)
- , Elena Bochukova
- , Rebecca Bounds
- , Anna Dominiczak
- , Richard Durbin
- , I. Sadaf Farooqi (co-chair)
- , Audrey E. Hendricks
- , Julia Keogh
- , Gaëlle Marenne
- , Shane McCarthy
- , Andrew Morris
- , Dawn Muddyman
- , Stephen O'Rahilly
- , David J. Porteous
- , Blair H. Smith
- , Ioanna Tachmazidou
- , Eleanor Wheeler
- , Eleftheria Zeggini
- , Saeed Al Turki
- , Carl A. Anderson
- , Dinu Antony
- , Inês Barroso
- , Phil Beales
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Mattia Calissano
- , Keren Carss
- , Krishna Chatterjee
- , Sebahattin Cirak
- , Catherine Cosgrove
- , Richard Durbin
- , David R. Fitzpatrick (co-chair)
- , James Floyd
- , A. Reghan Foley
- , Christopher S. Franklin
- , Marta Futema
- , Detelina Grozeva
- , Steve E. Humphries
- , Matthew E. Hurles (co-chair)
- , Shane McCarthy
- , Hannah M. Mitchison
- , Dawn Muddyman
- , Francesco Muntoni
- , Stephen O'Rahilly
- , Alexandros Onoufriadis
- , Victoria Parker
- , Felicity Payne
- , Vincent Plagnol
- , F. Lucy Raymond
- , Nicola Roberts
- , David B. Savage
- , Peter Scambler
- , Miriam Schmidts
- , Nadia Schoenmakers
- , Robert K. Semple
- , Eva Serra
- , Olivera Spasic-Boskovic
- , Elizabeth Stevens
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Klaudia Walter
- , Kathleen A. Williamson
- , Crispian Wilson
- , Tamieka Whyte
- , Antonio Ciampi
- , Celia M. T. Greenwood (co-chair)
- , Audrey E. Hendricks
- , Rui Li
- , Sarah Metrustry
- , Karim Oualkacha
- , Ioanna Tachmazidou
- , ChangJiang Xu
- , Eleftheria Zeggini (co-chair)
- , Martin Bobrow
- , Patrick F. Bolton
- , Richard Durbin
- , David R. Fitzpatrick
- , Heather Griffin
- , Matthew E. Hurles (co-chair)
- , Jane Kaye (co-chair)
- , Karen Kennedy
- , Alastair Kent
- , Dawn Muddyman
- , Francesco Muntoni
- , F. Lucy Raymond
- , Robert K. Semple
- , Carol Smee
- , Timothy D. Spector
- , Nicholas J. Timpson
- , Ruth Charlton
- , Rosemary Ekong
- , Marta Futema
- , Steve E. Humphries
- , Farrah Khawaja
- , Luis R. Lopes
- , Nicola Migone
- , Stewart J. Payne
- , Vincent Plagnol (chair)
- , Rebecca C. Pollitt
- , Sue Povey
- , Cheryl K. Ridout
- , Rachel L. Robinson
- , Richard H. Scott
- , Adam Shaw
- , Petros Syrris
- , Rohan Taylor
- , Anthony M. Vandersteen
- , Jeffrey C. Barrett
- , Inês Barroso
- , George Davey Smith
- , Richard Durbin (chair)
- , I. Sadaf Farooqi
- , David R. Fitzpatrick
- , Matthew E. Hurles
- , Jane Kaye
- , Karen Kennedy
- , Cordelia Langford
- , Shane McCarthy
- , Dawn Muddyman
- , Michael J. Owen
- , Aarno Palotie
- , J. Brent Richards
- , Nicole Soranzo
- , Timothy D. Spector
- , Jim Stalker
- , Nicholas J. Timpson
- , Eleftheria Zeggini
- , Antoinette Amuzu
- , Juan Pablo Casas
- , John C. Chambers
- , Massimiliano Cocca
- , George Dedoussis
- , Giovanni Gambaro
- , Paolo Gasparini
- , Tom R. Gaunt
- , Jie Huang
- , Valentina Iotchkova
- , Aaron Isaacs
- , Jon Johnson
- , Marcus E. Kleber
- , Jaspal S. Kooner
- , Claudia Langenberg
- , Jian'an Luan
- , Giovanni Malerba
- , Winfried März
- , Angela Matchan
- , Josine L. Min
- , Richard Morris
- , Børge G. Nordestgaard
- , Marianne Benn
- , Susan Ring
- , Robert A. Scott
- , Nicole Soranzo
- , Lorraine Southam
- , Nicholas J. Timpson
- , Daniela Toniolo
- , Michela Traglia
- , Anne Tybjaerg-Hansen
- , Cornelia M. van Duijn
- , Elisabeth M. van Leeuwen
- , Anette Varbo
- , Peter Whincup
- , Gianluigi Zaza
- , Eleftheria Zeggini
- & Weihua Zhang
-
Research | | Open
Whole-genome sequence-based analysis of thyroid function
- Peter N. Taylor
- , Eleonora Porcu
- , Shelby Chew
- , Purdey J. Campbell
- , Michela Traglia
- , Suzanne J. Brown
- , Benjamin H. Mullin
- , Hashem A. Shihab
- , Josine Min
- , Klaudia Walter
- , Yasin Memari
- , Jie Huang
- , Michael R. Barnes
- , John P. Beilby
- , Pimphen Charoen
- , Petr Danecek
- , Frank Dudbridge
- , Vincenzo Forgetta
- , Celia Greenwood
- , Elin Grundberg
- , Andrew D. Johnson
- , Jennie Hui
- , Ee M. Lim
- , Shane McCarthy
- , Dawn Muddyman
- , Vijay Panicker
- , John R.B. Perry
- , Jordana T. Bell
- , Wei Yuan
- , Caroline Relton
- , Tom Gaunt
- , David Schlessinger
- , Goncalo Abecasis
- , Francesco Cucca
- , Gabriela L. Surdulescu
- , Wolfram Woltersdorf
- , Eleftheria Zeggini
- , Hou-Feng Zheng
- , Daniela Toniolo
- , Colin M. Dayan
- , Silvia Naitza
- , John P. Walsh
- , Tim Spector
- , George Davey Smith
- , Richard Durbin
- , J. Brent Richards
- , Serena Sanna
- , Nicole Soranzo
- , Nicholas J. Timpson
- , Scott G. Wilson
- , Saeed Al Turki
- , Carl Anderson
- , Richard Anney
- , Dinu Antony
- , Maria Soler Artigas
- , Muhammad Ayub
- , Senduran Balasubramaniam
- , Jeffrey C. Barrett
- , Inês Barroso
- , Phil Beales
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Ewan Birney
- , Douglas Blackwood
- , Martin Bobrow
- , Elena Bochukova
- , Patrick Bolton
- , Rebecca Bounds
- , Chris Boustred
- , Gerome Breen
- , Mattia Calissano
- , Keren Carss
- , Krishna Chatterjee
- , Lu Chen
- , Antonio Ciampi
- , Sebhattin Cirak
- , Peter Clapham
- , Gail Clement
- , Guy Coates
- , David Collier
- , Catherine Cosgrove
- , Tony Cox
- , Nick Craddock
- , Lucy Crooks
- , Sarah Curran
- , David Curtis
- , Allan Daly
- , Aaron Day-Williams
- , Ian N.M. Day
- , Thomas Down
- , Yuanping Du
- , Ian Dunham
- , Sarah Edkins
- , Peter Ellis
- , David Evans
- , Sadaf Faroogi
- , Ghazaleh Fatemifar
- , David R. Fitzpatrick
- , Paul Flicek
- , James Flyod
- , A. Reghan Foley
- , Christopher S. Franklin
- , Marta Futema
- , Louise Gallagher
- , Matthias Geihs
- , Daniel Geschwind
- , Heather Griffin
- , Detelina Grozeva
- , Xueqin Guo
- , Xiaosen Guo
- , Hugh Gurling
- , Deborah Hart
- , Audrey Hendricks
- , Peter Holmans
- , Bryan Howie
- , Liren Huang
- , Tim Hubbard
- , Steve E. Humphries
- , Matthew E. Hurles
- , Pirro Hysi
- , David K. Jackson
- , Yalda Jamshidi
- , Tian Jing
- , Chris Joyce
- , Jane Kaye
- , Thomas Keane
- , Julia Keogh
- , John Kemp
- , Karen Kennedy
- , Anja Kolb-Kokocinski
- , Genevieve Lachance
- , Cordelia Langford
- , Daniel Lawson
- , Irene Lee
- , Monkol Lek
- , Jieqin Liang
- , Hong Lin
- , Rui Li
- , Yingrui Li
- , Ryan Liu
- , Jouko Lönnqvist
- , Margarida Lopes
- , Valentina Iotchkova
- , Daniel MacArthur
- , Jonathan Marchini
- , John Maslen
- , Mangino Massimo
- , Iain Mathieson
- , Gaëlle Marenne
- , Peter McGuffin
- , Andrew McIntosh
- , Andrew G. McKechanie
- , Andrew McQuillin
- , Sarah Metrustry
- , Hannah Mitchison
- , Alireza Moayyeri
- , James Morris
- , Francesco Muntoni
- , Kate Northstone
- , Michael O'Donnovan
- , Alexandros Onoufriadis
- , Stephen O'Rahilly
- , Karim Oualkacha
- , Michael J. Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy R. Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , Olli Pietilainen
- , Vincent Plagnol
- , Lydia Quaye
- , Michael A. Quail
- , Lucy Raymond
- , Karola Rehnström
- , Susan Ring
- , Graham R.S. Ritchie
- , Nicola Roberts
- , David B. Savage
- , Peter Scambler
- , Stephen Schiffels
- , Miriam Schmidts
- , Nadia Schoenmakers
- , Robert K. Semple
- , Eva Serra
- , Sally I. Sharp
- , So-Youn Shin
- , David Skuse
- , Kerrin Small
- , Lorraine Southam
- , Olivera Spasic-Boskovic
- , David St Clair
- , Jim Stalker
- , Elizabeth Stevens
- , Beate St Pourcian
- , Jianping Sun
- , Jaana Suvisaari
- , Ionna Tachmazidou
- , Martin D. Tobin
- , Ana Valdes
- , Margriet Van Kogelenberg
- , Parthiban Vijayarangakannan
- , Peter M. Visscher
- , Louise V. Wain
- , James T.R. Walters
- , Guangbiao Wang
- , Jun Wang
- , Yu Wang
- , Kirsten Ward
- , Elanor Wheeler
- , Tamieka Whyte
- , Hywel Williams
- , Kathleen A. Williamson
- , Crispian Wilson
- , Kim Wong
- , ChangJiang Xu
- , Jian Yang
- , Fend Zhang
- & Pingbo Zhang
-
Research | | Open
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
- Jie Huang
- , Bryan Howie
- , Shane McCarthy
- , Yasin Memari
- , Klaudia Walter
- , Josine L. Min
- , Petr Danecek
- , Giovanni Malerba
- , Elisabetta Trabetti
- , Hou-Feng Zheng
- , Saeed Al Turki
- , Antoinette Amuzu
- , Carl A. Anderson
- , Richard Anney
- , Dinu Antony
- , María Soler Artigas
- , Muhammad Ayub
- , Senduran Bala
- , Jeffrey C. Barrett
- , Inês Barroso
- , Phil Beales
- , Marianne Benn
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Ewan Birney
- , Douglas Blackwood
- , Martin Bobrow
- , Elena Bochukova
- , Patrick F. Bolton
- , Rebecca Bounds
- , Chris Boustred
- , Gerome Breen
- , Mattia Calissano
- , Keren Carss
- , Juan Pablo Casas
- , John C. Chambers
- , Ruth Charlton
- , Krishna Chatterjee
- , Lu Chen
- , Antonio Ciampi
- , Sebahattin Cirak
- , Peter Clapham
- , Gail Clement
- , Guy Coates
- , Massimiliano Cocca
- , David A. Collier
- , Catherine Cosgrove
- , Tony Cox
- , Nick Craddock
- , Lucy Crooks
- , Sarah Curran
- , David Curtis
- , Allan Daly
- , Ian N. M. Day
- , Aaron Day-Williams
- , George Dedoussis
- , Thomas Down
- , Yuanping Du
- , Cornelia M. van Duijn
- , Ian Dunham
- , Sarah Edkins
- , Rosemary Ekong
- , Peter Ellis
- , David M. Evans
- , I. Sadaf Farooqi
- , David R. Fitzpatrick
- , Paul Flicek
- , James Floyd
- , A. Reghan Foley
- , Christopher S. Franklin
- , Marta Futema
- , Louise Gallagher
- , Paolo Gasparini
- , Tom R. Gaunt
- , Matthias Geihs
- , Daniel Geschwind
- , Celia Greenwood
- , Heather Griffin
- , Detelina Grozeva
- , Xiaosen Guo
- , Xueqin Guo
- , Hugh Gurling
- , Deborah Hart
- , Audrey E. Hendricks
- , Peter Holmans
- , Liren Huang
- , Tim Hubbard
- , Steve E. Humphries
- , Matthew E. Hurles
- , Pirro Hysi
- , Valentina Iotchkova
- , Aaron Isaacs
- , David K. Jackson
- , Yalda Jamshidi
- , Jon Johnson
- , Chris Joyce
- , Konrad J. Karczewski
- , Jane Kaye
- , Thomas Keane
- , John P. Kemp
- , Karen Kennedy
- , Alastair Kent
- , Julia Keogh
- , Farrah Khawaja
- , Marcus E. Kleber
- , Margriet van Kogelenberg
- , Anja Kolb-Kokocinski
- , Jaspal S. Kooner
- , Genevieve Lachance
- , Claudia Langenberg
- , Cordelia Langford
- , Daniel Lawson
- , Irene Lee
- , Elisabeth M. van Leeuwen
- , Monkol Lek
- , Rui Li
- , Yingrui Li
- , Jieqin Liang
- , Hong Lin
- , Ryan Liu
- , Jouko Lönnqvist
- , Luis R. Lopes
- , Margarida Lopes
- , Jian'an Luan
- , Daniel G. MacArthur
- , Massimo Mangino
- , Gaëlle Marenne
- , Winfried März
- , John Maslen
- , Angela Matchan
- , Iain Mathieson
- , Peter McGuffin
- , Andrew M. McIntosh
- , Andrew G. McKechanie
- , Andrew McQuillin
- , Sarah Metrustry
- , Nicola Migone
- , Hannah M. Mitchison
- , Alireza Moayyeri
- , James Morris
- , Richard Morris
- , Dawn Muddyman
- , Francesco Muntoni
- , Børge G. Nordestgaard
- , Kate Northstone
- , Michael C. O'Donovan
- , Stephen O'Rahilly
- , Alexandros Onoufriadis
- , Karim Oualkacha
- , Michael J. Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy R. Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , Stewart J. Payne
- , John R. B. Perry
- , Olli Pietilainen
- , Vincent Plagnol
- , Rebecca C. Pollitt
- , Sue Povey
- , Michael A. Quail
- , Lydia Quaye
- , Lucy Raymond
- , Karola Rehnström
- , Cheryl K. Ridout
- , Susan Ring
- , Graham R. S. Ritchie
- , Nicola Roberts
- , Rachel L. Robinson
- , David B. Savage
- , Peter Scambler
- , Stephan Schiffels
- , Miriam Schmidts
- , Nadia Schoenmakers
- , Richard H. Scott
- , Robert A. Scott
- , Robert K. Semple
- , Eva Serra
- , Sally I. Sharp
- , Adam Shaw
- , Hashem A. Shihab
- , So-Youn Shin
- , David Skuse
- , Kerrin S. Small
- , Carol Smee
- , George Davey Smith
- , Lorraine Southam
- , Olivera Spasic-Boskovic
- , Timothy D. Spector
- , David St Clair
- , Beate St Pourcain
- , Jim Stalker
- , Elizabeth Stevens
- , Jianping Sun
- , Gabriela Surdulescu
- , Jaana Suvisaari
- , Petros Syrris
- , Ioanna Tachmazidou
- , Rohan Taylor
- , Jing Tian
- , Martin D. Tobin
- , Daniela Toniolo
- , Michela Traglia
- , Anne Tybjaerg-Hansen
- , Ana M. Valdes
- , Anthony M. Vandersteen
- , Anette Varbo
- , Parthiban Vijayarangakannan
- , Peter M. Visscher
- , Louise V. Wain
- , James T. R. Walters
- , Guangbiao Wang
- , Jun Wang
- , Yu Wang
- , Kirsten Ward
- , Eleanor Wheeler
- , Peter Whincup
- , Tamieka Whyte
- , Hywel J. Williams
- , Kathleen A. Williamson
- , Crispian Wilson
- , Scott G. Wilson
- , Kim Wong
- , ChangJiang Xu
- , Jian Yang
- , Gianluigi Zaza
- , Eleftheria Zeggini
- , Feng Zhang
- , Pingbo Zhang
- , Weihua Zhang
- , Giovanni Gambaro
- , J. Brent Richards
- , Richard Durbin
- , Nicholas J. Timpson
- , Jonathan Marchini
- & Nicole Soranzo
-
Research | | Open
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
- Nicholas J. Timpson
- , Klaudia Walter
- , Josine L. Min
- , Ioanna Tachmazidou
- , Giovanni Malerba
- , So-Youn Shin
- , Lu Chen
- , Marta Futema
- , Lorraine Southam
- , Valentina Iotchkova
- , Massimiliano Cocca
- , Jie Huang
- , Yasin Memari
- , Shane McCarthy
- , Petr Danecek
- , Dawn Muddyman
- , Massimo Mangino
- , Cristina Menni
- , John R. B. Perry
- , Susan M. Ring
- , Amadou Gaye
- , George Dedoussis
- , Aliki-Eleni Farmaki
- , Paul Burton
- , Philippa J. Talmud
- , Giovanni Gambaro
- , Tim D. Spector
- , George Davey Smith
- , Richard Durbin
- , J Brent Richards
- , Steve E. Humphries
- , Eleftheria Zeggini
- , Nicole Soranzo
- , Saeed Al Turki
- , Carl Anderson
- , Richard Anney
- , Dinu Antony
- , Maria Soler Artigas
- , Muhammad Ayub
- , Senduran Balasubramaniam
- , Jeffrey C. Barrett
- , Inês Barroso
- , Phil Beales
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Ewan Birney
- , Douglas Blackwood
- , Martin Bobrow
- , Elena Bochukova
- , Patrick Bolton
- , Rebecca Bounds
- , Chris Boustred
- , Gerome Breen
- , Mattia Calissano
- , Keren Carss
- , Krishna Chatterjee
- , Lu Chen
- , Antonio Ciampi
- , Sebhattin Cirak
- , Peter Clapham
- , Gail Clement
- , Guy Coates
- , David Collier
- , Catherine Cosgrove
- , Tony Cox
- , Nick Craddock
- , Lucy Crooks
- , Sarah Curran
- , David Curtis
- , Allan Daly
- , Petr Danecek
- , George Davey Smith
- , Aaron Day-Williams
- , Ian N. M. Day
- , Thomas Down
- , Yuanping Du
- , Ian Dunham
- , Richard Durbin
- , Sarah Edkins
- , Peter Ellis
- , David Evans
- , Sadaf Faroogi
- , Ghazaleh Fatemifar
- , David R. Fitzpatrick
- , Paul Flicek
- , James Flyod
- , A Reghan Foley
- , Christopher S Franklin
- , Marta Futema
- , Louise Gallagher
- , Tom Gaunt
- , Matthias Geihs
- , Daniel Geschwind
- , Celia Greenwood
- , Heather Griffin
- , Detelina Grozeva
- , Xueqin Guo
- , Xiaosen Guo
- , Hugh Gurling
- , Deborah Hart
- , Audrey Hendricks
- , Peter Holmans
- , Bryan Howie
- , Jie Huang
- , Liren Huang
- , Tim Hubbard
- , Steve E. Humphries
- , Matthew E. Hurles
- , Pirro Hysi
- , David K. Jackson
- , Yalda Jamshidi
- , Tian Jing
- , Chris Joyce
- , Jane Kaye
- , Thomas Keane
- , Julia Keogh
- , John Kemp
- , Karen Kennedy
- , Anja Kolb-Kokocinski
- , Genevieve Lachance
- , Cordelia Langford
- , Daniel Lawson
- , Irene Lee
- , Monkol Lek
- , Jieqin Liang
- , Hong Lin
- , Rui Li
- , Yingrui Li
- , Ryan Liu
- , Jouko Lönnqvist
- , Margarida Lopes
- , Valentina Lotchkova
- , Daniel MacArthur
- , Jonathan Marchini
- , John Maslen
- , Mangino Massimo
- , Iain Mathieson
- , Gaëlle Marenne
- , Shane McCarthy
- , Peter McGuffin
- , Andrew McIntosh
- , Andrew G. McKechanie
- , Andrew McQuillin
- , Yasin Memari
- , Sarah Metrustry
- , Josine Min
- , Hannah Mitchison
- , Alireza Moayyeri
- , James Morris
- , Dawn Muddyman
- , Francesco Muntoni
- , Kate Northstone
- , Michael O'Donnovan
- , Alexandros Onoufriadis
- , Stephen O'Rahilly
- , Karim Oualkacha
- , Michael J. Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy R. Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , John Perry
- , Olli Pietilainen
- , Vincent Plagnol
- , Lydia Quaye
- , Michael A. Quail
- , Lucy Raymond
- , Karola Rehnström
- , Brent Richards
- , Susan Ring
- , Graham R. S. Ritchie
- , Nicola Roberts
- , David B. Savage
- , Peter Scambler
- , Stephen Schiffels
- , Miriam Schmidts
- , Nadia Schoenmakers
- , Robert K. Semple
- , Eva Serra
- , Sally I. Sharp
- , Hasheem Shihab
- , So-Youn Shin
- , David Skuse
- , Kerrin Small
- , Nicole Soranzo
- , Lorraine Southam
- , Olivera Spasic-Boskovic
- , Tim Spector
- , David St Clair
- , Jim Stalker
- , Elizabeth Stevens
- , Beate St Pourcian
- , Jianping Sun
- , Gabriela Surdulescu
- , Jaana Suvisaari
- , Ionna Tachmazidou
- , Nicholas Timpson
- , Martin D. Tobin
- , Ana Valdes
- , Margriet Van Kogelenberg
- , Parthiban Vijayarangakannan
- , Peter M. Visscher
- , Louise V. Wain
- , Klaudia Walter
- , James T. R. Walters
- , Guangbiao Wang
- , Jun Wang
- , Yu Wang
- , Kirsten Ward
- , Elanor Wheeler
- , Tamieka Whyte
- , Hywel Williams
- , Kathleen A. Williamson
- , Crispian Wilson
- , Scott G. Wilson
- , Kim Wong
- , ChangJiang Xu
- , Jian Yang
- , Eleftheria Zeggini
- , Fend Zhang
- , Pingbo Zhang
- & Hou-Feng Zheng
-
Research | | Open
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
- Miriam Schmidts
- , Yuqing Hou
- , Claudio R. Cortés
- , Dorus A. Mans
- , Celine Huber
- , Karsten Boldt
- , Mitali Patel
- , Jeroen van Reeuwijk
- , Jean-Marc Plaza
- , Sylvia E. C. van Beersum
- , Zhi Min Yap
- , Stef J. F. Letteboer
- , S. Paige Taylor
- , Warren Herridge
- , Colin A. Johnson
- , Peter J. Scambler
- , Marius Ueffing
- , Hulya Kayserili
- , Deborah Krakow
- , Stephen M. King
- , Philip L. Beales
- , Lihadh Al-Gazali
- , Carol Wicking
- , Valerie Cormier-Daire
- , Ronald Roepman
- , Hannah M. Mitchison
- , George B. Witman
- , Saeed Al-Turki
- , Carl Anderson
- , Richard Anney
- , Dinu Antony
- , Jennifer Asimit
- , Mohammad Ayub
- , Jeff Barrett
- , Inês Barroso
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Douglas Blackwood
- , Martin Bobrow
- , Elena Bochukova
- , Patrick Bolton
- , Chris Boustred
- , Gerome Breen
- , Marie-Jo Brion
- , Andrew Brown
- , Mattia Calissano
- , Keren Carss
- , Krishna Chatterjee
- , Lu Chen
- , Sebhattin Cirak
- , Peter Clapham
- , Gail Clement
- , Guy Coates
- , David Collier
- , Catherine Cosgrove
- , Tony Cox
- , Nick Craddock
- , Lucy Crooks
- , Sarah Curran
- , Allan Daly
- , Petr Danecek
- , George Davey Smith
- , Aaron Day-Williams
- , Ian Day
- , Richard Durbin
- , Sarah Edkins
- , Peter Ellis
- , David Evans
- , I. Sadaf Farooqi
- , Ghazaleh Fatemifar
- , David Fitzpatrick
- , Paul Flicek
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Louise Gallagher
- , Tom Gaunt
- , Daniel Geschwind
- , Celia Greenwood
- , Detelina Grozeva
- , Xiaosen Guo
- , Hugh Gurling
- , Deborah Hart
- , Audrey Hendricks
- , Peter Holmans
- , Jie Huang
- , Steve E. Humphries
- , Matt Hurles
- , Pirro Hysi
- , David Jackson
- , Yalda Jamshidi
- , David Jewell
- , Joyce Chris
- , Jane Kaye
- , Thomas Keane
- , John Kemp
- , Karen Kennedy
- , Alastair Kent
- , Anja Kolb-Kokocinski
- , Genevieve Lachance
- , Cordelia Langford
- , Irene Lee
- , Rui Li
- , Yingrui Li
- , Liu Ryan
- , Jouko Lönnqvist
- , Margarida Lopes
- , Daniel G. MacArthur
- , Mangino Massimo
- , Jonathan Marchini
- , John Maslen
- , Shane McCarthy
- , Peter McGuffin
- , Andrew McIntosh
- , Andrew McKechanie
- , Andrew McQuillin
- , Yasin Memari
- , Sarah Metrustry
- , Josine Min
- , Alireza Moayyeri
- , James Morris
- , Dawn Muddyman
- , Francesco Muntoni
- , Kate Northstone
- , Michael O’Donovan
- , Stephen O’Rahilly
- , Alexandros Onoufriadis
- , Karim Oualkacha
- , Michael Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , John Perry
- , Olli Pietilainen
- , Vincent Plagnol
- , Michael A. Quail
- , Lydia Quaye
- , Lucy Raymond
- , Karola Rehnström
- , J. Brent Richards
- , Sue Ring
- , Graham R S Ritchie
- , David B. Savage
- , Nadia Schoenmakers
- , Robert K. Semple
- , Eva Serra
- , Hashem Shihab
- , So-Youn Shin
- , David Skuse
- , Kerrin Small
- , Carol Smee
- , Artigas María Soler
- , Nicole Soranzo
- , Lorraine Southam
- , Tim Spector
- , Beate St Pourcain
- , David St. Clair
- , Jim Stalker
- , Gabriela Surdulescu
- , Jaana Suvisaari
- , Ioanna Tachmazidou
- , Jing Tian
- , Nic Timpson
- , Martin Tobin
- , Ana Valdes
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Louise Wain
- , Klaudia Walter
- , Jun Wang
- , Kirsten Ward
- , Ellie Wheeler
- , Ros Whittall
- , Hywel Williams
- , Kathy Williamson
- , Scott G. Wilson
- , Kim Wong
- , Tamieka Whyte
- , Xu ChangJiang
- , Eleftheria Zeggini
- , Feng Zhang
- & Hou-Feng Zheng
