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Research |
Evidence for 28 genetic disorders discovered by combining healthcare and research data
- Joanna Kaplanis
- , Kaitlin E. Samocha
- , Laurens Wiel
- , Zhancheng Zhang
- , Kevin J. Arvai
- , Ruth Y. Eberhardt
- , Giuseppe Gallone
- , Stefan H. Lelieveld
- , Hilary C. Martin
- , Jeremy F. McRae
- , Patrick J. Short
- , Rebecca I. Torene
- , Elke de Boer
- , Petr Danecek
- , Eugene J. Gardner
- , Ni Huang
- , Jenny Lord
- , Iñigo Martincorena
- , Rolph Pfundt
- , Margot R. F. Reijnders
- , Alison Yeung
- , Helger G. Yntema
- , Silvia Borras
- , Caroline Clark
- , John Dean
- , Zosia Miedzybrodzka
- , Alison Ross
- , Stephen Tennant
- , Tabib Dabir
- , Deirdre Donnelly
- , Mervyn Humphreys
- , Alex Magee
- , Vivienne McConnell
- , Shane McKee
- , Susan McNerlan
- , Patrick J. Morrison
- , Gillian Rea
- , Fiona Stewart
- , Trevor Cole
- , Nicola Cooper
- , Lisa Cooper-Charles
- , Helen Cox
- , Lily Islam
- , Joanna Jarvis
- , Rebecca Keelagher
- , Derek Lim
- , Dominic McMullan
- , Jenny Morton
- , Swati Naik
- , Mary O’Driscoll
- , Kai-Ren Ong
- , Deborah Osio
- , Nicola Ragge
- , Sarah Turton
- , Julie Vogt
- , Denise Williams
- , Simon Bodek
- , Alan Donaldson
- , Alison Hills
- , Karen Low
- , Ruth Newbury-Ecob
- , Andrew M. Norman
- , Eileen Roberts
- , Ingrid Scurr
- , Sarah Smithson
- , Madeleine Tooley
- , Steve Abbs
- , Ruth Armstrong
- , Carolyn Dunn
- , Simon Holden
- , Soo-Mi Park
- , Joan Paterson
- , Lucy Raymond
- , Evan Reid
- , Richard Sandford
- , Ingrid Simonic
- , Marc Tischkowitz
- , Geoff Woods
- , Lisa Bradley
- , Joanne Comerford
- , Andrew Green
- , Sally Lynch
- , Shirley McQuaid
- , Brendan Mullaney
- , Jonathan Berg
- , David Goudie
- , Eleni Mavrak
- , Joanne McLean
- , Catherine McWilliam
- , Eleanor Reavey
- , Tara Azam
- , Elaine Cleary
- , Andrew Jackson
- , Wayne Lam
- , Anne Lampe
- , David Moore
- , Mary Porteous
- , Emma Baple
- , Júlia Baptista
- , Carole Brewer
- , Bruce Castle
- , Emma Kivuva
- , Martina Owens
- , Julia Rankin
- , Charles Shaw-Smith
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Therese Bradley
- , Rosemarie Davidson
- , Carol Gardiner
- , Shelagh Joss
- , Esther Kinning
- , Cheryl Longman
- , Ruth McGowan
- , Victoria Murday
- , Daniela Pilz
- , Edward Tobias
- , Margo Whiteford
- , Nicola Williams
- , Angela Barnicoat
- , Emma Clement
- , Francesca Faravelli
- , Jane Hurst
- , Lucy Jenkins
- , Wendy Jones
- , V. K. Ajith Kumar
- , Melissa Lees
- , Sam Loughlin
- , Alison Male
- , Deborah Morrogh
- , Elisabeth Rosser
- , Richard Scott
- , Louise Wilson
- , Ana Beleza
- , Charu Deshpande
- , Frances Flinter
- , Muriel Holder
- , Melita Irving
- , Louise Izatt
- , Dragana Josifova
- , Shehla Mohammed
- , Aneta Molenda
- , Leema Robert
- , Wendy Roworth
- , Deborah Ruddy
- , Mina Ryten
- , Shu Yau
- , Christopher Bennett
- , Moira Blyth
- , Jennifer Campbell
- , Andrea Coates
- , Angus Dobbie
- , Sarah Hewitt
- , Emma Hobson
- , Eilidh Jackson
- , Rosalyn Jewell
- , Alison Kraus
- , Katrina Prescott
- , Eamonn Sheridan
- , Jenny Thomson
- , Kirsty Bradshaw
- , Abhijit Dixit
- , Jacqueline Eason
- , Rebecca Haines
- , Rachel Harrison
- , Stacey Mutch
- , Ajoy Sarkar
- , Claire Searle
- , Nora Shannon
- , Abid Sharif
- , Mohnish Suri
- , Pradeep Vasudevan
- , Natalie Canham
- , Ian Ellis
- , Lynn Greenhalgh
- , Emma Howard
- , Victoria Stinton
- , Andrew Swale
- , Astrid Weber
- , Siddharth Banka
- , Catherine Breen
- , Tracy Briggs
- , Emma Burkitt-Wright
- , Kate Chandler
- , Jill Clayton-Smith
- , Dian Donnai
- , Sofia Douzgou
- , Lorraine Gaunt
- , Elizabeth Jones
- , Bronwyn Kerr
- , Claire Langley
- , Kay Metcalfe
- , Audrey Smith
- , Ronnie Wright
- , David Bourn
- , John Burn
- , Richard Fisher
- , Steve Hellens
- , Alex Henderson
- , Tara Montgomery
- , Miranda Splitt
- , Volker Straub
- , Michael Wright
- , Simon Zwolinski
- , Zoe Allen
- , Birgitta Bernhard
- , Angela Brady
- , Claire Brooks
- , Louise Busby
- , Virginia Clowes
- , Neeti Ghali
- , Susan Holder
- , Rita Ibitoye
- , Emma Wakeling
- , Edward Blair
- , Jenny Carmichael
- , Deirdre Cilliers
- , Susan Clasper
- , Richard Gibbons
- , Usha Kini
- , Tracy Lester
- , Andrea Nemeth
- , Joanna Poulton
- , Sue Price
- , Debbie Shears
- , Helen Stewart
- , Andrew Wilkie
- , Shadi Albaba
- , Duncan Baker
- , Meena Balasubramanian
- , Diana Johnson
- , Michael Parker
- , Oliver Quarrell
- , Alison Stewart
- , Josh Willoughby
- , Charlene Crosby
- , Frances Elmslie
- , Tessa Homfray
- , Huilin Jin
- , Nayana Lahiri
- , Sahar Mansour
- , Karen Marks
- , Meriel McEntagart
- , Anand Saggar
- , Kate Tatton-Brown
- , Rachel Butler
- , Angus Clarke
- , Sian Corrin
- , Andrew Fry
- , Arveen Kamath
- , Emma McCann
- , Hood Mugalaasi
- , Caroline Pottinger
- , Annie Procter
- , Julian Sampson
- , Francis Sansbury
- , Vinod Varghese
- , Diana Baralle
- , Alison Callaway
- , Emma J. Cassidy
- , Stacey Daniels
- , Andrew Douglas
- , Nicola Foulds
- , David Hunt
- , Mira Kharbanda
- , Katherine Lachlan
- , Catherine Mercer
- , Lucy Side
- , I. Karen Temple
- , Diana Wellesley
- , Lisenka E. L. M. Vissers
- , Jane Juusola
- , Caroline F. Wright
- , Han G. Brunner
- , Helen V. Firth
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , Christian Gilissen
- & Kyle Retterer
-
Amendments and Corrections |
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
- James E. D. Thaventhiran
- , Hana Lango Allen
- , Oliver S. Burren
- , William Rae
- , Daniel Greene
- , Emily Staples
- , Zinan Zhang
- , James H. R. Farmery
- , Ilenia Simeoni
- , Elizabeth Rivers
- , Jesmeen Maimaris
- , Christopher J. Penkett
- , Jonathan Stephens
- , Sri V. V. Deevi
- , Alba Sanchis-Juan
- , Nicholas S. Gleadall
- , Moira J. Thomas
- , Ravishankar B. Sargur
- , Pavels Gordins
- , Helen E. Baxendale
- , Matthew Brown
- , Paul Tuijnenburg
- , Austen Worth
- , Steven Hanson
- , Rachel J. Linger
- , Matthew S. Buckland
- , Paula J. Rayner-Matthews
- , Kimberly C. Gilmour
- , Crina Samarghitean
- , Suranjith L. Seneviratne
- , David M. Sansom
- , Andy G. Lynch
- , Karyn Megy
- , Eva Ellinghaus
- , David Ellinghaus
- , Silje F. Jorgensen
- , Tom H. Karlsen
- , Kathleen E. Stirrups
- , Antony J. Cutler
- , Dinakantha S. Kumararatne
- , Anita Chandra
- , J. David M. Edgar
- , Archana Herwadkar
- , Nichola Cooper
- , Sofia Grigoriadou
- , Aarnoud P. Huissoon
- , Sarah Goddard
- , Stephen Jolles
- , Catharina Schuetz
- , Felix Boschann
- , Stephen Abbs
- , Zoe Adhya
- , Julian Adlard
- , Maryam Afzal
- , Irshad Ahmed
- , Munaza Ahmed
- , Saeed Ahmed
- , Timothy J. Aitman
- , Hana Alachkar
- , Jayanthi Alamelu
- , Raza Alikhan
- , Carl E. Allen
- , Louise Allen
- , David J. Allsup
- , Arif Alvi
- , Gautam Ambegaonkar
- , Ariharan Anantharachagan
- , Philip Ancliff
- , Julie Anderson
- , Richard Antrobus
- , Ruth Armstrong
- , Gavin Arno
- , Gururaj Arumugakani
- , Rita Arya
- , Sofie Ashford
- , William J. Astle
- , Anthony Attwood
- , Steve Austin
- , Yesim Aydinok
- , Waqar Ayub
- , Christian Babbs
- , Chiara Bacchelli
- , Trevor Baglin
- , Tamam Bakchoul
- , Tadbir K. Bariana
- , Jonathan Barratt
- , Julian Barwell
- , John Baski
- , Rachel W. Bates
- , Joana Batista
- , Helen E. Baxendale
- , Gareth Baynam
- , David L. Bennett
- , Claire Bethune
- , Neha Bhatnagar
- , Shahnaz Bibi
- , Agnieszka Bierzynska
- , Tina Biss
- , Maria A. K. Bitner-Glindzicz
- , Marta Bleda
- , Iulia Blesneac
- , Barbara Boardman
- , Preetham Boddana
- , Harm J. Bogaard
- , Claire Booth
- , Sara Boyce
- , John R. Bradley
- , Angela Brady
- , Gerome Breen
- , Paul Brennan
- , Carole Brewer
- , Annette Briley
- , Matthew Brown
- , Richard Brown
- , Michael J. Browning
- , Mary Brownlie
- , Christine J. Bryson
- , Rachel J. Buchan
- , Jackie Buck
- , Matthew S. Buckland
- , Teofila Bueser
- , Carmen Bugarin Diz
- , Siobhan O. Burns
- , Oliver S. Burren
- , Paul Calleja
- , Jenny Carmichael
- , Gerald Carr-White
- , Keren J. Carss
- , Ruth Casey
- , Elizabeth Chalmers
- , Jenny Chambers
- , John Chambers
- , Melanie M. Y. Chan
- , Melissa V. Chan
- , Anita Chandra
- , Floria Cheng
- , Ivan K. Chinn
- , Patrick F. Chinnery
- , Manali Chitre
- , Sam Chong
- , Martin T. Christian
- , Colin Church
- , Emma M. Clement
- , Naomi Clements Brod
- , Hayley Clifford
- , Virginia E. Clowes
- , Gerry Coghlan
- , Elizabeth Colby
- , Trevor R. P. Cole
- , Janine H. Collins
- , Peter W. Collins
- , Robin Condliffe
- , H. Terence. Cook
- , Stuart Cook
- , Victoria Cookson
- , Nichola Cooper
- , Paul A. Corris
- , Amanda Creaser-Myers
- , Abigail Crisp-Hihn
- , Nicola S. Curry
- , Antony J. Cutler
- , Rosa Da Costa
- , Cesare Danesino
- , Matthew J. Daniels
- , Damaris Darby
- , Louise C. Daugherty
- , E. G. Davies
- , Sophie Davies
- , John Davis
- , Godelieve J. de Bree
- , Sarah Deacock
- , Patrick B. Deegan
- , Sri V. V. Deevi
- , John Dempster
- , Timothy Dent
- , Charu Deshpande
- , Lisa A. Devlin
- , Eleanor F. Dewhurst
- , Anand K. Dixit
- , Peter H. Dixon
- , Rainer Doffinger
- , Helen Dolling
- , Natalie Dormand
- , Kate Downes
- , Anna M. Drazyk
- , Elizabeth Drewe
- , Daniel Duarte
- , Tina Dutt
- , J. David M. Edgar
- , Karen E. Edwards
- , William Egner
- , Melanie N. Ekani
- , Tariq El-Shanawany
- , Shuayb Elkhalifa
- , Tony Elston
- , Ingrid Emmerson
- , Wendy N. Erber
- , Marie Erwood
- , Maria C. Estiu
- , Dafydd Gareth Evans
- , Gillian Evans
- , Tamara Everington
- , Mélanie Eyries
- , James H. R. Farmery
- , Remi Favier
- , Helen V. Firth
- , Maggie M. Fitzpatrick
- , Debra Fletcher
- , Frances A. Flinter
- , James C. Fox
- , Amy J. Frary
- , Courtney E. French
- , Kathleen Freson
- , Mattia Frontini
- , Bruce Furie
- , Daniel P. Gale
- , Henning J. Gall
- , Alice Gardham
- , H. Bobby Gaspar
- , Michael Gattens
- , Neeti Ghali
- , Pavandeep K. Ghataorhe
- , Stefano Ghio
- , Hossein-Ardeschir Ghofrani
- , Rohit Ghurye
- , J. Simon R. Gibbs
- , Rodney D. Gilbert
- , Kimberly C. Gilmour
- , Barbara Girerd
- , Joanna C. Girling
- , Paul Gissen
- , Nicholas S. Gleadall
- , Sarah Goddard
- , Pavels Gordins
- , Kathleen M. Gorman
- , David Gosal
- , Stefan Graf
- , Luigi Grassi
- , Daniel Greene
- , Alan J. Greenhalgh
- , Lynn Greenhalgh
- , Andreas Greinacher
- , Paolo Gresele
- , Philip G. Griffiths
- , Sian Griffiths
- , Sofia Grigoriadou
- , Detelina Grozeva
- , Scott J. Hackett
- , Robert D. M. Hadden
- , Charaka Hadinnapola
- , Rosie Hague
- , William M. Hague
- , Matthias Haimel
- , Matthew Hall
- , Csaba Halmagyi
- , Tracey Hammerton
- , Helen L. Hanson
- , Kirsty Harkness
- , Andrew R. Harper
- , Lorraine Harper
- , Claire Harris
- , Claire Harrison
- , Daniel Hart
- , Ahamad Hassan
- , Grant Hayman
- , Johan W. M. Heemskerk
- , Shivaram Hegde
- , Alex Henderson
- , Robert H. Henderson
- , Anke Hensiek
- , Yvonne M. C. Henskens
- , Archana Herwadkar
- , Joshua Hodgson
- , Jonathan Hoffman
- , Simon Holden
- , Muriel Holder
- , Rita Horvath
- , Henry Houlden
- , Arjan C. Houweling
- , Luke S. Howard
- , Fengyuan Hu
- , Gavin Hudson
- , Sean Hughes
- , Stephen Hughes
- , Anna E. Huis in ‘t Veld
- , Aarnoud P. Huissoon
- , Marc Humbert
- , Matthew E. Hurles
- , Jane A. Hurst
- , Val Irvine
- , Louise Izatt
- , Roger James
- , Praveen Jeevaratnam
- , Mark Johnson
- , Sally A. Johnson
- , Stephen Jolles
- , Jennifer D. Jolley
- , Bryony Jones
- , Julie Jones
- , Dragana Josifova
- , Neringa Jurkute
- , Yousuf M. Karim
- , Mahantesh A. Karoshi
- , Mary A. Kasanicki
- , Hanadi Kazkaz
- , Rashid Kazmi
- , David Keeling
- , Peter Kelleher
- , Anne M. Kelly
- , Carly Kempster
- , Fiona Kennedy
- , Sorena Kiani
- , David G. Kiely
- , Nathalie Kingston
- , Sally Kinsey
- , Nigel Klein
- , Robert Klima
- , Ellen Knox
- , Myrto A. Kostadima
- , Gabor Kovacs
- , Ania B. Koziell
- , Roman Kreuzhuber
- , Deepa Krishnakumar
- , Taco W. Kuijpers
- , Ajith Kumar
- , Dinakantha S. Kumararatne
- , Manju A. Kurian
- , James Laffan
- , Michael A. Laffan
- , Fiona Lalloo
- , Michele P. Lambert
- , Hana Lango Allen
- , Sarah H. A. Lawman
- , Allan Lawrie
- , D. Mark Layton
- , Sara E. Lear
- , Melissa M. Lees
- , Claire Lentaigne
- , Adam P. Levine
- , Andrew J. P. Lewington
- , Wei Li
- , Ri Liesner
- , Rachel J. Linger
- , Bin Liu
- , Hilary Longhurst
- , Lorena E. Lorenzo
- , Eleni Louka
- , Silvia Lucato Hadeler
- , Paul A. Lyons
- , Malcolm Macdougall
- , Rajiv D. Machado
- , Robert V. MacKenzie Ross
- , Lucy H. Mackillop
- , Robert MacLaren
- , Bella Madan
- , Laura Magee
- , Mohamed Mahdi-Rogers
- , Eamonn R. Maher
- , Jesmeen Maimaris
- , Mike Makris
- , Sarah Mangles
- , Ania Manson
- , Adnan Manzur
- , Rutendo Mapeta
- , Kevin J. Marchbank
- , Patrick B. Mark
- , Stephen Marks
- , Hugh S. Markus
- , Hanns-Ulrich Marschall
- , Andrew Marshall
- , Jennifer M. Martin
- , Larahmie Masati
- , Mary Mathias
- , Vera Matser
- , Emma L. Matthews
- , Anna Maw
- , Heather Maxwell
- , Paul McAlinden
- , Mark I. McCarthy
- , Elizabeth M. McDermott
- , Simon J. McGowan
- , Coleen McJannet
- , Harriet McKinney
- , Stuart Meacham
- , Adam J. Mead
- , Ignacio Medina Castello
- , Sharon Meehan
- , Karyn Megy
- , Sarju Mehta
- , Catherine L. Mercer
- , Michel Michaelides
- , Anna C. Michell
- , David Milford
- , Carolyn M. Millar
- , Hazel Millar
- , Anoop Mistry
- , Floor Moenen
- , Shahin Moledina
- , David Montani
- , Anthony T. Moore
- , Jason Moore
- , Nicholas W. Morrell
- , Valerie Morrisson
- , Monika Mozere
- , Keith W. Muir
- , Andrew D. Mumford
- , Sai H. K. Murng
- , Iman Nasir
- , Sergey Nejentsev
- , Michael Newnham
- , Joanne Ng
- , Adeline Ngoh
- , Sadia Noorani
- , Muna Noori
- , Paquita Nurden
- , Jennifer M. O’Sullivan
- , Samya Obaji
- , Steven Okoli
- , Eric Oksenhendler
- , Andrea Olschewski
- , Horst Olschewski
- , Albert C. M. Ong
- , Kai Ren Ong
- , Helen Oram
- , Elizabeth Ormondroyd
- , Shokri Othman
- , Willem H. Ouwehand
- , Antonis Pantazis
- , Sofia Papadia
- , Apostolos Papandreou
- , Soo-Mi Park
- , Alasdair P. J. Parker
- , David Parry
- , Georgina Parsons
- , K. John. Pasi
- , Joan Paterson
- , Jeanette H. Payne
- , Andrew J. Peacock
- , Kathelijne Peerlinck
- , Christopher J. Penkett
- , Joanna Pepke-Zaba
- , David Perry
- , Romina Petersen
- , Bartlomiej Piechowski-Jozwiak
- , Fernando Pinto
- , Gary J. Polwarth
- , Mark J. Ponsford
- , Sanjay Prasad
- , Inga Prokopenko
- , Beth Psaila
- , Angela Pyle
- , Waseem Qasim
- , Ellen Quinn
- , Isabella Quinti
- , Sanjay Raina
- , Lavanya Ranganathan
- , Julia Rankin
- , Stuart Rankin
- , Anupama Rao
- , F. Lucy Raymond
- , Paula J. Rayner-Matthews
- , Karola Rehnstrom
- , Evan Reid
- , Mary M. Reilly
- , Tara Renton
- , Shoshana Revel-Vilk
- , Christopher J. Rhodes
- , Andrew S. C. Rice
- , Emma E. Richards
- , Mike Richards
- , Sylvia Richardson
- , Alex Richter
- , Leema Robert
- , Irene Roberts
- , Matthew T. Rondina
- , Elisabeth Rosser
- , Peter Rothwell
- , Catherine Roughley
- , Noemi B. Roy
- , Kevin Rue-Albrecht
- , Omid Sadeghi-Alavijeh
- , Moin A. Saleem
- , Richard M. Salmon
- , Nilesh J. Samani
- , Crina Samarghitean
- , Jennifer G. Sambrook
- , Alba Sanchis-Juan
- , Richard Sandford
- , Saikat Santra
- , Ravishankar B. Sargur
- , Simon C. Satchell
- , Sinisa Savic
- , Laura Scelsi
- , Gwen Schotte
- , Sol Schulman
- , Harald Schulze
- , Richard Scott
- , Marie Scully
- , Claire Searle
- , Werner Seeger
- , Suranjith L. Seneviratne
- , W. A. Carrock Sewell
- , Denis Seyres
- , Fiona Shackley
- , Olga Shamardina
- , Susan E. Shapiro
- , Pankaj Sharma
- , Hassan A. Shehata
- , Deborah Shipley
- , Rakefet Shtoyerman
- , Keith Sibson
- , Lucy Side
- , Ilenia Simeoni
- , Michael Simpson
- , Matthew C. Sims
- , Manish D. Sinha
- , Suthesh Sivapalaratnam
- , Anne-Bine Skytte
- , Kenneth G. C. Smith
- , Katie Snape
- , Linda Sneddon
- , Aman Sohal
- , Florent Soubrier
- , Laura Southgate
- , Mark Southwood
- , Miranda Splitt
- , Simon Staines
- , Emily Staples
- , Hannah Stark
- , Hans Stauss
- , Cathal L. Steele
- , Daniel Stein
- , Penelope E. Stein
- , Jonathan Stephens
- , Kathleen E. Stirrups
- , Sophie Stock
- , Matthew J. Stubbs
- , Jay Suntharalingam
- , Emilia M. Swietlik
- , Emily Symington
- , R. Campbell Tait
- , Kate Talks
- , Rhea Y. Y. Tan
- , Gordon B. Taylor
- , Jecko Thachil
- , James E. D. Thaventhiran
- , Andreas C. Themistocleous
- , David C. Thomas
- , Ellen Thomas
- , Moira J. Thomas
- , Patrick Thomas
- , Dorothy A. Thompson
- , Kate Thomson
- , Adrian J. Thrasher
- , Chantal Thys
- , Tobias Tilly
- , Marc Tischkowitz
- , Catherine Titterton
- , John A. Todd
- , Cheng-Hock Toh
- , Anton T. J. Tool
- , Mark R. Toshner
- , Matthew Traylor
- , Carmen M. Treacy
- , Paul Treadaway
- , Richard C. Trembath
- , Sarah Trippier
- , Salih Tuna
- , Wojciech Turek
- , Ernest Turro
- , Paul D. Upton
- , Rafal Urniaz
- , Tom Vale
- , Chris Van Geet
- , Natalie van Zuydam
- , Anthony M. Vandersteen
- , Marta Vazquez-Lopez
- , Marijcke W. M. Veltman
- , Julie Vogt
- , Julie von Ziegenweidt
- , Anton Vonk Noordegraaf
- , Ajay Vora
- , Minka J. A. Vries
- , Emma L. Wakeling
- , Neil Walker
- , Suellen M. Walker
- , Roddy Walsh
- , Ivy Wanjiku
- , James S. Ware
- , Timothy Q. Warner
- , Evangeline Wassmer
- , Hugh Watkins
- , Henry G. Watson
- , Christopher Watt
- , Dean Waugh
- , Nick Webb
- , Andrew R. Webster
- , Wei Wei
- , Angela Welch
- , Steven B. Welch
- , David Werring
- , Julie Wessels
- , Sarah K. Westbury
- , John-Paul W. Westwood
- , John Wharton
- , Deborah Whitehorn
- , James Whitworth
- , Martin R. Wilkins
- , Lisa Willcocks
- , David J. Williams
- , Catherine Williamson
- , Edwin K. S. Wong
- , Nicholas Wood
- , Yvette Wood
- , Christopher Geoffrey Woods
- , Emma R. Woodward
- , Sarita Workman
- , Stephen J. Wort
- , Austen Worth
- , Katherine Yates
- , Nigel Yeatman
- , Patrick F. K. Yong
- , Timothy Young
- , Ping Yu
- , Patrick Yu-Wai-Man
- , Eliska Zlamalova
- , Paul A. Lyons
- , Matthew E. Hurles
- , Sinisa Savic
- , Siobhan O. Burns
- , Taco W. Kuijpers
- , Ernest Turro
- , Willem H. Ouwehand
- , Adrian J. Thrasher
- & Kenneth G. C. Smith
-
Research |
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
- Allan Bayat
- , Alexej Knaus
- , Annika Wollenberg Juul
- , Dejan Dukic
- , Elena Gardella
- , Agnieszka Charzewska
- , Emma Clement
- , Helle Hjalgrim
- , Dorota Hoffman-Zacharska
- , Denise Horn
- , Rachel Horton
- , Jane A. Hurst
- , Dragana Josifova
- , Line H. G. Larsen
- , Karine Lascelles
- , Ewa Obersztyn
- , Alistair Pagnamenta
- , Deb K. Pal
- , Manuela Pendziwiat
- , Mina Ryten
- , Jenny Taylor
- , Julie Vogt
- , Yvonne Weber
- , Peter M. Krawitz
- , Ingo Helbig
- , Usha Kini
- & Rikke S. Møller
-
Amendments and Corrections | | Open
-
Research |
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
- James E. D. Thaventhiran
- , Hana Lango Allen
- , Oliver S. Burren
- , William Rae
- , Daniel Greene
- , Emily Staples
- , Zinan Zhang
- , James H. R. Farmery
- , Ilenia Simeoni
- , Elizabeth Rivers
- , Jesmeen Maimaris
- , Christopher J. Penkett
- , Jonathan Stephens
- , Sri V. V. Deevi
- , Alba Sanchis-Juan
- , Nicholas S. Gleadall
- , Moira J. Thomas
- , Ravishankar B. Sargur
- , Pavels Gordins
- , Helen E. Baxendale
- , Matthew Brown
- , Paul Tuijnenburg
- , Austen Worth
- , Steven Hanson
- , Rachel J. Linger
- , Matthew S. Buckland
- , Paula J. Rayner-Matthews
- , Kimberly C. Gilmour
- , Crina Samarghitean
- , Suranjith L. Seneviratne
- , David M. Sansom
- , Andy G. Lynch
- , Karyn Megy
- , Eva Ellinghaus
- , David Ellinghaus
- , Silje F. Jorgensen
- , Tom H. Karlsen
- , Kathleen E. Stirrups
- , Antony J. Cutler
- , Dinakantha S. Kumararatne
- , Anita Chandra
- , J. David M. Edgar
- , Archana Herwadkar
- , Nichola Cooper
- , Sofia Grigoriadou
- , Aarnoud P. Huissoon
- , Sarah Goddard
- , Stephen Jolles
- , Catharina Schuetz
- , Felix Boschann
- , Stephen Abbs
- , Zoe Adhya
- , Julian Adlard
- , Maryam Afzal
- , Irshad Ahmed
- , Munaza Ahmed
- , Saeed Ahmed
- , Timothy J. Aitman
- , Hana Alachkar
- , Jayanthi Alamelu
- , Raza Alikhan
- , Carl E. Allen
- , Louise Allen
- , David J. Allsup
- , Arif Alvi
- , Gautam Ambegaonkar
- , Ariharan Anantharachagan
- , Philip Ancliff
- , Julie Anderson
- , Richard Antrobus
- , Ruth Armstrong
- , Gavin Arno
- , Gururaj Arumugakani
- , Rita Arya
- , Sofie Ashford
- , William J. Astle
- , Anthony Attwood
- , Steve Austin
- , Yesim Aydinok
- , Waqar Ayub
- , Christian Babbs
- , Chiara Bacchelli
- , Trevor Baglin
- , Tamam Bakchoul
- , Tadbir K. Bariana
- , Jonathan Barratt
- , Julian Barwell
- , John Baski
- , Rachel W. Bates
- , Joana Batista
- , Helen E. Baxendale
- , Gareth Baynam
- , David L. Bennett
- , Claire Bethune
- , Neha Bhatnagar
- , Shahnaz Bibi
- , Agnieszka Bierzynska
- , Tina Biss
- , Maria A. K. Bitner-Glindzicz
- , Marta Bleda
- , Iulia Blesneac
- , Barbara Boardman
- , Preetham Boddana
- , Harm J. Bogaard
- , Claire Booth
- , Sara Boyce
- , John R. Bradley
- , Angela Brady
- , Gerome Breen
- , Paul Brennan
- , Carole Brewer
- , Annette Briley
- , Matthew Brown
- , Richard Brown
- , Michael J. Browning
- , Mary Brownlie
- , Christine J. Bryson
- , Rachel J. Buchan
- , Jackie Buck
- , Matthew S. Buckland
- , Teofila Bueser
- , Carmen Bugarin Diz
- , Siobhan O. Burns
- , Oliver S. Burren
- , Paul Calleja
- , Jenny Carmichael
- , Gerald Carr-White
- , Keren J. Carss
- , Ruth Casey
- , Elizabeth Chalmers
- , Jenny Chambers
- , John Chambers
- , Melanie M. Y. Chan
- , Melissa V. Chan
- , Anita Chandra
- , Floria Cheng
- , Ivan K. Chinn
- , Patrick F. Chinnery
- , Manali Chitre
- , Sam Chong
- , Martin T. Christian
- , Colin Church
- , Emma M. Clement
- , Naomi Clements Brod
- , Hayley Clifford
- , Virginia E. Clowes
- , Gerry Coghlan
- , Elizabeth Colby
- , Trevor R. P. Cole
- , Janine H. Collins
- , Peter W. Collins
- , Robin Condliffe
- , H. Terence. Cook
- , Stuart Cook
- , Victoria Cookson
- , Nichola Cooper
- , Paul A. Corris
- , Amanda Creaser-Myers
- , Abigail Crisp-Hihn
- , Nicola S. Curry
- , Antony J. Cutler
- , Rosa Da Costa
- , Cesare Danesino
- , Matthew J. Daniels
- , Damaris Darby
- , Louise C. Daugherty
- , E. G. Davies
- , Sophie Davies
- , John Davis
- , Godelieve J. de Bree
- , Sarah Deacock
- , Patrick B. Deegan
- , Sri V. V. Deevi
- , John Dempster
- , Timothy Dent
- , Charu Deshpande
- , Lisa A. Devlin
- , Eleanor F. Dewhurst
- , Anand K. Dixit
- , Peter H. Dixon
- , Rainer Doffinger
- , Helen Dolling
- , Natalie Dormand
- , Kate Downes
- , Anna M. Drazyk
- , Elizabeth Drewe
- , Daniel Duarte
- , Tina Dutt
- , J. David M. Edgar
- , Karen E. Edwards
- , William Egner
- , Melanie N. Ekani
- , Tariq El-Shanawany
- , Shuayb Elkhalifa
- , Tony Elston
- , Ingrid Emmerson
- , Wendy N. Erber
- , Marie Erwood
- , Maria C. Estiu
- , Dafydd Gareth Evans
- , Gillian Evans
- , Tamara Everington
- , Mélanie Eyries
- , James H. R. Farmery
- , Remi Favier
- , Helen V. Firth
- , Maggie M. Fitzpatrick
- , Debra Fletcher
- , Frances A. Flinter
- , James C. Fox
- , Amy J. Frary
- , Courtney E. French
- , Kathleen Freson
- , Mattia Frontini
- , Bruce Furie
- , Daniel P. Gale
- , Henning J. Gall
- , Alice Gardham
- , H. Bobby Gaspar
- , Michael Gattens
- , Neeti Ghali
- , Pavandeep K. Ghataorhe
- , Stefano Ghio
- , Hossein-Ardeschir Ghofrani
- , Rohit Ghurye
- , J. Simon R. Gibbs
- , Rodney D. Gilbert
- , Kimberly C. Gilmour
- , Barbara Girerd
- , Joanna C. Girling
- , Paul Gissen
- , Nicholas S. Gleadall
- , Sarah Goddard
- , Pavels Gordins
- , Kathleen M. Gorman
- , David Gosal
- , Stefan Graf
- , Luigi Grassi
- , Daniel Greene
- , Alan J. Greenhalgh
- , Lynn Greenhalgh
- , Andreas Greinacher
- , Paolo Gresele
- , Philip G. Griffiths
- , Sian Griffiths
- , Sofia Grigoriadou
- , Detelina Grozeva
- , Scott J. Hackett
- , Robert D. M. Hadden
- , Charaka Hadinnapola
- , Rosie Hague
- , William M. Hague
- , Matthias Haimel
- , Matthew Hall
- , Csaba Halmagyi
- , Tracey Hammerton
- , Helen L. Hanson
- , Kirsty Harkness
- , Andrew R. Harper
- , Lorraine Harper
- , Claire Harris
- , Claire Harrison
- , Daniel Hart
- , Ahamad Hassan
- , Grant Hayman
- , Johan W. M. Heemskerk
- , Shivaram Hegde
- , Alex Henderson
- , Robert H. Henderson
- , Anke Hensiek
- , Yvonne M. C. Henskens
- , Archana Herwadkar
- , Joshua Hodgson
- , Jonathan Hoffman
- , Simon Holden
- , Muriel Holder
- , Rita Horvath
- , Henry Houlden
- , Arjan C. Houweling
- , Luke S. Howard
- , Fengyuan Hu
- , Gavin Hudson
- , Sean Hughes
- , Stephen Hughes
- , Anna E. Huis in ‘t Veld
- , Aarnoud P. Huissoon
- , Marc Humbert
- , Matthew E. Hurles
- , Jane A. Hurst
- , Val Irvine
- , Louise Izatt
- , Roger James
- , Praveen Jeevaratnam
- , Mark Johnson
- , Sally A. Johnson
- , Stephen Jolles
- , Jennifer D. Jolley
- , Bryony Jones
- , Julie Jones
- , Dragana Josifova
- , Neringa Jurkute
- , Yousuf M. Karim
- , Mahantesh A. Karoshi
- , Mary A. Kasanicki
- , Hanadi Kazkaz
- , Rashid Kazmi
- , David Keeling
- , Peter Kelleher
- , Anne M. Kelly
- , Carly Kempster
- , Fiona Kennedy
- , Sorena Kiani
- , David G. Kiely
- , Nathalie Kingston
- , Sally Kinsey
- , Nigel Klein
- , Robert Klima
- , Ellen Knox
- , Myrto A. Kostadima
- , Gabor Kovacs
- , Ania B. Koziell
- , Roman Kreuzhuber
- , Deepa Krishnakumar
- , Taco W. Kuijpers
- , Ajith Kumar
- , Dinakantha S. Kumararatne
- , Manju A. Kurian
- , James Laffan
- , Michael A. Laffan
- , Fiona Lalloo
- , Michele P. Lambert
- , Hana Lango Allen
- , Sarah H. A. Lawman
- , Allan Lawrie
- , D. Mark Layton
- , Sara E. Lear
- , Melissa M. Lees
- , Claire Lentaigne
- , Adam P. Levine
- , Andrew J. P. Lewington
- , Wei Li
- , Ri Liesner
- , Rachel J. Linger
- , Bin Liu
- , Hilary Longhurst
- , Lorena E. Lorenzo
- , Eleni Louka
- , Silvia Lucato Hadeler
- , Paul A. Lyons
- , Malcolm Macdougall
- , Rajiv D. Machado
- , Robert V. MacKenzie Ross
- , Lucy H. Mackillop
- , Robert MacLaren
- , Bella Madan
- , Laura Magee
- , Mohamed Mahdi-Rogers
- , Eamonn R. Maher
- , Jesmeen Maimaris
- , Mike Makris
- , Sarah Mangles
- , Ania Manson
- , Adnan Manzur
- , Rutendo Mapeta
- , Kevin J. Marchbank
- , Patrick B. Mark
- , Stephen Marks
- , Hugh S. Markus
- , Hanns-Ulrich Marschall
- , Andrew Marshall
- , Jennifer M. Martin
- , Larahmie Masati
- , Mary Mathias
- , Vera Matser
- , Emma L. Matthews
- , Anna Maw
- , Heather Maxwell
- , Paul McAlinden
- , Mark I. McCarthy
- , Elizabeth M. McDermott
- , Simon J. McGowan
- , Coleen McJannet
- , Harriet McKinney
- , Stuart Meacham
- , Adam J. Mead
- , Ignacio Medina Castello
- , Sharon Meehan
- , Karyn Megy
- , Sarju Mehta
- , Catherine L. Mercer
- , Michel Michaelides
- , Anna C. Michell
- , David Milford
- , Carolyn M. Millar
- , Hazel Millar
- , Anoop Mistry
- , Floor Moenen
- , Shahin Moledina
- , David Montani
- , Anthony T. Moore
- , Jason Moore
- , Nicholas W. Morrell
- , Valerie Morrisson
- , Monika Mozere
- , Keith W. Muir
- , Andrew D. Mumford
- , Sai H. K. Murng
- , Iman Nasir
- , Sergey Nejentsev
- , Michael Newnham
- , Joanne Ng
- , Adeline Ngoh
- , Sadia Noorani
- , Muna Noori
- , Paquita Nurden
- , Jennifer M. O’Sullivan
- , Samya Obaji
- , Steven Okoli
- , Eric Oksenhendler
- , Andrea Olschewski
- , Horst Olschewski
- , Albert C. M. Ong
- , Kai Ren Ong
- , Helen Oram
- , Elizabeth Ormondroyd
- , Shokri Othman
- , Willem H. Ouwehand
- , Antonis Pantazis
- , Sofia Papadia
- , Apostolos Papandreou
- , Soo-Mi Park
- , Alasdair P. J. Parker
- , David Parry
- , Georgina Parsons
- , K. John. Pasi
- , Joan Paterson
- , Jeanette H. Payne
- , Andrew J. Peacock
- , Kathelijne Peerlinck
- , Christopher J. Penkett
- , Joanna Pepke-Zaba
- , David Perry
- , Romina Petersen
- , Bartlomiej Piechowski-Jozwiak
- , Fernando Pinto
- , Gary J. Polwarth
- , Mark J. Ponsford
- , Sanjay Prasad
- , Inga Prokopenko
- , Beth Psaila
- , Angela Pyle
- , Waseem Qasim
- , Ellen Quinn
- , Isabella Quinti
- , Sanjay Raina
- , Lavanya Ranganathan
- , Julia Rankin
- , Stuart Rankin
- , Anupama Rao
- , F. Lucy Raymond
- , Paula J. Rayner-Matthews
- , Karola Rehnstrom
- , Evan Reid
- , Mary M. Reilly
- , Tara Renton
- , Shoshana Revel-Vilk
- , Christopher J. Rhodes
- , Andrew S. C. Rice
- , Emma E. Richards
- , Mike Richards
- , Sylvia Richardson
- , Alex Richter
- , Leema Robert
- , Irene Roberts
- , Matthew T. Rondina
- , Elisabeth Rosser
- , Peter Rothwell
- , Catherine Roughley
- , Noemi B. Roy
- , Kevin Rue-Albrecht
- , Omid Sadeghi-Alavijeh
- , Moin A. Saleem
- , Richard M. Salmon
- , Nilesh J. Samani
- , Crina Samarghitean
- , Jennifer G. Sambrook
- , Alba Sanchis-Juan
- , Richard Sandford
- , Saikat Santra
- , Ravishankar B. Sargur
- , Simon C. Satchell
- , Sinisa Savic
- , Laura Scelsi
- , Gwen Schotte
- , Sol Schulman
- , Harald Schulze
- , Richard Scott
- , Marie Scully
- , Claire Searle
- , Werner Seeger
- , Suranjith L. Seneviratne
- , W. A. Carrock Sewell
- , Denis Seyres
- , Fiona Shackley
- , Olga Shamardina
- , Susan E. Shapiro
- , Pankaj Sharma
- , Hassan A. Shehata
- , Deborah Shipley
- , Rakefet Shtoyerman
- , Keith Sibson
- , Lucy Side
- , Ilenia Simeoni
- , Michael Simpson
- , Matthew C. Sims
- , Manish D. Sinha
- , Suthesh Sivapalaratnam
- , Anne-Bine Skytte
- , Kenneth G. C. Smith
- , Katie Snape
- , Linda Sneddon
- , Aman Sohal
- , Florent Soubrier
- , Laura Southgate
- , Mark Southwood
- , Miranda Splitt
- , Simon Staines
- , Emily Staples
- , Hannah Stark
- , Hans Stauss
- , Cathal L. Steele
- , Daniel Stein
- , Penelope E. Stein
- , Jonathan Stephens
- , Kathleen E. Stirrups
- , Sophie Stock
- , Matthew J. Stubbs
- , Jay Suntharalingam
- , Emilia M. Swietlik
- , Emily Symington
- , R. Campbell Tait
- , Kate Talks
- , Rhea Y. Y. Tan
- , Gordon B. Taylor
- , Jecko Thachil
- , James E. D. Thaventhiran
- , Andreas C. Themistocleous
- , David C. Thomas
- , Ellen Thomas
- , Moira J. Thomas
- , Patrick Thomas
- , Dorothy A. Thompson
- , Kate Thomson
- , Adrian J. Thrasher
- , Chantal Thys
- , Tobias Tilly
- , Marc Tischkowitz
- , Catherine Titterton
- , John A. Todd
- , Cheng-Hock Toh
- , Anton T. J. Tool
- , Mark R. Toshner
- , Matthew Traylor
- , Carmen M. Treacy
- , Paul Treadaway
- , Richard C. Trembath
- , Sarah Trippier
- , Salih Tuna
- , Wojciech Turek
- , Ernest Turro
- , Paul D. Upton
- , Rafal Urniaz
- , Tom Vale
- , Chris Van Geet
- , Natalie van Zuydam
- , Anthony M. Vandersteen
- , Marta Vazquez-Lopez
- , Marijcke W. M. Veltman
- , Julie Vogt
- , Julie von Ziegenweidt
- , Anton Vonk Noordegraaf
- , Ajay Vora
- , Minka J. A. Vries
- , Emma L. Wakeling
- , Neil Walker
- , Suellen M. Walker
- , Roddy Walsh
- , Ivy Wanjiku
- , James S. Ware
- , Timothy Q. Warner
- , Evangeline Wassmer
- , Hugh Watkins
- , Henry G. Watson
- , Christopher Watt
- , Dean Waugh
- , Nick Webb
- , Andrew R. Webster
- , Wei Wei
- , Angela Welch
- , Steven B. Welch
- , David Werring
- , Julie Wessels
- , Sarah K. Westbury
- , John-Paul W. Westwood
- , John Wharton
- , Deborah Whitehorn
- , James Whitworth
- , Martin R. Wilkins
- , Lisa Willcocks
- , David J. Williams
- , Catherine Williamson
- , Edwin K. S. Wong
- , Nicholas Wood
- , Yvette Wood
- , Christopher Geoffrey Woods
- , Emma R. Woodward
- , Sarita Workman
- , Stephen J. Wort
- , Austen Worth
- , Katherine Yates
- , Nigel Yeatman
- , Patrick F. K. Yong
- , Timothy Young
- , Ping Yu
- , Patrick Yu-Wai-Man
- , Eliska Zlamalova
- , Paul A. Lyons
- , Matthew E. Hurles
- , Sinisa Savic
- , Siobhan O. Burns
- , Taco W. Kuijpers
- , Ernest Turro
- , Willem H. Ouwehand
- , Adrian J. Thrasher
- & Kenneth G. C. Smith
-
Research | | Open
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
- Karen J Low
- , Morad Ansari
- , Rami Abou Jamra
- , Angus Clarke
- , Salima El Chehadeh
- , David R FitzPatrick
- , Mark Greenslade
- , Alex Henderson
- , Jane Hurst
- , Kory Keller
- , Paul Kuentz
- , Trine Prescott
- , Franziska Roessler
- , Kaja K Selmer
- , Michael C Schneider
- , Fiona Stewart
- , Katrina Tatton-Brown
- , Julien Thevenon
- , Magnus D Vigeland
- , Julie Vogt
- , Marjolaine Willems
- , Jonathan Zonana
- , D D D Study
- & Sarah F Smithson
-
Research | | Open
-
Research |
Further delineation of the KAT6B molecular and phenotypic spectrum
- Tamsin Gannon
- , Rahat Perveen
- , Hélene Schlecht
- , Simon Ramsden
- , Beverley Anderson
- , Bronwyn Kerr
- , Ruth Day
- , Siddharth Banka
- , Mohnish Suri
- , Siren Berland
- , Michael Gabbett
- , Alan Ma
- , Stan Lyonnet
- , Valerie Cormier-Daire
- , Rüstem Yilmaz
- , Guntram Borck
- , Dagmar Wieczorek
- , Britt-Marie Anderlid
- , Sarah Smithson
- , Julie Vogt
- , Heather Moore-Barton
- , Pelin Ozlem Simsek-Kiper
- , Isabelle Maystadt
- , Anne Destrée
- , Jessica Bucher
- , Brad Angle
- , Shehla Mohammed
- , Emma Wakeling
- , Sue Price
- , Amihood Singer
- , Yves Sznajer
- , Annick Toutain
- , Damien Haye
- , Ruth Newbury-Ecob
- , Melanie Fradin
- , Julie McGaughran
- , Beyhan Tuysuz
- , Mark Tein
- , Katelijne Bouman
- , Tabib Dabir
- , Jenneke Van den Ende
- , Ho Ming Luk
- , Daniela T Pilz
- , Jacqueline Eason
- , Sally Davies
- , Willie Reardon
- , Livia Garavelli
- , Orsetta Zuffardi
- , Koen Devriendt
- , Ruth Armstrong
- , Diana Johnson
- , Martine Doco-Fenzy
- , Emilia Bijlsma
- , Sheila Unger
- , Hermine E Veenstra-Knol
- , Jürgen Kohlhase
- , Ivan FM Lo
- , Janine Smith
- & Jill Clayton-Smith
-
Amendments and Corrections | | Open
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , Jeremy F. McRae
- , Stephen Clayton
- , Tomas W. Fitzgerald
- , Joanna Kaplanis
- , Elena Prigmore
- , Diana Rajan
- , Alejandro Sifrim
- , Stuart Aitken
- , Nadia Akawi
- , Mohsan Alvi
- , Kirsty Ambridge
- , Daniel M. Barrett
- , Tanya Bayzetinova
- , Philip Jones
- , Wendy D. Jones
- , Daniel King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
-
Amendments and Corrections | | Open
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , Jeremy F. McRae
- , Stephen Clayton
- , Tomas W. Fitzgerald
- , Joanna Kaplanis
- , Elena Prigmore
- , Diana Rajan
- , Alejandro Sifrim
- , Stuart Aitken
- , Nadia Akawi
- , Mohsan Alvi
- , Kirsty Ambridge
- , Daniel M. Barrett
- , Tanya Bayzetinova
- , Philip Jones
- , Wendy D. Jones
- , Daniel King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
-
Research | | Open
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , Jeremy F. McRae
- , Stephen Clayton
- , Tomas W. Fitzgerald
- , Joanna Kaplanis
- , Elena Prigmore
- , Diana Rajan
- , Alejandro Sifrim
- , Stuart Aitken
- , Nadia Akawi
- , Mohsan Alvi
- , Kirsty Ambridge
- , Daniel M. Barrett
- , Tanya Bayzetinova
- , Philip Jones
- , Wendy D. Jones
- , Daniel King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
-
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
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
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
- M N Loviglio
- , M Leleu
- , K Männik
- , M Passeggeri
- , G Giannuzzi
- , I van der Werf
- , S M Waszak
- , M Zazhytska
- , I Roberts-Caldeira
- , N Gheldof
- , E Migliavacca
- , A A Alfaiz
- , L Hippolyte
- , A M Maillard
- , Maria Nicla Loviglio
- , Katrin Männik
- , Ilse van der Werf
- , Giuliana Giannuzzi
- , Marianna Zazhytska
- , Nele Gheldof
- , Eugenia Migliavacca
- , Ali A Alfaiz
- , Inês Roberts-Caldeira
- , Loyse Hippolyte
- , Anne M Maillard
- , Alessandra Ferrarini
- , Florence Niel Butschi
- , Bernard Conrad
- , Marie-Claude Addor
- , Marco Belfiore
- , Katharina Roetzer
- , Anke Van Dijck
- , Bettina Blaumeiser
- , Frank Kooy
- , Filip Roelens
- , Annelies Dheedene
- , Barbara Delle Chiaie
- , Björn Menten
- , Ann Oostra
- , Jean-Hubert Caberg
- , Melissa Carter
- , Barbara Kellam
- , Dimitri J Stavropoulos
- , Christian Marshall
- , Stephen W Scherer
- , Rosanna Weksberg
- , Cheryl Cytrynbaum
- , Anne Bassett
- , Chelsea Lowther
- , Jane Gillis
- , Sara MacKay
- , Iben Bache
- , Lilian B Ousager
- , Maja Patricia Smerdel
- , Jesper Graakjaer
- , Susanne Kjaergaard
- , Andres Metspalu
- , Michele Mathieu
- , Dominique Bonneau
- , Agnes Guichet
- , Philippe Parent
- , Claude Férec
- , Marion Gerard
- , Ghislaine Plessis
- , James Lespinasse
- , Alice Masurel
- , Nathalie Marle
- , Laurence Faivre
- , Patrick Callier
- , Valerie Layet
- , Nathalie Le Meur
- , Céline Le Goff
- , Bénédicte Duban-Bedu
- , Sylvie Sukno
- , Odile Boute
- , Joris Andrieux
- , Patricia Blanchet
- , David Geneviève
- , Jacques Puechberty
- , Anouck Schneider
- , Bruno Leheup
- , Philippe Jonveaux
- , Sandra Mercier
- , Albert David
- , Cédric Le Caignec
- , Loic de Pontual
- , Eva Pipiras
- , Aurelia Jacquette
- , Boris Keren
- , Brigitte Gilbert-Dussardier
- , Frederic Bilan
- , Alice Goldenberg
- , Pascal Chambon
- , Annick Toutain
- , Marianne Till
- , Damien Sanlaville
- , Barbara Leube
- , Brigitte Royer-Pokora
- , Hans Jörgen Grabe
- , Carsten Oliver Schmidt
- , Claudia Schurmann
- , Georg Homuth
- , Gudmar Thorleifsson
- , Unnur Thorsteinsdottir
- , Laura Bernardini
- , Antonio Novelli
- , Lucia Micale
- , Giuseppe Merla
- , Marcella Zollino
- , Francesca Mari
- , Caterina Lo Rizzo
- , Alessandra Renieri
- , Margherita Silengo
- , Anneke T Vulto-van Silfhout
- , Meyke Schouten
- , Rolph Pfundt
- , Nicole de Leeuw
- , Fleur Vansenne
- , Saskia M Maas
- , Daniela QCM Barge-Schaapveld
- , Alida C Knegt
- , Barbro Stadheim
- , Olaug Rodningen
- , Gunnar Houge
- , Sue Price
- , Lara Hawkes
- , Carolyn Campbell
- , Usha Kini
- , Julie Vogt
- , Robin Walters
- , Alexandra Blakemore
- , James F Gusella
- , Yiping Shen
- , Daryl Scott
- , Carlos A Bacino
- , Karen Tsuchiya
- , Roger Ladda
- , Susan Sell
- , Alexander Asamoah
- , Aline I Hamati
- , Jill A Rosenfeld
- , Lisa G Shaffer
- , Elyse Mitchell
- , Jennelle C Hodge
- , Jacques S Beckmann
- , Sébastien Jacquemont
- , Alexandre Reymond
- , Alexandre Reymond
- , Lisa J Ewans
- , David Mowat
- , Jan Walker
- , David J Amor
- , Hilde Van Esch
- , Patricia Leroy
- , Jean-Hubert Caberg
- , John-Steven Bamforth
- , Deepti Babu
- , Marianne Till
- , Damien Sanlaville
- , David Geneviève
- , Jacques Puechberty
- , Bertrand Isidor
- , Nataliya DiDonato
- , Karl Hackmann
- , Marzia Passeggeri
- , Arie van Haeringen
- , Jill A Rosenfeld
- , Lisa G Shaffer
- , Rosemarie Smith
- , Sara Ellingwood
- , Darren M Farber
- , Vinay Puri
- , Neda Zadeh
- , David D Weaver
- , Mandy Miller
- , Timothy Wilks
- , Carolina J Jorgez
- , DeeDee Lafayette
- , Sébastien Jacquemont
- , A Van Dijck
- , R F Kooy
- , D Sanlaville
- , J A Rosenfeld
- , L G Shaffer
- , J Andrieux
- , C Marshall
- , S W Scherer
- , Y Shen
- , J F Gusella
- , U Thorsteinsdottir
- , G Thorleifsson
- , E T Dermitzakis
- , B Deplancke
- , J S Beckmann
- , J Rougemont
- , S Jacquemont
- & A Reymond
-
Research |
Prevalence and architecture of de novo mutations in developmental disorders
- Jeremy F. McRae
- , Stephen Clayton
- , Tomas W. Fitzgerald
- , Joanna Kaplanis
- , Elena Prigmore
- , Diana Rajan
- , Alejandro Sifrim
- , Stuart Aitken
- , Nadia Akawi
- , Mohsan Alvi
- , Kirsty Ambridge
- , Daniel M. Barrett
- , Tanya Bayzetinova
- , Philip Jones
- , Wendy D. Jones
- , Daniel King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Ruth Newbury-Ecob
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Sue Price
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Julia Rankin
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- & Matthew E. Hurles
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| Open
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
- Josephina A.N. Meester
- , Geert Vandeweyer
- , Isabel Pintelon
- , Martin Lammens
- , Lana Van Hoorick
- , Simon De Belder
- , Kathryn Waitzman
- , Luciana Young
- , Larry W. Markham
- , Julie Vogt
- , Julie Richer
- , Luc M. Beauchesne
- , Sheila Unger
- , Andrea Superti-Furga
- , Milan Prsa
- , Rami Dhillon
- , Edwin Reyniers
- , Harry C. Dietz
- , Wim Wuyts
- , Geert Mortier
- , Aline Verstraeten
- , Lut Van Laer
- & Bart L. Loeys
