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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
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Research | | Open
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Amendments and Corrections |
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Amendments and Corrections |
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Amendments and Corrections |
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Amendments and Corrections |
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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
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Amendments and Corrections |
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
- Christine Shieh
- , Natasha Jones
- , Brigitte Vanle
- , Margaret Au
- , Alden Y. Huang
- , Ana P. G. Silva
- , Hane Lee
- , Emilie D. Douine
- , Maria G. Otero
- , Andrew Choi
- , Katheryn Grand
- , Ingrid P. Taff
- , Mauricio R. Delgado
- , M. J. Hajianpour
- , Andrea Seeley
- , Luis Rohena
- , Hilary Vernon
- , Karen W. Gripp
- , Samantha A. Vergano
- , Sonal Mahida
- , Sakkubai Naidu
- , Ana Berta Sousa
- , Karen E. Wain
- , Thomas D. Challman
- , Geoffrey Beek
- , Donald Basel
- , Judith Ranells
- , Rosemarie Smith
- , Roman Yusupov
- , Mary-Louise Freckmann
- , Lisa Ohden
- , Laura Davis-Keppen
- , David Chitayat
- , James J. Dowling
- , Richard Finkel
- , Andrew Dauber
- , Rebecca Spillmann
- , Loren D. M. Pena
- , Kay Metcalfe
- , Miranda Splitt
- , Katherine Lachlan
- , Shane A. McKee
- , Jane Hurst
- , David R. Fitzpatrick
- , Jenny E. V. Morton
- , Helen Cox
- , Sunita Venkateswaran
- , Juan I. Young
- , Eric D. Marsh
- , Stanley F. Nelson
- , Julian A. Martinez
- , John M. Graham Jr
- , Usha Kini
- , Joel P. Mackay
- & Tyler Mark Pierson
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Amendments and Corrections |
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Amendments and Corrections |
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Amendments and Corrections |
Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
- Natalie D Shaw
- , Harrison Brand
- , Zachary A Kupchinsky
- , Hemant Bengani
- , Lacey Plummer
- , Takako I Jones
- , Serkan Erdin
- , Kathleen A Williamson
- , Joe Rainger
- , Alexei Stortchevoi
- , Kaitlin Samocha
- , Benjamin B Currall
- , Donncha S Dunican
- , Ryan L Collins
- , Jason R Willer
- , Angela Lek
- , Monkol Lek
- , Malik Nassan
- , Shahrin Pereira
- , Tammy Kammin
- , Diane Lucente
- , Alexandra Silva
- , Catarina M Seabra
- , Colby Chiang
- , Yu An
- , Morad Ansari
- , Jacqueline K Rainger
- , Shelagh Joss
- , Jill Clayton Smith
- , Margaret F Lippincott
- , Sylvia S Singh
- , Nirav Patel
- , Jenny W Jing
- , Jennifer R Law
- , Nalton Ferraro
- , Alain Verloes
- , Anita Rauch
- , Katharina Steindl
- , Markus Zweier
- , Ianina Scheer
- , Daisuke Sato
- , Nobuhiko Okamoto
- , Christina Jacobsen
- , Jeanie Tryggestad
- , Steven Chernausek
- , Lisa A Schimmenti
- , Benjamin Brasseur
- , Claudia Cesaretti
- , Jose E García-Ortiz
- , Tatiana Pineda Buitrago
- , Orlando Perez Silva
- , Jodi D Hoffman
- , Wolfgang Mühlbauer
- , Klaus W Ruprecht
- , Bart L Loeys
- , Masato Shino
- , Angela M Kaindl
- , Chie-Hee Cho
- , Cynthia C Morton
- , Richard R Meehan
- , Veronica van Heyningen
- , Eric C Liao
- , Ravikumar Balasubramanian
- , Janet E Hall
- , Stephanie B Seminara
- , Daniel Macarthur
- , Steven A Moore
- , Koh-ichiro Yoshiura
- , James F Gusella
- , Joseph A Marsh
- , John M Graham Jr
- , Angela E Lin
- , Nicholas Katsanis
- , Peter L Jones
- , William F Crowley Jr
- , Erica E Davis
- , David R FitzPatrick
- & Michael E Talkowski
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News and Views |
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Research |
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News and Views |
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Research | | Open
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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
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Research |
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Research |
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
- Christine Shieh
- , Natasha Jones
- , Brigitte Vanle
- , Margaret Au
- , Alden Y. Huang
- , Ana P. G. Silva
- , Hane Lee
- , Emilie D. Douine
- , Maria G. Otero
- , Andrew Choi
- , Katheryn Grand
- , Ingrid P. Taff
- , Mauricio R. Delgado
- , M. J. Hajianpour
- , Andrea Seeley
- , Luis Rohena
- , Hilary Vernon
- , Karen W. Gripp
- , Samantha A. Vergano
- , Sonal Mahida
- , Sakkubai Naidu
- , Ana Berta Sousa
- , Karen E. Wain
- , Thomas D. Challman
- , Geoffrey Beek
- , Donald Basel
- , Judith Ranells
- , Rosemarie Smith
- , Roman Yusupov
- , Mary-Louise Freckmann
- , Lisa Ohden
- , Laura Davis-Keppen
- , David Chitayat
- , James J. Dowling
- , Richard Finkel
- , Andrew Dauber
- , Rebecca Spillmann
- , Loren D. M. Pena
- , Kay Metcalfe
- , Miranda Splitt
- , Katherine Lachlan
- , Shane A. McKee
- , Jane Hurst
- , David R. Fitzpatrick
- , Jenny E. V. Morton
- , Helen Cox
- , Sunita Venkateswaran
- , Juan I. Young
- , Eric D. Marsh
- , Stanley F. Nelson
- , Julian A. Martinez
- , John M. Graham Jr
- , Usha Kini
- , Joel P. Mackay
- & Tyler Mark Pierson
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Research |
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Research |
An excess of chromosome 1 breakpoints in male infertility
- Iben Bache
- , Elvire Van Assche
- , Sultan Cingoz
- , Merete Bugge
- , Zeynep Tümer
- , Mads Hjorth
- , Claes Lundsteen
- , James Lespinasse
- , Kirsten Winther
- , Anita Niebuhr
- , Vera Kalscheuer
- , Inge Liebaers
- , Maryse Bonduelle
- , Herman Tournaye
- , Carmen Ayuso
- , Gotthold Barbi
- , Elisabeth Blennow
- , Georges Bourrouillou
- , Karen Brondum-Nielsen
- , Gert Bruun-Petersen
- , Marie-Francoise Croquette
- , Sophie Dahoun
- , Bruno Dallapiccola
- , Val Davison
- , Bruno Delobel
- , Hans-Christoph Duba
- , Laurence Duprez
- , Malcolm Ferguson-Smith
- , David R FitzPatrick
- , Elizabeth Grace
- , Ingo Hansmann
- , Maj Hultén
- , Peter KA Jensen
- , Philippe Jonveaux
- , Ulf Kristoffersson
- , Isidora Lopez-Pajares
- , Jean McGowan-Jordan
- , Jan Murken
- , Maria Orera
- , Tony Parkin
- , Eberhard Passarge
- , Carmen Ramos
- , Kirsten Rasmussen
- , Werner Schempp
- , Regine Schubert
- , Eberhard Schwinger
- , Fiorella Shabtai
- , Kim Smith
- , Raymond Stallings
- , Margarita Stefanova
- , Lisbeth Tranebjerg
- , Catherine Turleau
- , Carl Birger van der Hagen
- , Michel Vekemans
- , Nadja Kokalj Vokac
- , Klaus Wagner
- , Jan Wahlstroem
- , Leopoldo Zelante
- & Niels Tommerup
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Research |
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
- Katie Snape
- , Sandra Hanks
- , Elise Ruark
- , Patricio Barros-Núñez
- , Anna Elliott
- , Anne Murray
- , Andrew H Lane
- , Nora Shannon
- , Patrick Callier
- , David Chitayat
- , Jill Clayton-Smith
- , David R FitzPatrick
- , David Gisselsson
- , Sebastien Jacquemont
- , Keiko Asakura-Hay
- , Mark A Micale
- , John Tolmie
- , Peter D Turnpenny
- , Michael Wright
- , Jenny Douglas
- & Nazneen Rahman
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Research | | Open
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
- Kathleen A. Williamson
- , H. Nikki Hall
- , Liusaidh J. Owen
- , Benjamin J. Livesey
- , Isabel M. Hanson
- , G. G. W. Adams
- , Simon Bodek
- , Patrick Calvas
- , Bruce Castle
- , Michael Clarke
- , Alexander T. Deng
- , Patrick Edery
- , Richard Fisher
- , Gabriele Gillessen-Kaesbach
- , Elise Heon
- , Jane Hurst
- , Dragana Josifova
- , Birgit Lorenz
- , Shane McKee
- , Francoise Meire
- , Anthony T. Moore
- , Michael Parker
- , Charlotte M. Reiff
- , Jay Self
- , Edward S. Tobias
- , Joke B. G. M. Verheij
- , Marjolaine Willems
- , Denise Williams
- , Veronica van Heyningen
- , Joseph A. Marsh
- & David R. FitzPatrick
-
Research | | Open
Contribution of retrotransposition to developmental disorders
- Eugene J. Gardner
- , Elena Prigmore
- , Giuseppe Gallone
- , Petr Danecek
- , Kaitlin E. Samocha
- , Juliet Handsaker
- , Sebastian S. Gerety
- , Holly Ironfield
- , Patrick J. Short
- , Alejandro Sifrim
- , Tarjinder Singh
- , Kate E. Chandler
- , Emma Clement
- , Katherine L. Lachlan
- , Katrina Prescott
- , Elisabeth Rosser
- , David R. FitzPatrick
- , Helen V. Firth
- & Matthew E. Hurles
-
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
-
Research | | Open
-
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
-
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 |
-
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
-
Research |
-
Research |
-
Reviews |
-
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
-
| Open
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
- Hemant Bengani
- , Mark Handley
- , Mohsan Alvi
- , Rita Ibitoye
- , Melissa Lees
- , Sally Ann Lynch
- , Wayne Lam
- , Madeleine Fannemel
- , Ann Nordgren
- , H. Malmgren
- , M. Kvarnung
- , Sarju Mehta
- , Shane McKee
- , Margo Whiteford
- , Fiona Stewart
- , Fiona Connell
- , Jill Clayton-Smith
- , Sahar Mansour
- , Shehla Mohammed
- , Alan Fryer
- , Jenny Morton
- , Detelina Grozeva
- , Tara Asam
- , David Moore
- , Alejandro Sifrim
- , Jeremy McRae
- , Matthew E. Hurles
- , Helen V. Firth
- , F. Lucy Raymond
- , Usha Kini
- , Christoffer Nellåker
- , DDD study
- & David R. FitzPatrick
-
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
-
Research |
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
- Alejandro Sifrim
- , Marc-Phillip Hitz
- , Anna Wilsdon
- , Jeroen Breckpot
- , Saeed H Al Turki
- , Bernard Thienpont
- , Jeremy McRae
- , Tomas W Fitzgerald
- , Tarjinder Singh
- , Ganesh Jawahar Swaminathan
- , Elena Prigmore
- , Diana Rajan
- , Hashim Abdul-Khaliq
- , Siddharth Banka
- , Ulrike M M Bauer
- , Jamie Bentham
- , Felix Berger
- , Shoumo Bhattacharya
- , Frances Bu'Lock
- , Natalie Canham
- , Irina-Gabriela Colgiu
- , Catherine Cosgrove
- , Helen Cox
- , Ingo Daehnert
- , Allan Daly
- , John Danesh
- , Alan Fryer
- , Marc Gewillig
- , Emma Hobson
- , Kirstin Hoff
- , Tessa Homfray
- , Anne-Karin Kahlert
- , Ami Ketley
- , Hans-Heiner Kramer
- , Katherine Lachlan
- , Anne Katrin Lampe
- , Jacoba J Louw
- , Ashok Kumar Manickara
- , Dorin Manase
- , Karen P McCarthy
- , Kay Metcalfe
- , Carmel Moore
- , Ruth Newbury-Ecob
- , Seham Osman Omer
- , Willem H Ouwehand
- , Soo-Mi Park
- , Michael J Parker
- , Thomas Pickardt
- , Martin O Pollard
- , Leema Robert
- , David J Roberts
- , Jennifer Sambrook
- , Kerry Setchfield
- , Brigitte Stiller
- , Chris Thornborough
- , Okan Toka
- , Hugh Watkins
- , Denise Williams
- , Michael Wright
- , Seema Mital
- , Piers E F Daubeney
- , Bernard Keavney
- , Judith Goodship
- , Riyadh Mahdi Abu-Sulaiman
- , Sabine Klaassen
- , Caroline F Wright
- , Helen V Firth
- , Jeffrey C Barrett
- , Koenraad Devriendt
- , David R FitzPatrick
- , J David Brook
- & Matthew E Hurles
-
Research |
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
- Natalie D Shaw
- , Harrison Brand
- , Zachary A Kupchinsky
- , Hemant Bengani
- , Lacey Plummer
- , Takako I Jones
- , Serkan Erdin
- , Kathleen A Williamson
- , Joe Rainger
- , Alexei Stortchevoi
- , Kaitlin Samocha
- , Benjamin B Currall
- , Donncha S Dunican
- , Ryan L Collins
- , Jason R Willer
- , Angela Lek
- , Monkol Lek
- , Malik Nassan
- , Shahrin Pereira
- , Tammy Kammin
- , Diane Lucente
- , Alexandra Silva
- , Catarina M Seabra
- , Colby Chiang
- , Yu An
- , Morad Ansari
- , Jacqueline K Rainger
- , Shelagh Joss
- , Jill Clayton Smith
- , Margaret F Lippincott
- , Sylvia S Singh
- , Nirav Patel
- , Jenny W Jing
- , Jennifer R Law
- , Nalton Ferraro
- , Alain Verloes
- , Anita Rauch
- , Katharina Steindl
- , Markus Zweier
- , Ianina Scheer
- , Daisuke Sato
- , Nobuhiko Okamoto
- , Christina Jacobsen
- , Jeanie Tryggestad
- , Steven Chernausek
- , Lisa A Schimmenti
- , Benjamin Brasseur
- , Claudia Cesaretti
- , Jose E García-Ortiz
- , Tatiana Pineda Buitrago
- , Orlando Perez Silva
- , Jodi D Hoffman
- , Wolfgang Mühlbauer
- , Klaus W Ruprecht
- , Bart L Loeys
- , Masato Shino
- , Angela M Kaindl
- , Chie-Hee Cho
- , Cynthia C Morton
- , Richard R Meehan
- , Veronica van Heyningen
- , Eric C Liao
- , Ravikumar Balasubramanian
- , Janet E Hall
- , Stephanie B Seminara
- , Daniel Macarthur
- , Steven A Moore
- , Koh-ichiro Yoshiura
- , James F Gusella
- , Joseph A Marsh
- , John M Graham Jr
- , Angela E Lin
- , Nicholas Katsanis
- , Peter L Jones
- , William F Crowley Jr
- , Erica E Davis
- , David R FitzPatrick
- & Michael E Talkowski
-
Research |
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Claire Redin
- , Harrison Brand
- , Ryan L Collins
- , Tammy Kammin
- , Elyse Mitchell
- , Jennelle C Hodge
- , Carrie Hanscom
- , Vamsee Pillalamarri
- , Catarina M Seabra
- , Mary-Alice Abbott
- , Omar A Abdul-Rahman
- , Erika Aberg
- , Rhett Adley
- , Sofia L Alcaraz-Estrada
- , Fowzan S Alkuraya
- , Yu An
- , Mary-Anne Anderson
- , Caroline Antolik
- , Kwame Anyane-Yeboa
- , Joan F Atkin
- , Tina Bartell
- , Jonathan A Bernstein
- , Elizabeth Beyer
- , Ian Blumenthal
- , Ernie M H F Bongers
- , Eva H Brilstra
- , Chester W Brown
- , Hennie T Brüggenwirth
- , Bert Callewaert
- , Colby Chiang
- , Ken Corning
- , Helen Cox
- , Edwin Cuppen
- , Benjamin B Currall
- , Tom Cushing
- , Dezso David
- , Matthew A Deardorff
- , Annelies Dheedene
- , Marc D'Hooghe
- , Bert B A de Vries
- , Dawn L Earl
- , Heather L Ferguson
- , Heather Fisher
- , David R FitzPatrick
- , Pamela Gerrol
- , Daniela Giachino
- , Joseph T Glessner
- , Troy Gliem
- , Margo Grady
- , Brett H Graham
- , Cristin Griffis
- , Karen W Gripp
- , Andrea L Gropman
- , Andrea Hanson-Kahn
- , David J Harris
- , Mark A Hayden
- , Rosamund Hill
- , Ron Hochstenbach
- , Jodi D Hoffman
- , Robert J Hopkin
- , Monika W Hubshman
- , A Micheil Innes
- , Mira Irons
- , Melita Irving
- , Jessie C Jacobsen
- , Sandra Janssens
- , Tamison Jewett
- , John P Johnson
- , Marjolijn C Jongmans
- , Stephen G Kahler
- , David A Koolen
- , Jerome Korzelius
- , Peter M Kroisel
- , Yves Lacassie
- , William Lawless
- , Emmanuelle Lemyre
- , Kathleen Leppig
- , Alex V Levin
- , Haibo Li
- , Hong Li
- , Eric C Liao
- , Cynthia Lim
- , Edward J Lose
- , Diane Lucente
- , Michael J Macera
- , Poornima Manavalan
- , Giorgia Mandrile
- , Carlo L Marcelis
- , Lauren Margolin
- , Tamara Mason
- , Diane Masser-Frye
- , Michael W McClellan
- , Cinthya J Zepeda Mendoza
- , Björn Menten
- , Sjors Middelkamp
- , Liya R Mikami
- , Emily Moe
- , Shehla Mohammed
- , Tarja Mononen
- , Megan E Mortenson
- , Graciela Moya
- , Aggie W Nieuwint
- , Zehra Ordulu
- , Sandhya Parkash
- , Susan P Pauker
- , Shahrin Pereira
- , Danielle Perrin
- , Katy Phelan
- , Raul E Piña Aguilar
- , Pino J Poddighe
- , Giulia Pregno
- , Salmo Raskin
- , Linda Reis
- , William Rhead
- , Debra Rita
- , Ivo Renkens
- , Filip Roelens
- , Jayla Ruliera
- , Patrick Rump
- , Samantha L P Schilit
- , Ranad Shaheen
- , Rebecca Sparkes
- , Erica Spiegel
- , Blair Stevens
- , Matthew R Stone
- , Julia Tagoe
- , Joseph V Thakuria
- , Bregje W van Bon
- , Jiddeke van de Kamp
- , Ineke van Der Burgt
- , Ton van Essen
- , Conny M van Ravenswaaij-Arts
- , Markus J van Roosmalen
- , Sarah Vergult
- , Catharina M L Volker-Touw
- , Dorothy P Warburton
- , Matthew J Waterman
- , Susan Wiley
- , Anna Wilson
- , Maria de la Concepcion A Yerena-de Vega
- , Roberto T Zori
- , Brynn Levy
- , Han G Brunner
- , Nicole de Leeuw
- , Wigard P Kloosterman
- , Erik C Thorland
- , Cynthia C Morton
- , James F Gusella
- & Michael E Talkowski
-
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 |
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
- Nadia Akawi
- , Jeremy McRae
- , Morad Ansari
- , Meena Balasubramanian
- , Moira Blyth
- , Angela F Brady
- , Stephen Clayton
- , Trevor Cole
- , Charu Deshpande
- , Tomas W Fitzgerald
- , Nicola Foulds
- , Richard Francis
- , George Gabriel
- , Sebastian S Gerety
- , Judith Goodship
- , Emma Hobson
- , Wendy D Jones
- , Shelagh Joss
- , Daniel King
- , Nikolai Klena
- , Ajith Kumar
- , Melissa Lees
- , Chris Lelliott
- , Jenny Lord
- , Dominic McMullan
- , Mary O'Regan
- , Deborah Osio
- , Virginia Piombo
- , Elena Prigmore
- , Diana Rajan
- , Elisabeth Rosser
- , Alejandro Sifrim
- , Audrey Smith
- , Ganesh J Swaminathan
- , Peter Turnpenny
- , James Whitworth
- , Caroline F Wright
- , Helen V Firth
- , Jeffrey C Barrett
- , Cecilia W Lo
- , David R FitzPatrick
- & Matthew E Hurles
-
Research | | Open
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome
- Magali Naville
- , Minaka Ishibashi
- , Marco Ferg
- , Hemant Bengani
- , Silke Rinkwitz
- , Monika Krecsmarik
- , Thomas A. Hawkins
- , Stephen W. Wilson
- , Elizabeth Manning
- , Chandra S. R. Chilamakuri
- , David I. Wilson
- , Alexandra Louis
- , F. Lucy Raymond
- , Sepand Rastegar
- , Uwe Strähle
- , Boris Lenhard
- , Laure Bally-Cuif
- , Veronica van Heyningen
- , David R. FitzPatrick
- , Thomas S. Becker
- & Hugues Roest Crollius
-
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
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Research |
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
- Sabina Benko
- , Judy A Fantes
- , Jeanne Amiel
- , Dirk-Jan Kleinjan
- , Sophie Thomas
- , Jacqueline Ramsay
- , Negar Jamshidi
- , Abdelkader Essafi
- , Simon Heaney
- , Christopher T Gordon
- , David McBride
- , Christelle Golzio
- , Malcolm Fisher
- , Paul Perry
- , Véronique Abadie
- , Carmen Ayuso
- , Muriel Holder-Espinasse
- , Nicky Kilpatrick
- , Melissa M Lees
- , Arnaud Picard
- , I Karen Temple
- , Paul Thomas
- , Marie-Paule Vazquez
- , Michel Vekemans
- , Hugues Roest Crollius
- , Nicholas D Hastie
- , Arnold Munnich
- , Heather C Etchevers
- , Anna Pelet
- , Peter G Farlie
- , David R FitzPatrick
- & Stanislas Lyonnet
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Research |
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Research |
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Research |
Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip
- Fedik Rahimov
- , Mary L Marazita
- , Axel Visel
- , Margaret E Cooper
- , Michael J Hitchler
- , Michele Rubini
- , Frederick E Domann
- , Manika Govil
- , Kaare Christensen
- , Camille Bille
- , Mads Melbye
- , Astanand Jugessur
- , Rolv T Lie
- , Allen J Wilcox
- , David R Fitzpatrick
- , Eric D Green
- , Peter A Mossey
- , Julian Little
- , Regine P Steegers-Theunissen
- , Len A Pennacchio
- , Brian C Schutte
- & Jeffrey C Murray
