nature.com search

Loading Filters

Showing 1–14 of 14 results

Loading Filters

Amendments and Corrections | 23 April 2009
Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
- Dorien Lugtenberg
- , Tjitske Kleefstra
- , Astrid R Oudakker
- , Willy M Nillesen
- , Helger G Yntema
- , Andreas Tzschach
- , Martine Raynaud
- , Dietz Rating
- , Hubert Journel
- , Jamel Chelly
- , Cyril Goizet
- , Didier Lacombe
- , Jean-Michel Pedespan
- , Bernard Echenne
- , Gholamali Tariverdian
- , Declan O'Rourke
- , Mary D King
- , Andrew Green
- , Margriet van Kogelenberg
- , Hilde Van Esch
- , Jozef Gecz
- , Ben CJ Hamel
- , Hans van Bokhoven
- & Arjan PM de Brouwer
European Journal of Human Genetics 17 , 697–697

Rights & permissionsfor article Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy . Opens in a new window.
Amendments and Corrections | 29 March 2016 | Open
Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
- Miriam Schmidts
- , Yuqing Hou
- , Claudio R. Cortés
- , Dorus A. Mans
- , Celine Huber
- , Karsten Boldt
- , Mitali Patel
- , Jeroen van Reeuwijk
- , Jean-Marc Plaza
- , Sylvia E. C. van Beersum
- , Zhi Min Yap
- , Stef J. F. Letteboer
- , S. Paige Taylor
- , Warren Herridge
- , Colin A. Johnson
- , Peter J. Scambler
- , Marius Ueffing
- , Hulya Kayserili
- , Deborah Krakow
- , Stephen M. King
- , Saeed Al-Turki
- , Carl Anderson
- , Richard Anney
- , Dinu Antony
- , Jennifer Asimit
- , Mohammad Ayub
- , Jeff Barrett
- , Inês Barroso
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Douglas Blackwood
- , Martin Bobrow
- , Elena Bochukova
- , Patrick Bolton
- , Chris Boustred
- , Gerome Breen
- , Marie-Jo Brion
- , Andrew Brown
- , Mattia Calissano
- , Keren Carss
- , Krishna Chatterjee
- , Lu Chen
- , Sebhattin Cirak
- , Peter Clapham
- , Gail Clement
- , Guy Coates
- , David Collier
- , Catherine Cosgrove
- , Tony Cox
- , Nick Craddock
- , Lucy Crooks
- , Sarah Curran
- , Allan Daly
- , Petr Danecek
- , George Davey Smith
- , Aaron Day-Williams
- , Ian Day
- , Richard Durbin
- , Sarah Edkins
- , Peter Ellis
- , David Evans
- , I. Sadaf Farooqi
- , Ghazaleh Fatemifar
- , David Fitzpatrick
- , Paul Flicek
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Louise Gallagher
- , Tom Gaunt
- , Daniel Geschwind
- , Celia Greenwood
- , Detelina Grozeva
- , Xiaosen Guo
- , Hugh Gurling
- , Deborah Hart
- , Audrey Hendricks
- , Peter Holmans
- , Jie Huang
- , Steve E. Humphries
- , Matt Hurles
- , Pirro Hysi
- , David Jackson
- , Yalda Jamshidi
- , David Jewell
- , Joyce Chris
- , Jane Kaye
- , Thomas Keane
- , John Kemp
- , Karen Kennedy
- , Alastair Kent
- , Anja Kolb-Kokocinski
- , Genevieve Lachance
- , Cordelia Langford
- , Irene Lee
- , Rui Li
- , Yingrui Li
- , Liu Ryan
- , Jouko Lönnqvist
- , Margarida Lopes
- , Daniel G. MacArthur
- , Mangino Massimo
- , Jonathan Marchini
- , John Maslen
- , Shane McCarthy
- , Peter McGuffin
- , Andrew McIntosh
- , Andrew McKechanie
- , Andrew McQuillin
- , Yasin Memari
- , Sarah Metrustry
- , Josine Min
- , Alireza Moayyeri
- , James Morris
- , Dawn Muddyman
- , Francesco Muntoni
- , Kate Northstone
- , Michael O’Donovan
- , Stephen O’Rahilly
- , Alexandros Onoufriadis
- , Karim Oualkacha
- , Michael Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , John Perry
- , Olli Pietilainen
- , Vincent Plagnol
- , Michael A. Quail
- , Lydia Quaye
- , Lucy Raymond
- , Karola Rehnström
- , J. Brent Richards
- , Sue Ring
- , Graham R S Ritchie
- , David B. Savage
- , Nadia Schoenmakers
- , Robert K. Semple
- , Eva Serra
- , Hashem Shihab
- , So-Youn Shin
- , David Skuse
- , Kerrin Small
- , Carol Smee
- , Artigas María Soler
- , Nicole Soranzo
- , Lorraine Southam
- , Tim Spector
- , Beate St Pourcain
- , David St. Clair
- , Jim Stalker
- , Gabriela Surdulescu
- , Jaana Suvisaari
- , Ioanna Tachmazidou
- , Jing Tian
- , Nic Timpson
- , Martin Tobin
- , Ana Valdes
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Louise Wain
- , Klaudia Walter
- , Jun Wang
- , Kirsten Ward
- , Ellie Wheeler
- , Ros Whittall
- , Hywel Williams
- , Kathy Williamson
- , Scott G. Wilson
- , Kim Wong
- , Tamieka Whyte
- , Xu ChangJiang
- , Eleftheria Zeggini
- , Feng Zhang
- , Hou-Feng Zheng
- , Philip L. Beales
- , Lihadh Al-Gazali
- , Carol Wicking
- , Valerie Cormier-Daire
- , Ronald Roepman
- , Hannah M. Mitchison
- & George B. Witman
Nature Communications 7 , 1–1

Rights & permissionsfor article Correction: Corrigendum: <i>TCTEX1D2</i> mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport . Opens in a new window.
Research | 10 July 2014
A new acro-osteolysis syndrome caused by duplications including PTHLH
Journal of Human Genetics 59 , 484–487

Rights & permissionsfor article A new acro-osteolysis syndrome caused by duplications including <i>PTHLH</i> . Opens in a new window.
Research | 14 December 2008
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
- Zandra A Jenkins
- , Margriet van Kogelenberg
- , Tim Morgan
- , Aaron Jeffs
- , Ryuji Fukuzawa
- , Esther Pearl
- , Christina Thaller
- , Anne V Hing
- , Mary E Porteous
- , Sixto Garcia-Miñaur
- , Axel Bohring
- , Didier Lacombe
- , Fiona Stewart
- , Torunn Fiskerstrand
- , Laurence Bindoff
- , Siren Berland
- , Lesley C Adès
- , Michel Tchan
- , Albert David
- , Louise C Wilson
- , Raoul C M Hennekam
- , Dian Donnai
- , Sahar Mansour
- , Valérie Cormier-Daire
- & Stephen P Robertson
Nature Genetics 41 , 95–100

Rights & permissionsfor article Germline mutations in <i>WTX</i> cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis . Opens in a new window.
Research | 5 November 2008
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
- Dorien Lugtenberg
- , Tjitske Kleefstra
- , Astrid R Oudakker
- , Willy M Nillesen
- , Helger G Yntema
- , Andreas Tzschach
- , Martine Raynaud
- , Dietz Rating
- , Hubert Journel
- , Jamel Chelly
- , Cyril Goizet
- , Didier Lacombe
- , Jean-Michel Pedespan
- , Bernard Echenne
- , Gholamali Tariverdian
- , Declan O'Rourke
- , Mary D King
- , Andrew Green
- , Margriet van Kogelenberg
- , Hilde Van Esch
- , Jozef Gecz
- , Ben C J Hamel
- , Hans van Bokhoven
- & Arjan P M de Brouwer
European Journal of Human Genetics 17 , 444–453

Rights & permissionsfor article Structural variation in Xq28: <i>MECP2</i> duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy . Opens in a new window.
Research | 21 January 2019 | 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
Nature Communications 10 , 1–16

Rights & permissionsfor article Low-frequency variation in <i>TP53</i> has large effects on head circumference and intracranial volume . Opens in a new window.
Research | 29 June 2017 | 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
Scientific Reports 7 , 1–14

Rights & permissionsfor article Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity . Opens in a new window.
Research | 8 February 2017 | Open
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
- Chiara Olcese
- , Mitali P. Patel
- , Amelia Shoemark
- , Santeri Kiviluoto
- , Marie Legendre
- , Hywel J. Williams
- , Cara K. Vaughan
- , Jane Hayward
- , Alice Goldenberg
- , Richard D. Emes
- , Mustafa M. Munye
- , Laura Dyer
- , Thomas Cahill
- , Jeremy Bevillard
- , Corinne Gehrig
- , Michel Guipponi
- , Sandra Chantot
- , Philippe Duquesnoy
- , Lucie Thomas
- , Ludovic Jeanson
- , Bruno Copin
- , Aline Tamalet
- , Christel Thauvin-Robinet
- , Jean- François Papon
- , Antoine Garin
- , Isabelle Pin
- , Gabriella Vera
- , Paul Aurora
- , Mahmoud R. Fassad
- , Lucy Jenkins
- , Christopher Boustred
- , Thomas Cullup
- , Mellisa Dixon
- , Alexandros Onoufriadis
- , Andrew Bush
- , Eddie M. K. Chung
- , Stylianos E. Antonarakis
- , Michael R. Loebinger
- , Robert Wilson
- , Miguel Armengot
- , Estelle Escudier
- , Claire Hogg
- , Saeed Al-Turki
- , Carl Anderson
- , Dinu Antony
- , Inês Barroso
- , Philip L. Beales
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Keren Carss
- , Krishna Chatterjee
- , Sebahattin Cirak
- , Catherine Cosgrove
- , Daly Allan
- , Richard Durbin
- , David Fitzpatrick
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Steve E. Humphries
- , Matt Hurles
- , Shane McCarthy
- , Dawn Muddyman
- , Francesco Muntoni
- , Victoria Parker
- , Felicity Payne
- , Vincent Plagnol
- , Lucy Raymond
- , David B. Savage
- , Peter J. Scambler
- , Miriam Schmidts
- , Robert Semple
- , Eva Serra
- , Jim Stalker
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Klaudia Walter
- , Serge Amselem
- , Zhaoxia Sun
- , Lucia Bartoloni
- , Jean-Louis Blouin
- & Hannah M. Mitchison
Nature Communications 8 , 1–15

Rights & permissionsfor article X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 . Opens in a new window.
Research | 13 May 2016 | Open
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
- Karsten Boldt
- , Jeroen van Reeuwijk
- , Qianhao Lu
- , Konstantinos Koutroumpas
- , Thanh-Minh T. Nguyen
- , Yves Texier
- , Sylvia E. C. van Beersum
- , Nicola Horn
- , Jason R. Willer
- , Dorus A. Mans
- , Gerard Dougherty
- , Ideke J. C. Lamers
- , Karlien L. M. Coene
- , Heleen H. Arts
- , Matthew J. Betts
- , Tina Beyer
- , Emine Bolat
- , Christian Johannes Gloeckner
- , Khatera Haidari
- , Lisette Hetterschijt
- , Daniela Iaconis
- , Dagan Jenkins
- , Franziska Klose
- , Barbara Knapp
- , Brooke Latour
- , Stef J. F. Letteboer
- , Carlo L. Marcelis
- , Dragana Mitic
- , Manuela Morleo
- , Machteld M. Oud
- , Moniek Riemersma
- , Susan Rix
- , Paulien A. Terhal
- , Grischa Toedt
- , Teunis J. P. van Dam
- , Erik de Vrieze
- , Yasmin Wissinger
- , Ka Man Wu
- , Gordana Apic
- , Philip L. Beales
- , Oliver E. Blacque
- , Toby J. Gibson
- , Martijn A. Huynen
- , Nicholas Katsanis
- , Hannie Kremer
- , Heymut Omran
- , Erwin van Wijk
- , Uwe Wolfrum
- , François Kepes
- , Erica E. Davis
- , Brunella Franco
- , Rachel H. Giles
- , Marius Ueffing
- , Robert B. Russell
- , Ronald Roepman
- , Saeed Al-Turki
- , Carl Anderson
- , Dinu Antony
- , Inês Barroso
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Keren Carss
- , Krishna Chatterjee
- , Sebahattin Cirak
- , Catherine Cosgrove
- , Petr Danecek
- , Richard Durbin
- , David Fitzpatrick
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Steve E. Humphries
- , Matt Hurles
- , Chris Joyce
- , Shane McCarthy
- , Hannah M. Mitchison
- , Dawn Muddyman
- , Francesco Muntoni
- , Stephen O'Rahilly
- , Alexandros Onoufriadis
- , Felicity Payne
- , Vincent Plagnol
- , Lucy Raymond
- , David B. Savage
- , Peter Scambler
- , Miriam Schmidts
- , Nadia Schoenmakers
- , Robert Semple
- , Eva Serra
- , Jim Stalker
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Klaudia Walter
- , Ros Whittall
- & Kathy Williamson
Nature Communications 7 , 1–13

Rights & permissionsfor article An organelle-specific protein landscape identifies novel diseases and molecular mechanisms . Opens in a new window.
Research | 14 September 2015 | 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
Nature 526 , 82–90

Rights & permissionsfor article The UK10K project identifies rare variants in health and disease . Opens in a new window.
Research | 6 March 2015 | 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
Nature Communications 6 , 1–11

Rights & permissionsfor article Whole-genome sequence-based analysis of thyroid function . Opens in a new window.
Research | 14 September 2015 | 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
Nature Communications 6 , 1–9

Rights & permissionsfor article Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel . Opens in a new window.
Research | 16 September 2014 | 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
Nature Communications 5 , 1–11

Rights & permissionsfor article A rare variant in <i>APOC3</i> is associated with plasma triglyceride and VLDL levels in Europeans . Opens in a new window.
Research | 5 June 2015 | Open
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
- Miriam Schmidts
- , Yuqing Hou
- , Claudio R. Cortés
- , Dorus A. Mans
- , Celine Huber
- , Karsten Boldt
- , Mitali Patel
- , Jeroen van Reeuwijk
- , Jean-Marc Plaza
- , Sylvia E. C. van Beersum
- , Zhi Min Yap
- , Stef J. F. Letteboer
- , S. Paige Taylor
- , Warren Herridge
- , Colin A. Johnson
- , Peter J. Scambler
- , Marius Ueffing
- , Hulya Kayserili
- , Deborah Krakow
- , Stephen M. King
- , Philip L. Beales
- , Lihadh Al-Gazali
- , Carol Wicking
- , Valerie Cormier-Daire
- , Ronald Roepman
- , Hannah M. Mitchison
- , George B. Witman
- , Saeed Al-Turki
- , Carl Anderson
- , Richard Anney
- , Dinu Antony
- , Jennifer Asimit
- , Mohammad Ayub
- , Jeff Barrett
- , Inês Barroso
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Douglas Blackwood
- , Martin Bobrow
- , Elena Bochukova
- , Patrick Bolton
- , Chris Boustred
- , Gerome Breen
- , Marie-Jo Brion
- , Andrew Brown
- , Mattia Calissano
- , Keren Carss
- , Krishna Chatterjee
- , Lu Chen
- , Sebhattin Cirak
- , Peter Clapham
- , Gail Clement
- , Guy Coates
- , David Collier
- , Catherine Cosgrove
- , Tony Cox
- , Nick Craddock
- , Lucy Crooks
- , Sarah Curran
- , Allan Daly
- , Petr Danecek
- , George Davey Smith
- , Aaron Day-Williams
- , Ian Day
- , Richard Durbin
- , Sarah Edkins
- , Peter Ellis
- , David Evans
- , I. Sadaf Farooqi
- , Ghazaleh Fatemifar
- , David Fitzpatrick
- , Paul Flicek
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Louise Gallagher
- , Tom Gaunt
- , Daniel Geschwind
- , Celia Greenwood
- , Detelina Grozeva
- , Xiaosen Guo
- , Hugh Gurling
- , Deborah Hart
- , Audrey Hendricks
- , Peter Holmans
- , Jie Huang
- , Steve E. Humphries
- , Matt Hurles
- , Pirro Hysi
- , David Jackson
- , Yalda Jamshidi
- , David Jewell
- , Joyce Chris
- , Jane Kaye
- , Thomas Keane
- , John Kemp
- , Karen Kennedy
- , Alastair Kent
- , Anja Kolb-Kokocinski
- , Genevieve Lachance
- , Cordelia Langford
- , Irene Lee
- , Rui Li
- , Yingrui Li
- , Liu Ryan
- , Jouko Lönnqvist
- , Margarida Lopes
- , Daniel G. MacArthur
- , Mangino Massimo
- , Jonathan Marchini
- , John Maslen
- , Shane McCarthy
- , Peter McGuffin
- , Andrew McIntosh
- , Andrew McKechanie
- , Andrew McQuillin
- , Yasin Memari
- , Sarah Metrustry
- , Josine Min
- , Alireza Moayyeri
- , James Morris
- , Dawn Muddyman
- , Francesco Muntoni
- , Kate Northstone
- , Michael O’Donovan
- , Stephen O’Rahilly
- , Alexandros Onoufriadis
- , Karim Oualkacha
- , Michael Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , John Perry
- , Olli Pietilainen
- , Vincent Plagnol
- , Michael A. Quail
- , Lydia Quaye
- , Lucy Raymond
- , Karola Rehnström
- , J. Brent Richards
- , Sue Ring
- , Graham R S Ritchie
- , David B. Savage
- , Nadia Schoenmakers
- , Robert K. Semple
- , Eva Serra
- , Hashem Shihab
- , So-Youn Shin
- , David Skuse
- , Kerrin Small
- , Carol Smee
- , Artigas María Soler
- , Nicole Soranzo
- , Lorraine Southam
- , Tim Spector
- , Beate St Pourcain
- , David St. Clair
- , Jim Stalker
- , Gabriela Surdulescu
- , Jaana Suvisaari
- , Ioanna Tachmazidou
- , Jing Tian
- , Nic Timpson
- , Martin Tobin
- , Ana Valdes
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Louise Wain
- , Klaudia Walter
- , Jun Wang
- , Kirsten Ward
- , Ellie Wheeler
- , Ros Whittall
- , Hywel Williams
- , Kathy Williamson
- , Scott G. Wilson
- , Kim Wong
- , Tamieka Whyte
- , Xu ChangJiang
- , Eleftheria Zeggini
- , Feng Zhang
- & Hou-Feng Zheng
Nature Communications 6 , 1–14

Rights & permissionsfor article <i>TCTEX1D2</i> mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport . Opens in a new window.

Quick links