Showing 1–19 of 19 results
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Amendments and Corrections |
Correction: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
- Erica E Davis
- , Qi Zhang
- , Qin Liu
- , Bill H Diplas
- , Lisa M Davey
- , Jane Hartley
- , Corinne Stoetzel
- , Katarzyna Szymanska
- , Gokul Ramaswami
- , Clare V Logan
- , Donna M Muzny
- , Alice C Young
- , David A Wheeler
- , Pedro Cruz
- , Margaret Morgan
- , Lora R Lewis
- , Praveen Cherukuri
- , Baishali Maskeri
- , Nancy F Hansen
- , James C Mullikin
- , Robert W Blakesley
- , Gerard G Bouffard
- , Gabor Gyapay
- , Susanne Rieger
- , Burkhard Tönshoff
- , Ilse Kern
- , Neveen A Soliman
- , Thomas J Neuhaus
- , Kathryn J Swoboda
- , Hulya Kayserili
- , Tomas E Gallagher
- , Richard A Lewis
- , Carsten Bergmann
- , Edgar A Otto
- , Sophie Saunier
- , Peter J Scambler
- , Philip L Beales
- , Joseph G Gleeson
- , Eamonn R Maher
- , Tania Attié-Bitach
- , Hélène Dollfus
- , Colin A Johnson
- , Eric D Green
- , Richard A Gibbs
- , Friedhelm Hildebrandt
- , Eric A Pierce
- & Nicholas Katsanis
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News and Views |
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Amendments and Corrections | | Open
Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
- Miriam Schmidts
- , Yuqing Hou
- , Claudio R. Cortés
- , Dorus A. Mans
- , Celine Huber
- , Karsten Boldt
- , Mitali Patel
- , Jeroen van Reeuwijk
- , Jean-Marc Plaza
- , Sylvia E. C. van Beersum
- , Zhi Min Yap
- , Stef J. F. Letteboer
- , S. Paige Taylor
- , Warren Herridge
- , Colin A. Johnson
- , Peter J. Scambler
- , Marius Ueffing
- , Hulya Kayserili
- , Deborah Krakow
- , Stephen M. King
- , Saeed Al-Turki
- , Carl Anderson
- , Richard Anney
- , Dinu Antony
- , Jennifer Asimit
- , Mohammad Ayub
- , Jeff Barrett
- , Inês Barroso
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Douglas Blackwood
- , Martin Bobrow
- , Elena Bochukova
- , Patrick Bolton
- , Chris Boustred
- , Gerome Breen
- , Marie-Jo Brion
- , Andrew Brown
- , Mattia Calissano
- , Keren Carss
- , Krishna Chatterjee
- , Lu Chen
- , Sebhattin Cirak
- , Peter Clapham
- , Gail Clement
- , Guy Coates
- , David Collier
- , Catherine Cosgrove
- , Tony Cox
- , Nick Craddock
- , Lucy Crooks
- , Sarah Curran
- , Allan Daly
- , Petr Danecek
- , George Davey Smith
- , Aaron Day-Williams
- , Ian Day
- , Richard Durbin
- , Sarah Edkins
- , Peter Ellis
- , David Evans
- , I. Sadaf Farooqi
- , Ghazaleh Fatemifar
- , David Fitzpatrick
- , Paul Flicek
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Louise Gallagher
- , Tom Gaunt
- , Daniel Geschwind
- , Celia Greenwood
- , Detelina Grozeva
- , Xiaosen Guo
- , Hugh Gurling
- , Deborah Hart
- , Audrey Hendricks
- , Peter Holmans
- , Jie Huang
- , Steve E. Humphries
- , Matt Hurles
- , Pirro Hysi
- , David Jackson
- , Yalda Jamshidi
- , David Jewell
- , Joyce Chris
- , Jane Kaye
- , Thomas Keane
- , John Kemp
- , Karen Kennedy
- , Alastair Kent
- , Anja Kolb-Kokocinski
- , Genevieve Lachance
- , Cordelia Langford
- , Irene Lee
- , Rui Li
- , Yingrui Li
- , Liu Ryan
- , Jouko Lönnqvist
- , Margarida Lopes
- , Daniel G. MacArthur
- , Mangino Massimo
- , Jonathan Marchini
- , John Maslen
- , Shane McCarthy
- , Peter McGuffin
- , Andrew McIntosh
- , Andrew McKechanie
- , Andrew McQuillin
- , Yasin Memari
- , Sarah Metrustry
- , Josine Min
- , Alireza Moayyeri
- , James Morris
- , Dawn Muddyman
- , Francesco Muntoni
- , Kate Northstone
- , Michael O’Donovan
- , Stephen O’Rahilly
- , Alexandros Onoufriadis
- , Karim Oualkacha
- , Michael Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , John Perry
- , Olli Pietilainen
- , Vincent Plagnol
- , Michael A. Quail
- , Lydia Quaye
- , Lucy Raymond
- , Karola Rehnström
- , J. Brent Richards
- , Sue Ring
- , Graham R S Ritchie
- , David B. Savage
- , Nadia Schoenmakers
- , Robert K. Semple
- , Eva Serra
- , Hashem Shihab
- , So-Youn Shin
- , David Skuse
- , Kerrin Small
- , Carol Smee
- , Artigas María Soler
- , Nicole Soranzo
- , Lorraine Southam
- , Tim Spector
- , Beate St Pourcain
- , David St. Clair
- , Jim Stalker
- , Gabriela Surdulescu
- , Jaana Suvisaari
- , Ioanna Tachmazidou
- , Jing Tian
- , Nic Timpson
- , Martin Tobin
- , Ana Valdes
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Louise Wain
- , Klaudia Walter
- , Jun Wang
- , Kirsten Ward
- , Ellie Wheeler
- , Ros Whittall
- , Hywel Williams
- , Kathy Williamson
- , Scott G. Wilson
- , Kim Wong
- , Tamieka Whyte
- , Xu ChangJiang
- , Eleftheria Zeggini
- , Feng Zhang
- , Hou-Feng Zheng
- , Philip L. Beales
- , Lihadh Al-Gazali
- , Carol Wicking
- , Valerie Cormier-Daire
- , Ronald Roepman
- , Hannah M. Mitchison
- & George B. Witman
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Research |
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Research |
Identification of mutations in CUL7 in 3-M syndrome
- Céline Huber
- , Dora Dias-Santagata
- , Anna Glaser
- , James O'Sullivan
- , Raja Brauner
- , Kenneth Wu
- , Xinsong Xu
- , Kerra Pearce
- , Rong Wang
- , Maria Luisa Giovannucci Uzielli
- , Nathalie Dagoneau
- , Wassim Chemaitilly
- , Andrea Superti-Furga
- , Heloisa Dos Santos
- , André Mégarbané
- , Gilles Morin
- , Gabriele Gillessen-Kaesbach
- , Raoul Hennekam
- , Ineke Van der Burgt
- , Graeme C M Black
- , Peter E Clayton
- , Andrew Read
- , Martine Le Merrer
- , Peter J Scambler
- , Arnold Munnich
- , Zhen-Qiang Pan
- , Robin Winter
- & Valérie Cormier-Daire
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Research |
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Research |
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Research |
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Research |
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Research |
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Research |
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
- Lesley McGregor
- , Ville Makela
- , Susan M Darling
- , Sofia Vrontou
- , Georges Chalepakis
- , Catherine Roberts
- , Nicola Smart
- , Paul Rutland
- , Natalie Prescott
- , Jason Hopkins
- , Elizabeth Bentley
- , Alison Shaw
- , Emma Roberts
- , Robert Mueller
- , Shalini Jadeja
- , Nicole Philip
- , John Nelson
- , Christine Francannet
- , Antonio Perez-Aytes
- , Andre Megarbane
- , Bronwyn Kerr
- , Brandon Wainwright
- , Adrian S Woolf
- , Robin M Winter
- & Peter J Scambler
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Research |
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Research |
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Research |
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Research | | Open
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
- Chiara Olcese
- , Mitali P. Patel
- , Amelia Shoemark
- , Santeri Kiviluoto
- , Marie Legendre
- , Hywel J. Williams
- , Cara K. Vaughan
- , Jane Hayward
- , Alice Goldenberg
- , Richard D. Emes
- , Mustafa M. Munye
- , Laura Dyer
- , Thomas Cahill
- , Jeremy Bevillard
- , Corinne Gehrig
- , Michel Guipponi
- , Sandra Chantot
- , Philippe Duquesnoy
- , Lucie Thomas
- , Ludovic Jeanson
- , Bruno Copin
- , Aline Tamalet
- , Christel Thauvin-Robinet
- , Jean- François Papon
- , Antoine Garin
- , Isabelle Pin
- , Gabriella Vera
- , Paul Aurora
- , Mahmoud R. Fassad
- , Lucy Jenkins
- , Christopher Boustred
- , Thomas Cullup
- , Mellisa Dixon
- , Alexandros Onoufriadis
- , Andrew Bush
- , Eddie M. K. Chung
- , Stylianos E. Antonarakis
- , Michael R. Loebinger
- , Robert Wilson
- , Miguel Armengot
- , Estelle Escudier
- , Claire Hogg
- , Saeed Al-Turki
- , Carl Anderson
- , Dinu Antony
- , Inês Barroso
- , Philip L. Beales
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Keren Carss
- , Krishna Chatterjee
- , Sebahattin Cirak
- , Catherine Cosgrove
- , Daly Allan
- , Richard Durbin
- , David Fitzpatrick
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Steve E. Humphries
- , Matt Hurles
- , Shane McCarthy
- , Dawn Muddyman
- , Francesco Muntoni
- , Victoria Parker
- , Felicity Payne
- , Vincent Plagnol
- , Lucy Raymond
- , David B. Savage
- , Peter J. Scambler
- , Miriam Schmidts
- , Robert Semple
- , Eva Serra
- , Jim Stalker
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Klaudia Walter
- , Serge Amselem
- , Zhaoxia Sun
- , Lucia Bartoloni
- , Jean-Louis Blouin
- & Hannah M. Mitchison
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Reviews |
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Research | | Open
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
- Miriam Schmidts
- , Yuqing Hou
- , Claudio R. Cortés
- , Dorus A. Mans
- , Celine Huber
- , Karsten Boldt
- , Mitali Patel
- , Jeroen van Reeuwijk
- , Jean-Marc Plaza
- , Sylvia E. C. van Beersum
- , Zhi Min Yap
- , Stef J. F. Letteboer
- , S. Paige Taylor
- , Warren Herridge
- , Colin A. Johnson
- , Peter J. Scambler
- , Marius Ueffing
- , Hulya Kayserili
- , Deborah Krakow
- , Stephen M. King
- , Philip L. Beales
- , Lihadh Al-Gazali
- , Carol Wicking
- , Valerie Cormier-Daire
- , Ronald Roepman
- , Hannah M. Mitchison
- , George B. Witman
- , Saeed Al-Turki
- , Carl Anderson
- , Richard Anney
- , Dinu Antony
- , Jennifer Asimit
- , Mohammad Ayub
- , Jeff Barrett
- , Inês Barroso
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Douglas Blackwood
- , Martin Bobrow
- , Elena Bochukova
- , Patrick Bolton
- , Chris Boustred
- , Gerome Breen
- , Marie-Jo Brion
- , Andrew Brown
- , Mattia Calissano
- , Keren Carss
- , Krishna Chatterjee
- , Lu Chen
- , Sebhattin Cirak
- , Peter Clapham
- , Gail Clement
- , Guy Coates
- , David Collier
- , Catherine Cosgrove
- , Tony Cox
- , Nick Craddock
- , Lucy Crooks
- , Sarah Curran
- , Allan Daly
- , Petr Danecek
- , George Davey Smith
- , Aaron Day-Williams
- , Ian Day
- , Richard Durbin
- , Sarah Edkins
- , Peter Ellis
- , David Evans
- , I. Sadaf Farooqi
- , Ghazaleh Fatemifar
- , David Fitzpatrick
- , Paul Flicek
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Louise Gallagher
- , Tom Gaunt
- , Daniel Geschwind
- , Celia Greenwood
- , Detelina Grozeva
- , Xiaosen Guo
- , Hugh Gurling
- , Deborah Hart
- , Audrey Hendricks
- , Peter Holmans
- , Jie Huang
- , Steve E. Humphries
- , Matt Hurles
- , Pirro Hysi
- , David Jackson
- , Yalda Jamshidi
- , David Jewell
- , Joyce Chris
- , Jane Kaye
- , Thomas Keane
- , John Kemp
- , Karen Kennedy
- , Alastair Kent
- , Anja Kolb-Kokocinski
- , Genevieve Lachance
- , Cordelia Langford
- , Irene Lee
- , Rui Li
- , Yingrui Li
- , Liu Ryan
- , Jouko Lönnqvist
- , Margarida Lopes
- , Daniel G. MacArthur
- , Mangino Massimo
- , Jonathan Marchini
- , John Maslen
- , Shane McCarthy
- , Peter McGuffin
- , Andrew McIntosh
- , Andrew McKechanie
- , Andrew McQuillin
- , Yasin Memari
- , Sarah Metrustry
- , Josine Min
- , Alireza Moayyeri
- , James Morris
- , Dawn Muddyman
- , Francesco Muntoni
- , Kate Northstone
- , Michael O’Donovan
- , Stephen O’Rahilly
- , Alexandros Onoufriadis
- , Karim Oualkacha
- , Michael Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , John Perry
- , Olli Pietilainen
- , Vincent Plagnol
- , Michael A. Quail
- , Lydia Quaye
- , Lucy Raymond
- , Karola Rehnström
- , J. Brent Richards
- , Sue Ring
- , Graham R S Ritchie
- , David B. Savage
- , Nadia Schoenmakers
- , Robert K. Semple
- , Eva Serra
- , Hashem Shihab
- , So-Youn Shin
- , David Skuse
- , Kerrin Small
- , Carol Smee
- , Artigas María Soler
- , Nicole Soranzo
- , Lorraine Southam
- , Tim Spector
- , Beate St Pourcain
- , David St. Clair
- , Jim Stalker
- , Gabriela Surdulescu
- , Jaana Suvisaari
- , Ioanna Tachmazidou
- , Jing Tian
- , Nic Timpson
- , Martin Tobin
- , Ana Valdes
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Louise Wain
- , Klaudia Walter
- , Jun Wang
- , Kirsten Ward
- , Ellie Wheeler
- , Ros Whittall
- , Hywel Williams
- , Kathy Williamson
- , Scott G. Wilson
- , Kim Wong
- , Tamieka Whyte
- , Xu ChangJiang
- , Eleftheria Zeggini
- , Feng Zhang
- & Hou-Feng Zheng
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Research |
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
- Erica E Davis
- , Qi Zhang
- , Qin Liu
- , Bill H Diplas
- , Lisa M Davey
- , Jane Hartley
- , Corinne Stoetzel
- , Katarzyna Szymanska
- , Gokul Ramaswami
- , Clare V Logan
- , Donna M Muzny
- , Alice C Young
- , David A Wheeler
- , Pedro Cruz
- , Margaret Morgan
- , Lora R Lewis
- , Praveen Cherukuri
- , Baishali Maskeri
- , Nancy F Hansen
- , James C Mullikin
- , Robert W Blakesley
- , Gerard G Bouffard
- , Gabor Gyapay
- , Susanne Rieger
- , Burkhard Tönshoff
- , Ilse Kern
- , Neveen A Soliman
- , Thomas J Neuhaus
- , Kathryn J Swoboda
- , Hulya Kayserili
- , Tomas E Gallagher
- , Richard A Lewis
- , Carsten Bergmann
- , Edgar A Otto
- , Sophie Saunier
- , Peter J Scambler
- , Philip L Beales
- , Joseph G Gleeson
- , Eamonn R Maher
- , Tania Attié-Bitach
- , Hélène Dollfus
- , Colin A Johnson
- , Eric D Green
- , Richard A Gibbs
- , Friedhelm Hildebrandt
- , Eric A Pierce
- & Nicholas Katsanis
