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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 | | Open
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
- Karsten Boldt
- , Jeroen van Reeuwijk
- , Qianhao Lu
- , Konstantinos Koutroumpas
- , Thanh-Minh T. Nguyen
- , Yves Texier
- , Sylvia E. C. van Beersum
- , Nicola Horn
- , Jason R. Willer
- , Dorus A. Mans
- , Gerard Dougherty
- , Ideke J. C. Lamers
- , Karlien L. M. Coene
- , Heleen H. Arts
- , Matthew J. Betts
- , Tina Beyer
- , Emine Bolat
- , Christian Johannes Gloeckner
- , Khatera Haidari
- , Lisette Hetterschijt
- , Daniela Iaconis
- , Dagan Jenkins
- , Franziska Klose
- , Barbara Knapp
- , Brooke Latour
- , Stef J. F. Letteboer
- , Carlo L. Marcelis
- , Dragana Mitic
- , Manuela Morleo
- , Machteld M. Oud
- , Moniek Riemersma
- , Susan Rix
- , Paulien A. Terhal
- , Grischa Toedt
- , Teunis J. P. van Dam
- , Erik de Vrieze
- , Yasmin Wissinger
- , Ka Man Wu
- , Gordana Apic
- , Philip L. Beales
- , Oliver E. Blacque
- , Toby J. Gibson
- , Martijn A. Huynen
- , Nicholas Katsanis
- , Hannie Kremer
- , Heymut Omran
- , Erwin van Wijk
- , Uwe Wolfrum
- , François Kepes
- , Erica E. Davis
- , Brunella Franco
- , Rachel H. Giles
- , Marius Ueffing
- , Robert B. Russell
- , Ronald Roepman
- , Saeed Al-Turki
- , Carl Anderson
- , Dinu Antony
- , Inês Barroso
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Keren Carss
- , Krishna Chatterjee
- , Sebahattin Cirak
- , Catherine Cosgrove
- , Petr Danecek
- , Richard Durbin
- , David Fitzpatrick
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Steve E. Humphries
- , Matt Hurles
- , Chris Joyce
- , Shane McCarthy
- , Hannah M. Mitchison
- , Dawn Muddyman
- , Francesco Muntoni
- , Stephen O'Rahilly
- , Alexandros Onoufriadis
- , Felicity Payne
- , Vincent Plagnol
- , Lucy Raymond
- , David B. Savage
- , Peter Scambler
- , Miriam Schmidts
- , Nadia Schoenmakers
- , Robert Semple
- , Eva Serra
- , Jim Stalker
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Klaudia Walter
- , Ros Whittall
- & Kathy Williamson
-
Research | | Open
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
-
Research |
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
- Anneke I den Hollander
- , Robert K Koenekoop
- , Moin D Mohamed
- , Heleen H Arts
- , Karsten Boldt
- , Katherine V Towns
- , Tina Sedmak
- , Monika Beer
- , Kerstin Nagel-Wolfrum
- , Martin McKibbin
- , Sharola Dharmaraj
- , Irma Lopez
- , Lenka Ivings
- , Grange A Williams
- , Kelly Springell
- , C Geoff Woods
- , Hussain Jafri
- , Yasmin Rashid
- , Tim M Strom
- , Bert van der Zwaag
- , Ilse Gosens
- , Ferry F J Kersten
- , Erwin van Wijk
- , Joris A Veltman
- , Marijke N Zonneveld
- , Sylvia E C van Beersum
- , Irene H Maumenee
- , Uwe Wolfrum
- , Michael E Cheetham
- , Marius Ueffing
- , Frans P M Cremers
- , Chris F Inglehearn
- & Ronald Roepman
-
Research |
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
- Heleen H Arts
- , Dan Doherty
- , Sylvia E C van Beersum
- , Melissa A Parisi
- , Stef J F Letteboer
- , Nicholas T Gorden
- , Theo A Peters
- , Tina Märker
- , Krysta Voesenek
- , Aileen Kartono
- , Hamit Ozyurek
- , Federico M Farin
- , Hester Y Kroes
- , Uwe Wolfrum
- , Han G Brunner
- , Frans P M Cremers
- , Ian A Glass
- , Nine V A M Knoers
- & Ronald Roepman
