Showing 1–11 of 11 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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Research |
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Research | | Open
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Research |
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
- Christel Thauvin-Robinet
- , Jaclyn S Lee
- , Estelle Lopez
- , Vicente Herranz-Pérez
- , Toshinobu Shida
- , Brunella Franco
- , Laurence Jego
- , Fan Ye
- , Laurent Pasquier
- , Philippe Loget
- , Nadège Gigot
- , Bernard Aral
- , Carla A M Lopes
- , Judith St-Onge
- , Ange-Line Bruel
- , Julien Thevenon
- , Susana González-Granero
- , Caroline Alby
- , Arnold Munnich
- , Michel Vekemans
- , Frédéric Huet
- , Andrew M Fry
- , Sophie Saunier
- , Jean-Baptiste Rivière
- , Tania Attié-Bitach
- , Jose Manuel Garcia-Verdugo
- , Laurence Faivre
- , André Mégarbané
- & Maxence V Nachury
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Research | | Open
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
- Albane A. Bizet
- , Anita Becker-Heck
- , Rebecca Ryan
- , Kristina Weber
- , Emilie Filhol
- , Pauline Krug
- , Jan Halbritter
- , Marion Delous
- , Marie-Christine Lasbennes
- , Bolan Linghu
- , Edward J. Oakeley
- , Mohammed Zarhrate
- , Patrick Nitschké
- , Meriem Garfa-Traore
- , Fabrizio Serluca
- , Fan Yang
- , Tewis Bouwmeester
- , Lucile Pinson
- , Elisabeth Cassuto
- , Philippe Dubot
- , Neveen A. Soliman Elshakhs
- , José A. Sahel
- , Rémi Salomon
- , Iain A. Drummond
- , Marie-Claire Gubler
- , Corinne Antignac
- , Salahdine Chibout
- , Joseph D. Szustakowski
- , Friedhelm Hildebrandt
- , Esben Lorentzen
- , Andreas W. Sailer
- , Alexandre Benmerah
- , Pierre Saint-Mezard
- & Sophie Saunier
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Research |
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
- Nils J. Lambacher
- , Ange-Line Bruel
- , Teunis J. P. van Dam
- , Katarzyna Szymańska
- , Gisela G. Slaats
- , Stefanie Kuhns
- , Gavin J. McManus
- , Julie E. Kennedy
- , Karl Gaff
- , Ka Man Wu
- , Robin van der Lee
- , Lydie Burglen
- , Diane Doummar
- , Jean-Baptiste Rivière
- , Laurence Faivre
- , Tania Attié-Bitach
- , Sophie Saunier
- , Alistair Curd
- , Michelle Peckham
- , Rachel H. Giles
- , Colin A. Johnson
- , Martijn A. Huynen
- , Christel Thauvin-Robinet
- & Oliver E. Blacque
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Research |
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
- Sylvia Hoff
- , Jan Halbritter
- , Daniel Epting
- , Valeska Frank
- , Thanh-Minh T Nguyen
- , Jeroen van Reeuwijk
- , Christopher Boehlke
- , Christoph Schell
- , Takayuki Yasunaga
- , Martin Helmstädter
- , Miriam Mergen
- , Emilie Filhol
- , Karsten Boldt
- , Nicola Horn
- , Marius Ueffing
- , Edgar A Otto
- , Tobias Eisenberger
- , Mariet W Elting
- , Joanna A E van Wijk
- , Detlef Bockenhauer
- , Neil J Sebire
- , Søren Rittig
- , Mogens Vyberg
- , Troels Ring
- , Martin Pohl
- , Lars Pape
- , Thomas J Neuhaus
- , Neveen A Soliman Elshakhs
- , Sarah J Koon
- , Peter C Harris
- , Florian Grahammer
- , Tobias B Huber
- , E Wolfgang Kuehn
- , Albrecht Kramer-Zucker
- , Hanno J Bolz
- , Ronald Roepman
- , Sophie Saunier
- , Gerd Walz
- , Friedhelm Hildebrandt
- , Carsten Bergmann
- & Soeren S Lienkamp
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Research |
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
- Enza Maria Valente
- , Clare V Logan
- , Soumaya Mougou-Zerelli
- , Jeong Ho Lee
- , Jennifer L Silhavy
- , Francesco Brancati
- , Miriam Iannicelli
- , Lorena Travaglini
- , Sveva Romani
- , Barbara Illi
- , Matthew Adams
- , Katarzyna Szymanska
- , Annalisa Mazzotta
- , Ji Eun Lee
- , Jerlyn C Tolentino
- , Dominika Swistun
- , Carmelo D Salpietro
- , Carmelo Fede
- , Stacey Gabriel
- , Carsten Russ
- , Kristian Cibulskis
- , Carrie Sougnez
- , Friedhelm Hildebrandt
- , Edgar A Otto
- , Susanne Held
- , Bill H Diplas
- , Erica E Davis
- , Mario Mikula
- , Charles M Strom
- , Bruria Ben-Zeev
- , Dorit Lev
- , Tally Lerman Sagie
- , Marina Michelson
- , Yuval Yaron
- , Amanda Krause
- , Eugen Boltshauser
- , Nadia Elkhartoufi
- , Joelle Roume
- , Stavit Shalev
- , Arnold Munnich
- , Sophie Saunier
- , Chris Inglehearn
- , Ali Saad
- , Adila Alkindy
- , Sophie Thomas
- , Michel Vekemans
- , Bruno Dallapiccola
- , Nicholas Katsanis
- , Colin A Johnson
- , Tania Attié-Bitach
- & Joseph G Gleeson
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Research |
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
- Marion Delous
- , Lekbir Baala
- , Rémi Salomon
- , Christine Laclef
- , Jeanette Vierkotten
- , Kàlmàn Tory
- , Christelle Golzio
- , Tiphanie Lacoste
- , Laurianne Besse
- , Catherine Ozilou
- , Imane Moutkine
- , Nathan E Hellman
- , Isabelle Anselme
- , Flora Silbermann
- , Christine Vesque
- , Christoph Gerhardt
- , Eleanor Rattenberry
- , Matthias T F Wolf
- , Marie Claire Gubler
- , Jéléna Martinovic
- , Féréchté Encha-Razavi
- , Nathalie Boddaert
- , Marie Gonzales
- , Marie Alice Macher
- , Hubert Nivet
- , Gérard Champion
- , Jean Pierre Berthélémé
- , Patrick Niaudet
- , Fiona McDonald
- , Friedhelm Hildebrandt
- , Colin A Johnson
- , Michel Vekemans
- , Corinne Antignac
- , Ulrich Rüther
- , Sylvie Schneider-Maunoury
- , Tania Attié-Bitach
- & Sophie Saunier
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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
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Research |
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
- Edgar A Otto
- , Toby W Hurd
- , Rannar Airik
- , Moumita Chaki
- , Weibin Zhou
- , Corinne Stoetzel
- , Suresh B Patil
- , Shawn Levy
- , Amiya K Ghosh
- , Carlos A Murga-Zamalloa
- , Jeroen van Reeuwijk
- , Stef J F Letteboer
- , Liyun Sang
- , Rachel H Giles
- , Qin Liu
- , Karlien L M Coene
- , Alejandro Estrada-Cuzcano
- , Rob W J Collin
- , Heather M McLaughlin
- , Susanne Held
- , Jennifer M Kasanuki
- , Gokul Ramaswami
- , Jinny Conte
- , Irma Lopez
- , Joseph Washburn
- , James MacDonald
- , Jinghua Hu
- , Yukiko Yamashita
- , Eamonn R Maher
- , Lisa M Guay-Woodford
- , Hartmut P H Neumann
- , Nicholas Obermüller
- , Robert K Koenekoop
- , Carsten Bergmann
- , Xiaoshu Bei
- , Richard A Lewis
- , Nicholas Katsanis
- , Vanda Lopes
- , David S Williams
- , Robert H Lyons
- , Chi V Dang
- , Daniela A Brito
- , Mónica Bettencourt Dias
- , Xinmin Zhang
- , James D Cavalcoli
- , Gudrun Nürnberg
- , Peter Nürnberg
- , Eric A Pierce
- , Peter K Jackson
- , Corinne Antignac
- , Sophie Saunier
- , Ronald Roepman
- , Helene Dollfus
- , Hemant Khanna
- & Friedhelm Hildebrandt
