Showing 1–33 of 33 results
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Research |
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy
- Maria Kousi
- , Onuralp Söylemez
- , Aysegül Ozanturk
- , Niki Mourtzi
- , Sebastian Akle
- , Irwin Jungreis
- , Jean Muller
- , Christopher A. Cassa
- , Harrison Brand
- , Jill Anne Mokry
- , Maxim Y. Wolf
- , Azita Sadeghpour
- , Kelsey McFadden
- , Richard A. Lewis
- , Michael E. Talkowski
- , Hélène Dollfus
- , Manolis Kellis
- , Erica E. Davis
- , Shamil R. Sunyaev
- & Nicholas Katsanis
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Editorial |
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Amendments and Corrections |
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Research |
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
- Henri Margot
- , Guilaine Boursier
- , Claire Duflos
- , Elodie Sanchez
- , Jeanne Amiel
- , Jean-Christophe Andrau
- , Stéphanie Arpin
- , Elise Brischoux-Boucher
- , Odile Boute
- , Lydie Burglen
- , Charlotte Caille
- , Yline Capri
- , Patrick Collignon
- , Solène Conrad
- , Valérie Cormier-Daire
- , Geoffroy Delplancq
- , Klaus Dieterich
- , Hélène Dollfus
- , Mélanie Fradin
- , Laurence Faivre
- , Helder Fernandes
- , Christine Francannet
- , Vincent Gatinois
- , Marion Gerard
- , Alice Goldenberg
- , Jamal Ghoumid
- , Sarah Grotto
- , Anne-Marie Guerrot
- , Agnès Guichet
- , Bertrand Isidor
- , Marie-Line Jacquemont
- , Sophie Julia
- , Philippe Khau Van Kien
- , Marine Legendre
- , K. H. Le Quan Sang
- , Bruno Leheup
- , Stanislas Lyonnet
- , Virginie Magry
- , Sylvie Manouvrier
- , Dominique Martin
- , Godelieve Morel
- , Arnold Munnich
- , Sophie Naudion
- , Sylvie Odent
- , Laurence Perrin
- , Florence Petit
- , Nicole Philip
- , Marlène Rio
- , Julie Robbe
- , Massimiliano Rossi
- , Elisabeth Sarrazin
- , Annick Toutain
- , Julien Van Gils
- , Gabriella Vera
- , Alain Verloes
- , Sacha Weber
- , Sandra Whalen
- , Damien Sanlaville
- , Didier Lacombe
- , Nathalie Aladjidi
- & David Geneviève
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Research |
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Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes
- Sandy Léger
- , Xavier Balguerie
- , Alice Goldenberg
- , Valérie Drouin-Garraud
- , Annick Cabot
- , Isabelle Amstutz-Montadert
- , Paul Young
- , Pascal Joly
- , Virginie Bodereau
- , Muriel Holder-Espinasse
- , Robyn V Jamieson
- , Amanda Krause
- , Hongsheng Chen
- , Clarisse Baumann
- , Luis Nunes
- , Hélène Dollfus
- , Michel Goossens
- & Véronique Pingault
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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 |
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Amendments and Corrections |
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
- Kristien P Hoornaert
- , Inge Vereecke
- , Chantal Dewinter
- , Thomas Rosenberg
- , Frits A Beemer
- , Jules G Leroy
- , Laila Bendix
- , Erik Björck
- , Maryse Bonduelle
- , Odile Boute
- , Valerie Cormier-Daire
- , Christine De Die-Smulders
- , Anne Dieux-Coeslier
- , Hélène Dollfus
- , Mariet Elting
- , Andrew Green
- , Veronica I Guerci
- , Raoul CM Hennekam
- , Yvonne Hilhorts-Hofstee
- , Muriel Holder
- , Carel Hoyng
- , Kristi J Jones
- , Dragana Josifova
- , Ilkka Kaitila
- , Suzanne Kjaergaard
- , Yolande H Kroes
- , Kristina Lagerstedt
- , Melissa Lees
- , Martine LeMerrer
- , Cinzia Magnani
- , Carlo Marcelis
- , Loreto Martorell
- , Michèle Mathieu
- , Meriel McEntagart
- , Angela Mendicino
- , Jenny Morton
- , Gabrielli Orazio
- , Véronique Paquis
- , Orit Reish
- , Kalle OJ Simola
- , Sarah F Smithson
- , Karen I Temple
- , Elisabeth Van Aken
- , Yolande Van Bever
- , Jenneke van den Ende
- , Johanna M Van Hagen
- , Leopoldo Zelante
- , Riina Zordania
- , Anne De Paepe
- , Bart P Leroy
- , Marc De Buyzere
- , Paul J Coucke
- & Geert R Mortier
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Research |
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip
- Marianne Lévêque
- , Sandrine Marlin
- , Laurence Jonard
- , Vincent Procaccio
- , Pascal Reynier
- , Patrizia Amati-Bonneau
- , Sylvain Baulande
- , Denis Pierron
- , Didier Lacombe
- , Françoise Duriez
- , Christine Francannet
- , Thierry Mom
- , Hubert Journel
- , Hélène Catros
- , Valérie Drouin-Garraud
- , Marie-Françoise Obstoy
- , Hélène Dollfus
- , Marie-Madeleine Eliot
- , Laurence Faivre
- , Christian Duvillard
- , Remy Couderc
- , Eréa-Noël Garabedian
- , Christine Petit
- , Delphine Feldmann
- & Françoise Denoyelle
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Research |
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
- Sébastien Albert
- , Hélène Blons
- , Laurence Jonard
- , Delphine Feldmann
- , Pierre Chauvin
- , Nathalie Loundon
- , Annie Sergent-Allaoui
- , Muriel Houang
- , Alain Joannard
- , Sébastien Schmerber
- , Bruno Delobel
- , Jacques Leman
- , Hubert Journel
- , Hélène Catros
- , Hélène Dollfus
- , Marie-Madeleine Eliot
- , Albert David
- , Catherine Calais
- , Valérie Drouin-Garraud
- , Marie-Françoise Obstoy
- , Patrice Tran Ba Huy
- , Didier Lacombe
- , Françoise Duriez
- , Christine Francannet
- , Pierre Bitoun
- , Christine Petit
- , Eréa-Noël Garabédian
- , Rémy Couderc
- , Sandrine Marlin
- & Françoise Denoyelle
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Research |
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Research |
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
- Susanne Kohl
- , Balazs Varsanyi
- , Gesine Abadin Antunes
- , Britta Baumann
- , Carel B Hoyng
- , Herbert Jägle
- , Thomas Rosenberg
- , Ulrich Kellner
- , Birgit Lorenz
- , Roberto Salati
- , Bernhard Jurklies
- , Agnes Farkas
- , Sten Andreasson
- , Richard G Weleber
- , Samuel G Jacobson
- , Günther Rudolph
- , Claudio Castellan
- , Helene Dollfus
- , Eric Legius
- , Mario Anastasi
- , Pierre Bitoun
- , Dorit Lev
- , Paul A Sieving
- , Francis L Munier
- , Eberhart Zrenner
- , Lindsay T Sharpe
- , Frans P M Cremers
- & Bernd Wissinger
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Research |
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
- Ersan Kalay
- , Gökhan Yigit
- , Yakup Aslan
- , Karen E Brown
- , Esther Pohl
- , Louise S Bicknell
- , Hülya Kayserili
- , Yun Li
- , Beyhan Tüysüz
- , Gudrun Nürnberg
- , Wieland Kiess
- , Manfred Koegl
- , Ingelore Baessmann
- , Kurtulus Buruk
- , Bayram Toraman
- , Saadettin Kayipmaz
- , Sibel Kul
- , Mevlit Ikbal
- , Daniel J Turner
- , Martin S Taylor
- , Jan Aerts
- , Carol Scott
- , Karen Milstein
- , Helene Dollfus
- , Dagmar Wieczorek
- , Han G Brunner
- , Matthew Hurles
- , Andrew P Jackson
- , Anita Rauch
- , Peter Nürnberg
- , Ahmet Karagüzel
- & Bernd Wollnik
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Research |
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Research |
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Amendments and Corrections |
Correction: Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
- Corinne Stoetzel
- , Virginie Laurier
- , Erica E Davis
- , Jean Muller
- , Suzanne Rix
- , José L Badano
- , Carmen C Leitch
- , Nabiha Salem
- , Eliane Chouery
- , Sandra Corbani
- , Nadine Jalk
- , Serge Vicaire
- , Pierre Sarda
- , Christian Hamel
- , Didier Lacombe
- , Muriel Holder
- , Sylvie Odent
- , Susan Holder
- , Alice S Brooks
- , Nursel H Elcioglu
- , Eduardo D Silva
- , Béatrice Rossillion
- , Sabine Sigaudy
- , Thomy J L de Ravel
- , Richard Alan Lewis
- , Bruno Leheup
- , Alain Verloes
- , Patrizia Amati-Bonneau
- , André Mégarbané
- , Olivier Poch
- , Dominique Bonneau
- , Philip L Beales
- , Jean-Louis Mandel
- , Nicholas Katsanis
- & Hélène Dollfus
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Research |
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
- Isabelle Perrault
- , Sylvain Hanein
- , Xavier Zanlonghi
- , Valérie Serre
- , Michael Nicouleau
- , Sabine Defoort-Delhemmes
- , Nathalie Delphin
- , Lucas Fares-Taie
- , Sylvie Gerber
- , Olivia Xerri
- , Catherine Edelson
- , Alice Goldenberg
- , Alice Duncombe
- , Gylène Le Meur
- , Christian Hamel
- , Eduardo Silva
- , Patrick Nitschke
- , Patrick Calvas
- , Arnold Munnich
- , Olivier Roche
- , Hélène Dollfus
- , Josseline Kaplan
- & Jean-Michel Rozet
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Research |
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Research |
Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort
- Haifa Hichri
- , Corinne Stoetzel
- , Virginie Laurier
- , Solenne Caron
- , Sabine Sigaudy
- , Pierre Sarda
- , Christian Hamel
- , Dominique Martin-Coignard
- , Morin Gilles
- , Bruno Leheup
- , Mureille Holder
- , Josseline Kaplan
- , Pierre Bitoun
- , Didier Lacombe
- , Alain Verloes
- , Dominique Bonneau
- , Fabienne Perrin-Schmitt
- , Christian Brandt
- , Anne-Françoise Besancon
- , Jean-Louis Mandel
- , Mireille Cossée
- & Hélène Dollfus
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Research |
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
- Corinne Stoetzel
- , Virginie Laurier
- , Erica E Davis
- , Jean Muller
- , Suzanne Rix
- , José L Badano
- , Carmen C Leitch
- , Nabiha Salem
- , Eliane Chouery
- , Sandra Corbani
- , Nadine Jalk
- , Serge Vicaire
- , Pierre Sarda
- , Christian Hamel
- , Didier Lacombe
- , Muriel Holder
- , Sylvie Odent
- , Susan Holder
- , Alice S Brooks
- , Nursel H Elcioglu
- , Eduardo D Silva
- , Béatrice Rossillion
- , Sabine Sigaudy
- , Thomy J L de Ravel
- , Richard Alan Lewis
- , Bruno Leheup
- , Alain Verloes
- , Patrizia Amati-Bonneau
- , André Mégarbané
- , Olivier Poch
- , Dominique Bonneau
- , Philip L Beales
- , Jean-Louis Mandel
- , Nicholas Katsanis
- & Hélène Dollfus
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Research |
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Research | | Open
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Research |
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
- Salima El Chehadeh
- , Wilhelmina S Kerstjens-Frederikse
- , Julien Thevenon
- , Paul Kuentz
- , Ange-Line Bruel
- , Christel Thauvin-Robinet
- , Candace Bensignor
- , Hélène Dollfus
- , Vincent Laugel
- , Jean-Baptiste Rivière
- , Yannis Duffourd
- , Caroline Bonnet
- , Matthieu P Robert
- , Rodica Isaiko
- , Morgane Straub
- , Catherine Creuzot-Garcher
- , Patrick Calvas
- , Nicolas Chassaing
- , Bart Loeys
- , Edwin Reyniers
- , Geert Vandeweyer
- , Frank Kooy
- , Miroslava Hančárová
- , Marketa Havlovicová
- , Darina Prchalová
- , Zdenek Sedláček
- , Christian Gilissen
- , Rolph Pfundt
- , Jolien S Klein Wassink-Ruiter
- & Laurence Faivre
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Research | | Open
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
- Elena Buena-Atienza
- , Klaus Rüther
- , Britta Baumann
- , Richard Bergholz
- , David Birch
- , Elfride De Baere
- , Helene Dollfus
- , Marie T. Greally
- , Peter Gustavsson
- , Christian P. Hamel
- , John R. Heckenlively
- , Bart P. Leroy
- , Astrid S. Plomp
- , Jan Willem R. Pott
- , Katherine Rose
- , Thomas Rosenberg
- , Zornitza Stark
- , Joke B. G. M. Verheij
- , Richard Weleber
- , Ditta Zobor
- , Nicole Weisschuh
- , Susanne Kohl
- & Bernd Wissinger
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Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
- Marie Vincent
- , David Geneviève
- , Agnès Ostertag
- , Sandrine Marlin
- , Didier Lacombe
- , Dominique Martin-Coignard
- , Christine Coubes
- , Albert David
- , Stanislas Lyonnet
- , Catheline Vilain
- , Anne Dieux-Coeslier
- , Sylvie Manouvrier
- , Bertrand Isidor
- , Marie-Line Jacquemont
- , Sophie Julia
- , Valérie Layet
- , Sophie Naudion
- , Sylvie Odent
- , Laurent Pasquier
- , Sybille Pelras
- , Nicole Philip
- , Geneviève Pierquin
- , Fabienne Prieur
- , Nisrine Aboussair
- , Tania Attie-Bitach
- , Geneviève Baujat
- , Patricia Blanchet
- , Catherine Blanchet
- , Hélène Dollfus
- , Bérénice Doray
- , Elise Schaefer
- , Patrick Edery
- , Fabienne Giuliano
- , Alice Goldenberg
- , Cyril Goizet
- , Agnès Guichet
- , Christian Herlin
- , Laetitia Lambert
- , Bruno Leheup
- , Jelena Martinovic
- , Sandra Mercier
- , Cyril Mignot
- , Marie-Laure Moutard
- , Marie-José Perez
- , Lucile Pinson
- , Jacques Puechberty
- , Marjolaine Willems
- , Hanitra Randrianaivo
- , Kateline Szaskon
- , Annick Toutain
- , Alain Verloes
- , Jacqueline Vigneron
- , Elodie Sanchez
- , Pierre Sarda
- , Jean-Louis Laplanche
- & Corinne Collet
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Research |
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
- Carol-Anne Martin
- , Ilyas Ahmad
- , Anna Klingseisen
- , Muhammad Sajid Hussain
- , Louise S Bicknell
- , Andrea Leitch
- , Gudrun Nürnberg
- , Mohammad Reza Toliat
- , Jennie E Murray
- , David Hunt
- , Fawad Khan
- , Zafar Ali
- , Sigrid Tinschert
- , James Ding
- , Charlotte Keith
- , Margaret E Harley
- , Patricia Heyn
- , Rolf Müller
- , Ingrid Hoffmann
- , Valérie Cormier Daire
- , Hélène Dollfus
- , Lucie Dupuis
- , Anu Bashamboo
- , Kenneth McElreavey
- , Ariana Kariminejad
- , Roberto Mendoza-Londono
- , Anthony T Moore
- , Anand Saggar
- , Catie Schlechter
- , Richard Weleber
- , Holger Thiele
- , Janine Altmüller
- , Wolfgang Höhne
- , Matthew E Hurles
- , Angelika Anna Noegel
- , Shahid Mahmood Baig
- , Peter Nürnberg
- & Andrew P Jackson
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Research |
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
- Alison J Ross
- , Helen May-Simera
- , Erica R Eichers
- , Masatake Kai
- , Josephine Hill
- , Daniel J Jagger
- , Carmen C Leitch
- , J Paul Chapple
- , Peter M Munro
- , Shannon Fisher
- , Perciliz L Tan
- , Helen M Phillips
- , Michel R Leroux
- , Deborah J Henderson
- , Jennifer N Murdoch
- , Andrew J Copp
- , Marie-Madeleine Eliot
- , James R Lupski
- , David T Kemp
- , Hélène Dollfus
- , Masazumi Tada
- , Nicholas Katsanis
- , Andrew Forge
- & Philip L Beales
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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
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Research |
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Research |
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
- Kristien P Hoornaert
- , Inge Vereecke
- , Chantal Dewinter
- , Thomas Rosenberg
- , Frits A Beemer
- , Jules G Leroy
- , Laila Bendix
- , Erik Björck
- , Maryse Bonduelle
- , Odile Boute
- , Valerie Cormier-Daire
- , Christine De Die-Smulders
- , Anne Dieux-Coeslier
- , Hélène Dollfus
- , Mariet Elting
- , Andrew Green
- , Veronica I Guerci
- , Raoul C M Hennekam
- , Yvonne Hilhorts-Hofstee
- , Muriel Holder
- , Carel Hoyng
- , Kristi J Jones
- , Dragana Josifova
- , Ilkka Kaitila
- , Suzanne Kjaergaard
- , Yolande H Kroes
- , Kristina Lagerstedt
- , Melissa Lees
- , Martine LeMerrer
- , Cinzia Magnani
- , Carlo Marcelis
- , Loreto Martorell
- , Michèle Mathieu
- , Meriel McEntagart
- , Angela Mendicino
- , Jenny Morton
- , Gabrielli Orazio
- , Véronique Paquis
- , Orit Reish
- , Kalle O J Simola
- , Sarah F Smithson
- , Karen I Temple
- , Elisabeth Van Aken
- , Yolande Van Bever
- , Jenneke van den Ende
- , Johanna M Van Hagen
- , Leopoldo Zelante
- , Riina Zordania
- , Anne De Paepe
- , Bart P Leroy
- , Marc De Buyzere
- , Paul J Coucke
- & Geert R Mortier
