Showing 1–23 of 23 results
-
Research | | Open
-
Editorial |
-
Amendments and Corrections | | Open
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
- Stijn Van de Sompele
- , Claire Smith
- , Marianthi Karali
- , Marta Corton
- , Kristof Van Schil
- , Frank Peelman
- , Timothy Cherry
- , Toon Rosseel
- , Hannah Verdin
- , Julien Derolez
- , Thalia Van Laethem
- , Kamron N. Khan
- , Martin McKibbin
- , Carmel Toomes
- , Manir Ali
- , Annalaura Torella
- , Francesco Testa
- , Belen Jimenez
- , Francesca Simonelli
- , Julie De Zaeytijd
- , Jenneke Van den Ende
- , Bart P. Leroy
- , Frauke Coppieters
- , Carmen Ayuso
- , Chris F. Inglehearn
- , Sandro Banfi
- & Elfride De Baere
-
Amendments and Corrections | | Open
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- Kristof Van Schil
- , Sarah Naessens
- , Stijn Van de Sompele
- , Marjolein Carron
- , Alexander Aslanidis
- , Caroline Van Cauwenbergh
- , Anja K. Mayer
- , Mattias Van Heetvelde
- , Miriam Bauwens
- , Hannah Verdin
- , Frauke Coppieters
- , Michael E. Greenberg
- , Marty G. Yang
- , Marcus Karlstetter
- , Thomas Langmann
- , Katleen De Preter
- , Susanne Kohl
- , Timothy J. Cherry
- , Bart P. Leroy
- , James R Lupski
- , Claudia Carvalho
- , Max van Min
- , Petra Klous
- , Sarah De Jaegere
- , Sally Hooghe
- & Elfride De Baere
-
Research |
-
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
-
Research |
-
Research Highlights |
-
-
-
Research | | Open
-
Research | | Open
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
- Miriam Bauwens
- , Alejandro Garanto
- , Riccardo Sangermano
- , Sarah Naessens
- , Nicole Weisschuh
- , Julie De Zaeytijd
- , Mubeen Khan
- , Françoise Sadler
- , Irina Balikova
- , Caroline Van Cauwenbergh
- , Toon Rosseel
- , Jim Bauwens
- , Kim De Leeneer
- , Sarah De Jaegere
- , Thalia Van Laethem
- , Meindert De Vries
- , Keren Carss
- , Gavin Arno
- , Ana Fakin
- , Andrew R. Webster
- , Thomy J. L. de Ravel de l’Argentière
- , Yves Sznajer
- , Marnik Vuylsteke
- , Susanne Kohl
- , Bernd Wissinger
- , Timothy Cherry
- , Rob W. J. Collin
- , Frans P. M. Cremers
- , Bart P. Leroy
- & Elfride De Baere
-
Research | | Open
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
- Stijn Van de Sompele
- , Claire Smith
- , Marianthi Karali
- , Marta Corton
- , Kristof Van Schil
- , Frank Peelman
- , Timothy Cherry
- , Toon Rosseel
- , Hannah Verdin
- , Julien Derolez
- , Thalia Van Laethem
- , Kamron N. Khan
- , Martin McKibbin
- , Carmel Toomes
- , Manir Ali
- , Annalaura Torella
- , Francesco Testa
- , Belen Jimenez
- , Francesca Simonelli
- , Julie De Zaeytijd
- , Jenneke Van den Ende
- , Bart P. Leroy
- , Frauke Coppieters
- , Carmen Ayuso
- , Chris F. Inglehearn
- , Sandro Banfi
- & Elfride De Baere
-
Research |
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
- Artur V. Cideciyan
- , Samuel G. Jacobson
- , Arlene V. Drack
- , Allen C. Ho
- , Jason Charng
- , Alexandra V. Garafalo
- , Alejandro J. Roman
- , Alexander Sumaroka
- , Ian C. Han
- , Maria D. Hochstedler
- , Wanda L. Pfeifer
- , Elliott H. Sohn
- , Magali Taiel
- , Michael R. Schwartz
- , Patricia Biasutto
- , Wilma de Wit
- , Michael E. Cheetham
- , Peter Adamson
- , David M. Rodman
- , Gerard Platenburg
- , Maria D. Tome
- , Irina Balikova
- , Fanny Nerinckx
- , Julie De Zaeytijd
- , Caroline Van Cauwenbergh
- , Bart P. Leroy
- & Stephen R. Russell
-
Research | | Open
-
| Open
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- Kristof Van Schil
- , Sarah Naessens
- , Stijn Van de Sompele
- , Marjolein Carron
- , Alexander Aslanidis
- , Caroline Van Cauwenbergh
- , Anja K Mayer
- , Mattias Van Heetvelde
- , Miriam Bauwens
- , Hannah Verdin
- , Frauke Coppieters
- , Michael E Greenberg
- , Marty G Yang
- , Marcus Karlstetter
- , Thomas Langmann
- , Katleen De Preter
- , Susanne Kohl
- , Timothy J Cherry
- , Bart P Leroy
- , James R Lupski
- , Claudia Carvalho
- , Max van Min
- , Petra Klous
- , Sarah De Jaegere
- , Sally Hooghe
- & Elfride De Baere
-
| Open
-
Research | | Open
-
Research |
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
- Nicole T M Saksens
- , Mark P Krebs
- , Frederieke E Schoenmaker-Koller
- , Wanda Hicks
- , Minzhong Yu
- , Lanying Shi
- , Lucy Rowe
- , Gayle B Collin
- , Jeremy R Charette
- , Stef J Letteboer
- , Kornelia Neveling
- , Tamara W van Moorsel
- , Sleiman Abu-Ltaif
- , Elfride De Baere
- , Sophie Walraedt
- , Sandro Banfi
- , Francesca Simonelli
- , Frans P M Cremers
- , Camiel J F Boon
- , Ronald Roepman
- , Bart P Leroy
- , Neal S Peachey
- , Carel B Hoyng
- , Patsy M Nishina
- & Anneke I den Hollander
-
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
-
-
-
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
