Showing 1–24 of 24 results
-
Research | | Open
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
- Irene Perea-Romero
- , Gema Gordo
- , Ionut F. Iancu
- , Marta Del Pozo-Valero
- , Berta Almoguera
- , Fiona Blanco-Kelly
- , Ester Carreño
- , Belen Jimenez-Rolando
- , Rosario Lopez-Rodriguez
- , Isabel Lorda-Sanchez
- , Inmaculada Martin-Merida
- , Lucia Pérez de Ayala
- , Rosa Riveiro-Alvarez
- , Elvira Rodriguez-Pinilla
- , Saoud Tahsin-Swafiri
- , Maria J. Trujillo-Tiebas
- , Ana Bustamante-Aragones
- , Rocio Cardero-Merlo
- , Ruth Fernandez-Sanchez
- , Jesus Gallego-Merlo
- , Ines Garcia-Vara
- , Ascension Gimenez-Pardo
- , Laura Horcajada-Burgos
- , Fernando Infantes-Barbero
- , Esther Lantero
- , Miguel A. Lopez-Martinez
- , Andrea Martinez-Ramas
- , Lorena Ondo
- , Marta Rodriguez de Alba
- , Carolina Sanchez-Jimeno
- , Camilo Velez-Monsalve
- , Cristina Villaverde
- , Olga Zurita
- , Domingo Aguilera-Garcia
- , Jana Aguirre-Lamban
- , Ana Arteche
- , Diego Cantalapiedra
- , Patricia Fernandez-San Jose
- , Liliana Galbis-Martinez
- , Maria Garcia-Hoyos
- , Carlos Lombardia
- , Maria I. Lopez-Molina
- , Raquel Perez-Carro
- , Luciana R. J. Da Silva
- , Carmen Ramos
- , Rocio Sanchez-Alcudia
- , Iker Sanchez-Navarro
- , Sorina D. Tatu
- , Elena Vallespin
- , Elena Aller
- , Sara Bernal
- , Maria J. Gamundi
- , Gema Garcia-Garcia
- , Inmaculada Hernan
- , Teresa Jaijo
- , Guillermo Antiñolo
- , Montserrat Baiget
- , Miguel Carballo
- , Jose M. Millan
- , Diana Valverde
- , Rando Allikmets
- , Sandro Banfi
- , Frans P. M. Cremers
- , Rob W. J. Collin
- , Elfride De Baere
- , Hakon Hakonarson
- , Susanne Kohl
- , Carlo Rivolta
- , Dror Sharon
- , Maria C. Alonso-Cerezo
- , Maria J. Ballesta-Martinez
- , Sergi Beltran
- , Carmen Benito Lopez
- , Jaume Català-Mora
- , Claudio Catalli
- , Carmen Cotarelo-Perez
- , Miguel Fernandez-Burriel
- , Ana Fontalba-Romero
- , Enrique Galán-Gómez
- , Maria Garcia-Barcina
- , Loida M. Garcia-Cruz
- , Blanca Gener
- , Belen Gil-Fournier
- , Nancy Govea
- , Encarna Guillen-Navarro
- , Ines Hernando Acero
- , Cristina Irigoyen
- , Silvia Izquierdo-Álvarez
- , Isabel Llano-Rivas
- , Maria A. López-Ariztegui
- , Vanesa Lopez-Gonzalez
- , Fermina Lopez-Grondona
- , Loreto Martorell
- , Pilar Mendez-Perez
- , Maria Moreno-Igoa
- , Raluca Oancea-Ionescu
- , Francesc Palau-Martinez
- , Guiomar Perez de Nanclares
- , Feliciano J. Ramos-Fuentes
- , Raquel Rodriguez-Lopez
- , Montserrat Rodriguez-Pedreira
- , Lydia Rodriguez-Peña
- , Berta Rodriguez-Sanchez
- , Jordi Rosell
- , Noemi Rosello
- , Raquel Saez-Villaverde
- , Alfredo Santana
- , Irene Valenzuela-Palafoll
- , Eva Villota-Deleu
- , Blanca Garcia-Sandoval
- , Pablo Minguez
- , Almudena Avila-Fernandez
- , Marta Corton
- & Carmen Ayuso
-
Amendments and Corrections |
Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
- Chun-An Chen
- , Daniëlle G M Bosch
- , Megan T Cho ScM
- , Jill A Rosenfeld
- , Marwan Shinawi
- , Richard Alan Lewis
- , John Mann
- , Parul Jayakar
- , Katelyn Payne
- , Laurence Walsh
- , Timothy Moss
- , Allison Schreiber
- , Cheri Schoonveld
- , Kristin G Monaghan
- , Frances Elmslie
- , Ganka Douglas
- , F Nienke Boonstra
- , Francisca Millan
- , Frans P M Cremers
- , Dianalee McKnight
- , Gabriele Richard
- , Jane Juusola
- , Fran Kendall
- , Keri Ramsey
- , Kwame Anyane-Yeboa
- , Elfrida Malkin
- , Wendy K Chung
- , Dmitriy Niyazov
- , Juan M Pascual
- , Magdalena Walkiewicz
- , Vivekanand Veluchamy
- , Chumei Li
- , Fuki M Hisama
- , Bert B A de Vries
- & Christian Schaaf
-
Research |
-
Research | | Open
-
Research |
-
Research |
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
- Mubeen Khan
- , Stéphanie S. Cornelis
- , Marta Del Pozo-Valero
- , Laura Whelan
- , Esmee H. Runhart
- , Ketan Mishra
- , Femke Bults
- , Yahya AlSwaiti
- , Alaa AlTalbishi
- , Elfride De Baere
- , Sandro Banfi
- , Eyal Banin
- , Miriam Bauwens
- , Tamar Ben-Yosef
- , Camiel J. F. Boon
- , L. Ingeborgh van den Born
- , Sabine Defoort
- , Aurore Devos
- , Adrian Dockery
- , Lubica Dudakova
- , Ana Fakin
- , G. Jane Farrar
- , Juliana Maria Ferraz Sallum
- , Kaoru Fujinami
- , Christian Gilissen
- , Damjan Glavač
- , Michael B. Gorin
- , Jacquie Greenberg
- , Takaaki Hayashi
- , Ymkje M. Hettinga
- , Alexander Hoischen
- , Carel B. Hoyng
- , Karsten Hufendiek
- , Herbert Jägle
- , Smaragda Kamakari
- , Marianthi Karali
- , Ulrich Kellner
- , Caroline C. W. Klaver
- , Bohdan Kousal
- , Tina M. Lamey
- , Ian M. MacDonald
- , Anna Matynia
- , Terri L. McLaren
- , Marcela D. Mena
- , Isabelle Meunier
- , Rianne Miller
- , Hadas Newman
- , Buhle Ntozini
- , Monika Oldak
- , Marc Pieterse
- , Osvaldo L. Podhajcer
- , Bernard Puech
- , Raj Ramesar
- , Klaus Rüther
- , Manar Salameh
- , Mariana Vallim Salles
- , Dror Sharon
- , Francesca Simonelli
- , Georg Spital
- , Marloes Steehouwer
- , Jacek P. Szaflik
- , Jennifer A. Thompson
- , Caroline Thuillier
- , Anna M. Tracewska
- , Martine van Zweeden
- , Andrea L. Vincent
- , Xavier Zanlonghi
- , Petra Liskova
- , Heidi Stöhr
- , John N. De Roach
- , Carmen Ayuso
- , Lisa Roberts
- , Bernhard H. F. Weber
- , Claire‐Marie Dhaenens
- & Frans P. M. Cremers
-
Research | | Open
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum
- Maleeha Maria
- , Ideke J. C. Lamers
- , Miriam Schmidts
- , Muhammad Ajmal
- , Sulman Jaffar
- , Ehsan Ullah
- , Bilal Mustafa
- , Shakeel Ahmad
- , Katia Nazmutdinova
- , Bethan Hoskins
- , Erwin van Wijk
- , Linda Koster-Kamphuis
- , Muhammad Imran Khan
- , Phil L. Beales
- , Frans P. M. Cremers
- , Ronald Roepman
- , Maleeha Azam
- , Heleen H. Arts
- & Raheel Qamar
-
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
- Chun-An Chen
- , Daniëlle G. M. Bosch
- , Megan T. Cho
- , Jill A. Rosenfeld
- , Marwan Shinawi
- , Richard Alan Lewis
- , John Mann
- , Parul Jayakar
- , Katelyn Payne
- , Laurence Walsh
- , Timothy Moss
- , Allison Schreiber
- , Cheri Schoonveld
- , Kristin G. Monaghan
- , Frances Elmslie
- , Ganka Douglas
- , F. Nienke Boonstra
- , Francisca Millan
- , Frans P. M. Cremers
- , Dianalee McKnight
- , Gabriele Richard
- , Jane Juusola
- , Fran Kendall
- , Keri Ramsey
- , Kwame Anyane-Yeboa
- , Elfrida Malkin
- , Wendy K. Chung
- , Dmitriy Niyazov
- , Juan M. Pascual
- , Magdalena Walkiewicz
- , Vivekanand Veluchamy
- , Chumei Li
- , Fuki M. Hisama
- , Bert B. A. de Vries
- & Christian Schaaf
-
Research |
-
Research |
-
Research |
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
- Alessandra Maugeri
- , Kris Flothmann
- , Nadine Hemmrich
- , Sofie Ingvast
- , Paula Jorge
- , Eva Paloma
- , Reshma Patel
- , Jean-Michel Rozet
- , Jaana Tammur
- , Francesco Testa
- , Susana Balcells
- , Alan C Bird
- , Han G Brunner
- , Carel B Hoyng
- , Andres Metspalu
- , Francesca Simonelli
- , Rando Allikmets
- , Shomi S Bhattacharya
- , Michele D'Urso
- , Roser Gonzàlez-Duarte
- , Josseline Kaplan
- , Gerard J te Meerman
- , Rosário Santos
- , Marianne Schwartz
- , Guy Van Camp
- , Claes Wadelius
- , Bernhard H F Weber
- & Frans P M Cremers
-
Research |
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
- Anneke I. den Hollander
- , Jacoline B. ten Brink
- , Yvette J.M. de Kok
- , Simone van Soest
- , L. Ingeborgh van den Born
- , Marc A. van Driel
- , Dorien J.R. van de Pol
- , Annette M. Payne
- , Shomi S. Bhattacharya
- , Ulrich Kellner
- , Carel B. Hoyng
- , Andries Westerveld
- , Han G. Brunner
- , Elisabeth M. Bleeker-Wagemakers
- , August F. Deutman
- , John R. Heckenlively
- , Frans P.M. Cremers
- & Arthur A.B. Bergen
-
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
-
Research |
-
Research |
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
- Yaoqin Gong
- , Deborah Krakow
- , Jose Marcelino
- , Douglas Wilkin
- , David Chitayat
- , Riyana Babul-Hirji
- , Louanne Hudgins
- , Cor W. Cremers
- , Frans P.M. Cremers
- , Han G. Brunner
- , Kent Reinker
- , David L. Rimoin
- , Daniel H. Cohn
- , Frances R. Goodman
- , William Reardon
- , Michael Patton
- , Clair A. Francomano
- & Matthew L. Warman
-
Research | | Open
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
- Konstantinos Nikopoulos
- , Katarina Cisarova
- , Mathieu Quinodoz
- , Hanna Koskiniemi-Kuendig
- , Noriko Miyake
- , Pietro Farinelli
- , Atta Ur Rehman
- , Muhammad Imran Khan
- , Andrea Prunotto
- , Masato Akiyama
- , Yoichiro Kamatani
- , Chikashi Terao
- , Fuyuki Miya
- , Yasuhiro Ikeda
- , Shinji Ueno
- , Nobuo Fuse
- , Akira Murakami
- , Yuko Wada
- , Hiroko Terasaki
- , Koh-Hei Sonoda
- , Tatsuro Ishibashi
- , Michiaki Kubo
- , Frans P. M. Cremers
- , Zoltán Kutalik
- , Naomichi Matsumoto
- , Koji M. Nishiguchi
- , Toru Nakazawa
- & Carlo Rivolta
-
Research | | Open
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
- Riccardo Sangermano
- , Alejandro Garanto
- , Mubeen Khan
- , Esmee H. Runhart
- , Miriam Bauwens
- , Nathalie M. Bax
- , L. Ingeborgh van den Born
- , Muhammad Imran Khan
- , Stéphanie S. Cornelis
- , Joke B. G. M. Verheij
- , Jan-Willem R. Pott
- , Alberta A. H. J. Thiadens
- , Caroline C. W. Klaver
- , Bernard Puech
- , Isabelle Meunier
- , Sarah Naessens
- , Gavin Arno
- , Ana Fakin
- , Keren J. Carss
- , F. Lucy Raymond
- , Andrew R. Webster
- , Claire-Marie Dhaenens
- , Heidi Stöhr
- , Felix Grassmann
- , Bernhard H. F. Weber
- , Carel B. Hoyng
- , Elfride De Baere
- , Silvia Albert
- , Rob W. J. Collin
- & Frans P. M. Cremers
-
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 |
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 |
-
Research |
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
- Susanne Kohl
- , Ditta Zobor
- , Wei-Chieh Chiang
- , Nicole Weisschuh
- , Jennifer Staller
- , Irene Gonzalez Menendez
- , Stanley Chang
- , Susanne C Beck
- , Marina Garcia Garrido
- , Vithiyanjali Sothilingam
- , Mathias W Seeliger
- , Franco Stanzial
- , Francesco Benedicenti
- , Francesca Inzana
- , Elise Héon
- , Ajoy Vincent
- , Jill Beis
- , Tim M Strom
- , Günther Rudolph
- , Susanne Roosing
- , Anneke I den Hollander
- , Frans P M Cremers
- , Irma Lopez
- , Huanan Ren
- , Anthony T Moore
- , Andrew R Webster
- , Michel Michaelides
- , Robert K Koenekoop
- , Eberhart Zrenner
- , Randal J Kaufman
- , Stephen H Tsang
- , Bernd Wissinger
- & Jonathan H Lin
-
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 |
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
- Carrie M Louie
- , Gianluca Caridi
- , Vanda S Lopes
- , Francesco Brancati
- , Andreas Kispert
- , Madeline A Lancaster
- , Andrew M Schlossman
- , Edgar A Otto
- , Michael Leitges
- , Hermann-Josef Gröne
- , Irma Lopez
- , Harini V Gudiseva
- , John F O'Toole
- , Elena Vallespin
- , Radha Ayyagari
- , Carmen Ayuso
- , Frans P M Cremers
- , Anneke I den Hollander
- , Robert K Koenekoop
- , Bruno Dallapiccola
- , Gian Marco Ghiggeri
- , Friedhelm Hildebrandt
- , Enza Maria Valente
- , David S Williams
- & Joseph G Gleeson
-
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
