Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Perea-Romero, I., Gordo, G., Iancu, I. F., Del Pozo-Valero, M., Almoguera, B., Blanco-Kelly, F., Carreño, E., Jimenez-Rolando, B., Lopez-Rodriguez, R., Lorda-Sanchez, I., Martin-Merida, I., Pérez de Ayala, L., Riveiro-Alvarez, R., Rodriguez-Pinilla, E., Tahsin-Swafiri, S., Trujillo-Tiebas, M. J., Bustamante-Aragones, A., Cardero-Merlo, R., … Ayuso, C. (2021). Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Scientific Reports, 11(1). https://doi.org/10.1038/s41598-021-81093-y
Authors:
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
Affiliated Authors:
Rando Allikmets
Columbia Affiliation:
elink
Publication Type:
Article
Unique ID:
10.1038/s41598-021-81093-y
PMID:
33452396
DOI:
10.1038/s41598-021-81093-y
Journal:
Scientific Reports
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record

Record Created: