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Scientific Reports|March 29, 2018
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathiesIker Sanchez-Navarro, Luciana R J da Silva, Fiona Blanco-Kelly, et al.
European Journal of Human Genetics : EJHG|April 29, 2025
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlationsSolomon S Merepa, Linda M Reis, Alejandra Damián, et al.
International Journal of Molecular Sciences|May 7, 2025
Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal DystrophiesCristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez, et al.
Human Genetics|April 11, 2020
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrixJuan-Manuel Bonet-Fernández, José-Daniel Aroca-Aguilar, Marta Corton, et al.
Scientific Reports|January 16, 2021
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implicationsIrene Perea-Romero, Gema Gordo, Ionut F Iancu, et al.
Human Genetics|July 6, 2018
Expanding the phenotype of the X-linked BCOR microphthalmia syndromesNicola Ragge, Bertrand Isidor, Pierre Bitoun, et al.
American Journal of Ophthalmology|June 16, 2023
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated DystrophiesCristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
JCI Insight|September 28, 2023
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosaBéatrice Bocquet, Caroline Borday, Nejla Erkilic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
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