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Frontiers in Genetics|November 7, 2024
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approachSuzanne E de Bruijn, Daan M Panneman, Nicole Weisschuh, et al.
Nature Genetics|December 23, 2015
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrityNicole T M Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller, et al.
American Journal of Human Genetics|September 17, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseasesCarlo Rivolta, Elifnaz Celik, Dhryata Kamdar, et al.
Investigative Ophthalmology & Visual Science|July 7, 2009
Genotyping microarray for CSNB-associated genesChristina Zeitz, Stephan Labs, Birgit Lorenz, et al.
Ophthalmology|April 5, 2014
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degenerationKoji M Nishiguchi, Almudena Avila-Fernandez, Ramon A C van Huet, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsMiriam Bauwens, Alejandro Garanto, Riccardo Sangermano, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 13, 2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndromeAlejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2022
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genesSuzanne E de Bruijn, Kim Rodenburg, Jordi Corominas, et al.
Plos One|January 12, 2013
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotypeIsabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, et al.
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