Article
RetiGene, a comprehensive gene atlas for inherited retinal diseases.
American journal of human genetics - 2 Oct 2025
Rivolta Carlo, Celik Elifnaz, Kamdar Dhryata, Cancellieri Francesca, Kaminska Karolina, Ullah Mukhtar, Barberán-Martínez Pilar, Bouckaert Manon, Cortón Marta, Delanote Emma, Fernández-Caballero Lidia, García García Gema, Holtes Lara K, Karali Marianthi, Lopez Irma, Peter Virginie G, Schneider Nina, Vincke Lieselot, Ayuso Carmen, Banfi Sandro, Bocquet Beatrice, Coppieters Frauke, Cremers Frans P M, Inglehearn Chris F, Iwata Takeshi, Kalatzis Vasiliki, Koenekoop Robert K, Millán José M, Sharon Dror, Toomes Carmel, Quinodoz Mathieu
Abstract excerpt
Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic heterogeneity, possibly the highest among all human genetic diseases, as well as diverse inheritance patterns. Despite advances in gene discovery, limited understanding of gene function and challenges in accurately...
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