Publications:

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Npj Genomic Medicine

Fadaie, Zeinab Z; Whelan, Laura L; Ben-Yosef, Tamar T; Dockery, Adrian A; Corradi, Zelia Z; Gilissen, Christian C; Haer-Wigman, Lonneke L; Corominas, Jordi J; Astuti, Galuh D N GDN; de Rooij, Laura L; van den Born, L Ingeborgh LI; Klaver, Caroline C W CCW; Hoyng, Carel B CB; Wynne, Niamh N; Duignan, Emma S ES; Kenna, Paul F PF; Cremers, Frans P M FPM; Farrar, G Jane GJ; Roosing, Susanne S

Publication Date: 2021-11-18

Variant appearance in text: USH2A: 9468T>A

PubMed Link: 34795310

Variant Present in the following documents:

• Main text
• 41525_2021_Article_261.pdf
• 41525_2021_261_MOESM2_ESM.pdf

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Updating the Genetic Landscape of Inherited Retinal Dystrophies.

Frontiers In Cell And Developmental Biology

García Bohórquez, Belén B; Aller, Elena E; Rodríguez Muñoz, Ana A; Jaijo, Teresa T; García García, Gema G; Millán, José M JM

Publication Date: 2021

Variant appearance in text: USH2A: 9468T>A

PubMed Link: 34327195

Variant Present in the following documents:

• Main text
• fcell-09-645600.pdf

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Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

American Journal Of Human Genetics

Collin, Rob W J RW; Littink, Karin W KW; Klevering, B Jeroen BJ; van den Born, L Ingeborgh LI; Koenekoop, Robert K RK; Zonneveld, Marijke N MN; Blokland, Ellen A W EA; Strom, Tim M TM; Hoyng, Carel B CB; den Hollander, Anneke I AI; Cremers, Frans P M FP

Publication Date: 2008-11

Variant appearance in text:

PubMed Link: 18976725

Variant Present in the following documents:

• Main text

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