Publications:

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: USH2A: 12093delC; Y4031X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Acta Ophthalmologica

Diñeiro, Marta M; Capín, Raquel R; Cifuentes, Guadalupe Á GÁ; Fernández-Vega, Beatriz B; Villota, Eva E; Otero, Andrea A; Santiago, Adrián A; Pruneda, Patricia C PC; Castillo, David D; Viejo-Díaz, Mónica M; Hernando, Inés I; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Ordóñez, Gonzalo R GR; Fernández-Vega, Álvaro Á; Cabanillas, Rubén R; Cadiñanos, Juan J

Publication Date: 2020-12

Variant appearance in text: USH2A: 12093delC; Tyr4031*

PubMed Link: 32483926

Variant Present in the following documents:

• Main text

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High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.

Scientific Reports

Fuster-García, Carla C; García-García, Gema G; Jaijo, Teresa T; Fornés, Neus N; Ayuso, Carmen C; Fernández-Burriel, Miguel M; Sánchez-De la Morena, Ana A; Aller, Elena E; Millán, José M JM

Publication Date: 2018-11-20

Variant appearance in text: USH2A: 12093delC

PubMed Link: 30459346

Variant Present in the following documents:

• Main text
• 41598_2018_Article_35085.pdf

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A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Scientific Reports

Ezquerra-Inchausti, Maitane M; Anasagasti, Ander A; Barandika, Olatz O; Garay-Aramburu, Gonzaga G; Galdós, Marta M; López de Munain, Adolfo A; Irigoyen, Cristina C; Ruiz-Ederra, Javier J

Publication Date: 2018-10-18

Variant appearance in text: USH2A: 12093del

PubMed Link: 30337596

Variant Present in the following documents:

• Main text
• 41598_2018_Article_33810.pdf

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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Van Schil, Kristof K; Naessens, Sarah S; Van de Sompele, Stijn S; Carron, Marjolein M; Aslanidis, Alexander A; Van Cauwenbergh, Caroline C; Kathrin Mayer, Anja A; Van Heetvelde, Mattias M; Bauwens, Miriam M; Verdin, Hannah H; Coppieters, Frauke F; Greenberg, Michael E ME; Yang, Marty G MG; Karlstetter, Marcus M; Langmann, Thomas T; De Preter, Katleen K; Kohl, Susanne S; Cherry, Timothy J TJ; Leroy, Bart P BP; , ; De Baere, Elfride E

Publication Date: 2018-02

Variant appearance in text: USH2A: 12093del; Tyr4031*

PubMed Link: 28749477

Variant Present in the following documents:

• gim201797x2.xlsx, sheet 1

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Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Orphanet Journal Of Rare Diseases

Aparisi, María J MJ; Aller, Elena E; Fuster-García, Carla C; García-García, Gema G; Rodrigo, Regina R; Vázquez-Manrique, Rafael P RP; Blanco-Kelly, Fiona F; Ayuso, Carmen C; Roux, Anne-Françoise AF; Jaijo, Teresa T; Millán, José M JM

Publication Date: 2014-11-18

Variant appearance in text: USH2A: 12093delC

PubMed Link: 25404053

Variant Present in the following documents:

• Main text
• 13023_2014_Article_168.pdf

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Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Orphanet Journal Of Rare Diseases

Garcia-Garcia, Gema G; Aparisi, Maria J MJ; Jaijo, Teresa T; Rodrigo, Regina R; Leon, Ana M AM; Avila-Fernandez, Almudena A; Blanco-Kelly, Fiona F; Bernal, Sara S; Navarro, Rafael R; Diaz-Llopis, Manuel M; Baiget, Montserrat M; Ayuso, Carmen C; Millan, Jose M JM; Aller, Elena E

Publication Date: 2011-10-17

Variant appearance in text: USH2: 12093delC

PubMed Link: 22004887

Variant Present in the following documents:

• Main text
• 1750-1172-6-65.pdf

View BVdb publication page

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