Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: USH2A: 8693A>C; Tyr2898Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science

Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2022-02-01

Variant appearance in text: USH2A: 8693A>C; Tyr2898Ser

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

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Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science

Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2022-02-01

Variant appearance in text: USH2A: 8693A>C; Tyr2898Ser

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

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Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells.

Genes

Liu, Xuezhong X; Lillywhite, Justin J; Zhu, Wenliang W; Huang, Zaohua Z; Clark, Anna M AM; Gosstola, Nicholas N; Maguire, Colin T CT; Dykxhoorn, Derek D; Chen, Zheng-Yi ZY; Yang, Jun J

Publication Date: 2021-05-25

Variant appearance in text: USH2A: 8693A>C

PubMed Link: 34070435

Variant Present in the following documents:

• Main text
• genes-12-00805.pdf

View BVdb publication page

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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: Y2898S

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Scientific Reports

Perez-Carro, Raquel R; Corton, Marta M; Sánchez-Navarro, Iker I; Zurita, Olga O; Sanchez-Bolivar, Noelia N; Sánchez-Alcudia, Rocío R; Lelieveld, Stefan H SH; Aller, Elena E; Lopez-Martinez, Miguel Angel MA; López-Molina, Ma Isabel MI; Fernandez-San Jose, Patricia P; Blanco-Kelly, Fiona F; Riveiro-Alvarez, Rosa R; Gilissen, Christian C; Millan, Jose M JM; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2016-01-25

Variant appearance in text: USH2A: Tyr2898Ser

PubMed Link: 26806561

Variant Present in the following documents:

• Main text
• srep19531.pdf

View BVdb publication page

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Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

Plos One

de Castro-Miró, Marta M; Pomares, Esther E; Lorés-Motta, Laura L; Tonda, Raul R; Dopazo, Joaquín J; Marfany, Gemma G; Gonzàlez-Duarte, Roser R

Publication Date: 2014

Variant appearance in text: USH2A: 8693A>C; Y2898S

PubMed Link: 24516651

Variant Present in the following documents:

• Main text
• pone.0088410.pdf

View BVdb publication page

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