Publications:

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: 6992G>A; Gly2331Glu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports

Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S

Publication Date: 2022-12-02

Variant appearance in text: USH2A: 6992G>A; Gly2331Glu

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

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Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.

International Journal Of Molecular Sciences

Karali, Marianthi M; Testa, Francesco F; Brunetti-Pierri, Raffaella R; Di Iorio, Valentina V; Pizzo, Mariateresa M; Melillo, Paolo P; Barillari, Maria Rosaria MR; Torella, Annalaura A; Musacchia, Francesco F; D'Angelo, Luigi L; Banfi, Sandro S; Simonelli, Francesca F

Publication Date: 2019-12-20

Variant appearance in text: USH2A: 6992G>A; Gly2331Glu

PubMed Link: 31877679

Variant Present in the following documents:

• Main text
• ijms-21-00086.pdf

View BVdb publication page