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: 13378A>T; Ile4460Leu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Comparative Analysis of Functional and Structural Decline in Retinitis Pigmentosas.

International Journal Of Molecular Sciences

Cabral, Thiago T; Lima de Carvalho, Jose Ronaldo JR; Kim, Joonpyo J; Oh, Jin Kyun JK; Levi, Sarah R SR; Park, Karen Sophia KS; Duong, Jimmy K JK; Park, Junhyung J; Boudreault, Katherine K; Belfort, Rubens R; Tsang, Stephen H SH

Publication Date: 2020-04-15

Variant appearance in text: USH2A: 13378A>T; Ile4460Leu

PubMed Link: 32326409

Variant Present in the following documents:

• Main text
• ijms-21-02730.pdf

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Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Scientific Reports

Jauregui, Ruben R; Chan, Lawrence L; Oh, Jin Kyun JK; Cho, Ahra A; Sparrow, Janet R JR; Tsang, Stephen H SH

Publication Date: 2020-02-25

Variant appearance in text: USH2A: 13378A>T

PubMed Link: 32098976

Variant Present in the following documents:

• 41598_2020_60137_MOESM1_ESM.pdf

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Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.

Scientific Reports

Jauregui, Ruben R; Takahashi, Vitor K L VKL; Park, Karen Sophia KS; Cui, Xuan X; Takiuti, Julia T JT; Lima de Carvalho, Jose Ronaldo JR; Tsang, Stephen H SH

Publication Date: 2019-07-24

Variant appearance in text: USH2A: 13378A>T; I4460L

PubMed Link: 31341231

Variant Present in the following documents:

• 41598_2019_47251_MOESM1_ESM.pdf

View BVdb publication page