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: 12523T>G; Trp4175Gly

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.

Bmc Ophthalmology

Ahmed, Asif Naveed AN; Tahir, Raheel R; Khan, Niamat N; Ahmad, Mushtaq M; Dawood, Muhammad M; Basit, Abdul A; Yasin, Muhammad M; Nowshid, Maha M; Marwan, Muhammad M; Sultan, Komal K; Saleha, Shamim S

Publication Date: 2021-04-29

Variant appearance in text: USH2: Trp4175Gly

PubMed Link: 33926394

Variant Present in the following documents:

• Main text

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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: W4175G

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss.

Computational And Structural Biotechnology Journal

Yu, Dongmei D; Zou, Junhuang J; Chen, Qian Q; Zhu, Tian T; Sui, Ruifang R; Yang, Jun J

Publication Date: 2020

Variant appearance in text: USH2A: 12523T>G

PubMed Link: 32637036

Variant Present in the following documents:

• Main text
• main.pdf

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Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.

Plos One

Maranhao, Bruno B; Biswas, Pooja P; Gottsch, Alexander D H AD; Navani, Mili M; Naeem, Muhammad Asif MA; Suk, John J; Chu, Justin J; Khan, Sheen N SN; Poleman, Rachel R; Akram, Javed J; Riazuddin, Sheikh S; Lee, Pauline P; Riazuddin, S Amer SA; Hejtmancik, J Fielding JF; Ayyagari, Radha R

Publication Date: 2015

Variant appearance in text: USH2A: 12523T>G; Trp4175Gly

PubMed Link: 26352687

Variant Present in the following documents:

• Main text
• pone.0136561.pdf

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