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: 10510C>A; Pro3504Thr

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: P3504T

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

Genetic Testing And Molecular Biomarkers

Wang, Rongrong R; Han, Shirui S; Khan, Amjad A; Zhang, Xue X

Publication Date: 2017-05

Variant appearance in text: USH2A: 10510C>A; Pro3504Thr

PubMed Link: 28281779

Variant Present in the following documents:

• Main text

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Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Molecular Genetics & Genomic Medicine

Dad, Shzeena S; Rendtorff, Nanna Dahl ND; Tranebjærg, Lisbeth L; Grønskov, Karen K; Karstensen, Helena Gásdal HG; Brox, Vigdis V; Nilssen, Øivind Ø; Roux, Anne-Françoise AF; Rosenberg, Thomas T; Jensen, Hanne H; Møller, Lisbeth Birk LB

Publication Date: 2016-09

Variant appearance in text: USH2: 10510C>A

PubMed Link: 27957503

Variant Present in the following documents:

• Main text
• MGG3-4-527.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: USH2A: P3504T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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