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: GJB2: 535G>C; Asp179His

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.

Communications Biology

Praveen, Kavita K; Dobbyn, Lee L; Gurski, Lauren L; Ayer, Ariane H AH; Staples, Jeffrey J; Mishra, Shawn S; Bai, Yu Y; Kaufman, Alexandra A; Moscati, Arden A; Benner, Christian C; Chen, Esteban E; Chen, Siying S; Popov, Alexander A; Smith, Janell J; , ; , ; , ; Melander, Olle O; Jones, Marcus B MB; Marchini, Jonathan J; Balasubramanian, Suganthi S; Zambrowicz, Brian B; Drummond, Meghan C MC; Baras, Aris A; Abecasis, Goncalo R GR; Ferreira, Manuel A MA; Stahl, Eli A EA; Coppola, Giovanni G

Publication Date: 2022-06-03

Variant appearance in text: GJB2: 535G>C; Asp179His

PubMed Link: 35661827

Variant Present in the following documents:

• 42003_2022_3408_MOESM4_ESM.xlsx, sheet 9

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: GJB2: 535G>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.

Biomolecules

Maslova, Ekaterina A EA; Orishchenko, Konstantin E KE; Posukh, Olga L OL

Publication Date: 2021-01-05

Variant appearance in text: GJB2: 535G>C; Asp179His

PubMed Link: 33466560

Variant Present in the following documents:

• biomolecules-11-00061-s001.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: rs28931595

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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