Publications:

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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: 476A>T; Asp159Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 476A>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 476A>T; Asp159Val

PubMed Link: 33466560

Variant Present in the following documents:

• biomolecules-11-00061-s001.pdf

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A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine

Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2020-09-22

Variant appearance in text: GJB2: 476A>T; D159V; rs28931592

PubMed Link: 32971794

Variant Present in the following documents:

• jpm-10-00140-s001.pdf

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Calcium interactions with Cx26 hemmichannel: Spatial association between MD simulations biding sites and variant pathogenicity.

Computational Biology And Chemistry

Albano, Juan M R JMR; Mussini, Nahuel N; Toriano, Roxana R; Facelli, Julio C JC; Ferraro, Marta B MB; Pickholz, Mónica M

Publication Date: 2018-12

Variant appearance in text: CX26: D159V

PubMed Link: 30466042

Variant Present in the following documents:

• Main text

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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: rs28931592

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GJB2: D159V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.

Plos One

Kim, So Young SY; Kim, Ah Reum AR; Han, Kyu Hee KH; Kim, Min Young MY; Jeon, Eun-Hee EH; Koo, Ja-Won JW; Oh, Seung Ha SH; Choi, Byung Yoon BY

Publication Date: 2015

Variant appearance in text: GJB2: Asp159Val

PubMed Link: 26061264

Variant Present in the following documents:

• Main text
• pone.0125416.pdf

View BVdb publication page

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Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Brain Research

Hoang Dinh, Emilie E; Ahmad, Shoeb S; Chang, Qing Q; Tang, Wenxue W; Stong, Benjamin B; Lin, Xi X

Publication Date: 2009-06-24

Variant appearance in text: GJB2: D159V

PubMed Link: 19230829

Variant Present in the following documents:

• Main text

View BVdb publication page

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