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: GJB3: 580G>A; Ala194Thr

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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Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.

Human Genomics

Ma, Jing J; Ma, Xiuli X; Lin, Ken K; Huang, Rui R; Bi, Xianyun X; Ming, Cheng C; Li, Li L; Li, Xia X; Li, Guo G; Zhao, Liping L; Yang, Tao T; Gao, Yingqin Y; Zhang, Tiesong T

Publication Date: 2023-01-04

Variant appearance in text: GJB3: 580G>A; Ala194Thr

PubMed Link: 36597107

Variant Present in the following documents:

• 40246_2022_449_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: GJB3: A194T; rs117385606

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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Late onset of type 2 diabetes is associated with mitochondrial tRNATrp A5514G and tRNASer(AGY) C12237T mutations.

Journal Of Clinical Laboratory Analysis

Yang, Liuchun L; Guo, Qinxian Q; Leng, Jianhang J; Wang, Keyi K; Ding, Yu Y

Publication Date: 2022-01

Variant appearance in text: GJB3: A194T

PubMed Link: 34811812

Variant Present in the following documents:

• Main text
• JCLA-36-e24102.pdf

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Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

Neural Plasticity

Xie, Le L; Qiu, Yue Y; Jin, Yuan Y; Xu, Kai K; Bai, Xue X; Liu, Xiao-Zhou XZ; Wang, Xiao-Hui XH; Chen, Sen S; Sun, Yu Y

Publication Date: 2021

Variant appearance in text: GJB3: 580G>A; Ala194Thr

PubMed Link: 34335733

Variant Present in the following documents:

• Main text
• NP2021-6151973.pdf

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Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome.

Human Heredity

Zhang, Qin Q; Qin, Tiantian T; Hu, Wenmu W; Janjua, Muhammad Usman MU; Jin, Ping P

Publication Date: 2020

Variant appearance in text: GJB3: 580G>A

PubMed Link: 34192699

Variant Present in the following documents:

• Main text

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Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.

Iranian Journal Of Public Health

Aliazami, Farnoush F; Farhud, Dariush D; Zarif-Yeganeh, Marjan M; Salehi, Siamak S; Hosseinipour, Azam A; Sasanfar, Roxana R; Eslami, Maryam M

Publication Date: 2020-11

Variant appearance in text: GJB3: 580G>A

PubMed Link: 33708733

Variant Present in the following documents:

• Main text
• IJPH-49-2128.pdf

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Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Life (Basel, Switzerland)

Adadey, Samuel Mawuli SM; Wonkam-Tingang, Edmond E; Twumasi Aboagye, Elvis E; Nayo-Gyan, Daniel Wonder DW; Boatemaa Ansong, Maame M; Quaye, Osbourne O; Awandare, Gordon A GA; Wonkam, Ambroise A

Publication Date: 2020-10-28

Variant appearance in text: GJB3: 580G>A; A194T; rs117385606

PubMed Link: 33126609

Variant Present in the following documents:

• Main text
• life-10-00258.pdf

View BVdb publication page

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Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.

Molecular Genetics & Genomic Medicine

Wu, Di D; Huang, Weiyuan W; Xu, Zhenhang Z; Li, Shuo S; Zhang, Jie J; Chen, Xiaohua X; Tang, Yan Y; Qiu, Jinhong J; Wang, Zhixia Z; Duan, Xuchu X; Zhang, Luping L

Publication Date: 2020-04

Variant appearance in text: GJB3: 580G>A; A194T

PubMed Link: 32048449

Variant Present in the following documents:

• MGG3-8-e1177-s002.pdf

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Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.

European Journal Of Human Genetics : Ejhg

Yuan, Yongyi Y; Li, Qi Q; Su, Yu Y; Lin, Qiongfen Q; Gao, Xue X; Liu, Hankui H; Huang, Shasha S; Kang, Dongyang D; Todd, N Wendell NW; Mattox, Douglas D; Zhang, Jianguo J; Lin, Xi X; Dai, Pu P

Publication Date: 2020-02

Variant appearance in text: GJB3: 580G>A

PubMed Link: 31541171

Variant Present in the following documents:

• Main text
• 41431_2019_Article_510.pdf

View BVdb publication page

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Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.

International Journal Of Audiology

D'Aguillo, Christine C; Bressler, Sara S; Yan, Denise D; Mittal, Rahul R; Fifer, Robert R; Blanton, Susan H SH; Liu, Xuezhong X

Publication Date: 2019-12

Variant appearance in text: GJB3: 580G>A

PubMed Link: 31264897

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: GJB3: 580G>A; Ala194Thr

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A).

Thescientificworldjournal

Pshennikova, Vera G VG; Barashkov, Nikolay A NA; Romanov, Georgii P GP; Teryutin, Fedor M FM; Solov'ev, Aisen V AV; Gotovtsev, Nyurgun N NN; Nikanorova, Alena A AA; Nakhodkin, Sergey S SS; Sazonov, Nikolay N NN; Morozov, Igor V IV; Bondar, Alexander A AA; Dzhemileva, Lilya U LU; Khusnutdinova, Elza K EK; Posukh, Olga L OL; Fedorova, Sardana A SA

Publication Date: 2019

Variant appearance in text: GJB3: Ala194Thr

PubMed Link: 31015822

Variant Present in the following documents:

• Main text

View BVdb publication page

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A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.

Plos One

Liu, Yalan Y; Hu, Chang C; Liu, Chang C; Liu, Deyuan D; Mei, Lingyun L; He, Chufeng C; Jiang, Lu L; Wu, Hong H; Chen, Hongsheng H; Feng, Yong Y

Publication Date: 2019

Variant appearance in text: GJB3: 580G>A

PubMed Link: 30973918

Variant Present in the following documents:

• Main text
• pone.0215212.pdf

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Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.

Scientific Reports

Han, Jae Joon JJ; Nguyen, Pham Dinh PD; Oh, Doo-Yi DY; Han, Jin Hee JH; Kim, Ah-Reum AR; Kim, Min Young MY; Park, Hye-Rim HR; Tran, Lam Huyen LH; Dung, Nguyen Huu NH; Koo, Ja-Won JW; Lee, Jun Ho JH; Oh, Seung Ha SH; Anh Vu, Hoang H; Choi, Byung Yoon BY

Publication Date: 2019-02-07

Variant appearance in text: GJB3: 580G>A; Ala194Thr

PubMed Link: 30733538

Variant Present in the following documents:

• 41598_2018_38245_MOESM1_ESM.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: GJB3: A194T; rs117385606

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

American Journal Of Human Genetics

Azaiez, Hela H; Booth, Kevin T KT; Ephraim, Sean S SS; Crone, Bradley B; Black-Ziegelbein, Elizabeth A EA; Marini, Robert J RJ; Shearer, A Eliot AE; Sloan-Heggen, Christina M CM; Kolbe, Diana D; Casavant, Thomas T; Schnieders, Michael J MJ; Nishimura, Carla C; Braun, Terry T; Smith, Richard J H RJH

Publication Date: 2018-10-04

Variant appearance in text: GJB3: 580G>A; Ala194Thr

PubMed Link: 30245029

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?

Journal Of Clinical Laboratory Analysis

Chen, Kaitian K; Wu, Xuan X; Zong, Ling L; Jiang, Hongyan H

Publication Date: 2018-11

Variant appearance in text: GJB3: 580G>A

PubMed Link: 29926981

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: GJB3: 580G>A; A194T; rs117385606

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.

Plos One

Sheffield, Brandon S BS; Tinker, Anna V AV; Shen, Yaoqing Y; Hwang, Harry H; Li-Chang, Hector H HH; Pleasance, Erin E; Ch'ng, Carolyn C; Lum, Amy A; Lorette, Julie J; McConnell, Yarrow J YJ; Sun, Sophie S; Jones, Steven J M SJ; Gown, Allen M AM; Huntsman, David G DG; Schaeffer, David F DF; Churg, Andrew A; Yip, Stephen S; Laskin, Janessa J; Marra, Marco A MA

Publication Date: 2015

Variant appearance in text: GJB3: A194T

PubMed Link: 25798586

Variant Present in the following documents:

• pone.0119689.s004.xlsx, sheet 2

View BVdb publication page

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Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.

Journal Of Translational Medicine

Chen, Kaitian K; Zong, Ling L; Liu, Min M; Wang, Xianren X; Zhou, Wei W; Zhan, Yuan Y; Cao, Hui H; Dong, Chang C; Tang, Haocheng H; Jiang, Hongyan H

Publication Date: 2014-03-11

Variant appearance in text: GJB3: 580G>A

PubMed Link: 24612839

Variant Present in the following documents:

• Main text
• 1479-5876-12-64.pdf

View BVdb publication page

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Autosomal recessive nonsyndromic deafness genes: a review.

Frontiers In Bioscience (Landmark Edition)

Duman, Duygu D; Tekin, Mustafa M

Publication Date: 2012-06-01

Variant appearance in text: GJB3: A194T

PubMed Link: 22652773

Variant Present in the following documents:

• Main text

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Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Journal Of Translational Medicine

Yuan, Yongyi Y; You, Yiwen Y; Huang, Deliang D; Cui, Jinghong J; Wang, Yong Y; Wang, Qiang Q; Yu, Fei F; Kang, Dongyang D; Yuan, Huijun H; Han, Dongyi D; Dai, Pu P

Publication Date: 2009-09-10

Variant appearance in text: GJB3: 580G>A; A194T

PubMed Link: 19744334

Variant Present in the following documents:

• Main text
• 1479-5876-7-79.pdf

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Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.

Human Genetics

Liu, Xue-Zhong XZ; Yuan, Yongyi Y; Yan, Denise D; Ding, Emilie Hong EH; Ouyang, Xiao Mei XM; Fei, Yu Y; Tang, Wenxue W; Yuan, Huijun H; Chang, Qing Q; Du, Li Lin LL; Zhang, Xin X; Wang, Guojian G; Ahmad, Shoeb S; Kang, Dong Yang DY; Lin, Xi X; Dai, Pu P

Publication Date: 2009-02

Variant appearance in text: GJB3: A194T

PubMed Link: 19050930

Variant Present in the following documents:

• Main text

View BVdb publication page

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