Publications:

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The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia).

Genes

Pshennikova, Vera G VG; Teryutin, Fedor M FM; Cherdonova, Alexandra M AM; Borisova, Tuyara V TV; Solovyev, Aisen V AV; Romanov, Georgii P GP; Morozov, Igor V IV; Bondar, Alexander A AA; Posukh, Olga L OL; Fedorova, Sardana A SA; Barashkov, Nikolay A NA

Publication Date: 2023-04-28

Variant appearance in text: GJB2: V27I; rs2274084

PubMed Link: 37239361

Variant Present in the following documents:

• Main text
• genes-14-01001.pdf

View BVdb publication page

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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: 79G>A; Val27Ile

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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Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report.

World Journal Of Clinical Cases

Liao, Ming-Yi MY; Peng, Hui H; Li, Long-Nian LN; Yang, Tao T; Xiong, Shi-Yin SY; Ye, Xiao-Ying XY

Publication Date: 2023-02-26

Variant appearance in text: GJB2: V27I

PubMed Link: 36926140

Variant Present in the following documents:

• WJCC-11-1403.pdf

View BVdb publication page

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Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.

Journal Of Personalized Medicine

Markova, Tatiana T; Alekseeva, Natalia N; Lalayants, Maria M; Ryzhkova, Oxana O; Shatokhina, Olga O; Galeeva, Nailya N; Bliznetz, Elena E; Belov, Oleg O; Chibisova, Svetlana S; Polyakov, Alexander A; Tavartkiladze, George G

Publication Date: 2022-11-04

Variant appearance in text: GJB2: Val27Ile

PubMed Link: 36579563

Variant Present in the following documents:

• jpm-12-01843.pdf

View BVdb publication page

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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: GJB2: 79G>A; Val27Ile; rs2274084

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: GJB2: 79G>A; V27I; rs2274084

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

View BVdb publication page

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Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness.

Frontiers In Genetics

Tian, Xinyuan X; Zhang, Chuan C; Zhou, Bingbo B; Chen, Xue X; Feng, Xuan X; Zheng, Lei L; Wang, Yupei Y; Hao, Shengju S; Hui, Ling L

Publication Date: 2022

Variant appearance in text: GJB2: 79G>A; V27I

PubMed Link: 35938034

Variant Present in the following documents:

• Main text
• fgene-13-938639.pdf

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: GJB2: 79G>A; Val27Ile; rs2274084

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, 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: 79G>A

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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Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Frontiers In Cell And Developmental Biology

Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP

Publication Date: 2021

Variant appearance in text: GJB2: 79G>A; V27I; rs2274084

PubMed Link: 34692690

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.

Journal Of Clinical Laboratory Analysis

Abbaspour Rodbaneh, Ehsan E; Panahi, Mohammad M; Rahimi, Bahareh B; Mokabber, Haleh H; Farajollahi, Reza R; Davarnia, Behzad B

Publication Date: 2021-11

Variant appearance in text: GJB2: 79G>A

PubMed Link: 34581455

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss.

F1000Research

Hu, Sijing S; Zhang, Hao H; Liu, Yunqiang Y; Liu, Mohan M; Li, Jingjing J; Liao, Shunyao S

Publication Date: 2021

Variant appearance in text: GJB2: 79G>A; rs2274084

PubMed Link: 34567527

Variant Present in the following documents:

• Main text
• f1000research-10-57079.pdf

View BVdb publication page

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Machine learning-based genetic diagnosis models for hereditary hearing loss by the GJB2, SLC26A4 and MT-RNR1 variants.

Ebiomedicine

Luo, Xiaomei X; Li, Fengmei F; Xu, Wenchang W; Hong, Kaicheng K; Yang, Tao T; Chen, Jiansheng J; Chen, Xiaohe X; Wu, Hao H

Publication Date: 2021-07

Variant appearance in text: GJB2: V27I

PubMed Link: 34161886

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: GJB2: V27I; rs2274084

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: GJB2: V27I

PubMed Link: 33708733

Variant Present in the following documents:

• Main text
• IJPH-49-2128.pdf

View BVdb publication page

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Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine

Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y

Publication Date: 2021-01

Variant appearance in text: GJB2: V27I; rs2274084

PubMed Link: 33463056

Variant Present in the following documents:

• CTM2-11-e285-s003.xlsx, sheet 9

View BVdb publication page

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Genetics of Hearing Impairment in North-Eastern Romania-A Cost-Effective Improved Diagnosis and Literature Review.

Genes

Resmerita, Irina I; Cozma, Romica Sebastian RS; Popescu, Roxana R; Radulescu, Luminita Mihaela LM; Panzaru, Monica Cristina MC; Butnariu, Lacramioara Ionela LI; Caba, Lavinia L; Ilie, Ovidiu-Dumitru OD; Gavril, Eva-Cristiana EC; Gorduza, Eusebiu Vlad EV; Rusu, Cristina C

Publication Date: 2020-12-15

Variant appearance in text: GJB2: 79G>A; Val27Ile; rs2274084

PubMed Link: 33333757

Variant Present in the following documents:

• Main text
• genes-11-01506.pdf

View BVdb publication page

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GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.

Genes

Buonfiglio, Paula P; Bruque, Carlos D CD; Luce, Leonela L; Giliberto, Florencia F; Lotersztein, Vanesa V; Menazzi, Sebastián S; Paoli, Bibiana B; Elgoyhen, Ana Belén AB; Dalamón, Viviana V

Publication Date: 2020-10-21

Variant appearance in text: DFNB1: Val27Ile

PubMed Link: 33096615

Variant Present in the following documents:

• Main text

View BVdb publication page

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High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.

Genes

Zytsar, Marina V MV; Bady-Khoo, Marita S MS; Danilchenko, Valeriia Yu VY; Maslova, Ekaterina A EA; Barashkov, Nikolay A NA; Morozov, Igor V IV; Bondar, Alexander A AA; Posukh, Olga L OL

Publication Date: 2020-07-21

Variant appearance in text: GJB2: V27I; rs2274084

PubMed Link: 32708339

Variant Present in the following documents:

• Main text
• genes-11-00833.pdf

View BVdb publication page

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A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.

Ebiomedicine

Kuang, Yuanyuan Y; Zorzi, Veronica V; Buratto, Damiano D; Ziraldo, Gaia G; Mazzarda, Flavia F; Peres, Chiara C; Nardin, Chiara C; Salvatore, Anna Maria AM; Chiani, Francesco F; Scavizzi, Ferdinando F; Raspa, Marcello M; Qiang, Min M; Chu, Youjun Y; Shi, Xiaojie X; Li, Yu Y; Liu, Lili L; Shi, Yaru Y; Zonta, Francesco F; Yang, Guang G; Lerner, Richard A RA; Mammano, Fabio F

Publication Date: 2020-07

Variant appearance in text: GJB2: Val27Ile

PubMed Link: 32553574

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: GJB2: V27I; rs2274084

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.

Biomed Research International

Huang, Shasha S; Gao, Xue X; Wang, Yufeng Y; Kang, Dongyang D; Zhang, Xin X; Yang, Suyan S; Dai, Pu P

Publication Date: 2020

Variant appearance in text: GJB2: 79G>A

PubMed Link: 32090102

Variant Present in the following documents:

• 6370386.f1.xlsx, sheet 2
• 6370386.f1.xlsx, sheet 4

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: DFNB1: V27I

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 13

View BVdb publication page

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First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

Turkish Archives Of Otorhinolaryngology

Özyılmaz, Berk B; Mercan, Gül Caner GC; Kırbıyık, Özgür Ö; Özdemir, Taha Reşid TR; Özkara, Samira S; Kaya, Özge Özer ÖÖ; Kutbay, Yaşar Bekir YB; Erdoğan, Kadri Murat KM; Güvenç, Merve Saka MS; Koç, Altuğ A

Publication Date: 2019-09

Variant appearance in text: GJB2: 79G>A

PubMed Link: 31620696

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations.

Journal Of Audiology & Otology

Koohiyan, Mahbobeh M; Azadegan-Dehkordi, Fatemeh F; Koohian, Farideh F; Hashemzadeh-Chaleshtori, Morteza M

Publication Date: 2019-10

Variant appearance in text: GJB2: 79G>A

PubMed Link: 31569309

Variant Present in the following documents:

• Main text
• jao-2019-00059.pdf

View BVdb publication page

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Genetics of hereditary hearing loss in east Iran population: A systematic review of GJB2 mutations.

Intractable & Rare Diseases Research

Koohiyan, Mahbobeh M; Azadegan-Dehkordi, Fatemeh F; Koohian, Farideh F; Abolhasani, Marziye M; Hashemzadeh-Chaleshtori, Morteza M

Publication Date: 2019-08

Variant appearance in text: GJB2: 79G>A

PubMed Link: 31523594

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population.

Genes

Figueroa-Ildefonso, Erick E; Bademci, Guney G; Rajabli, Farid F; Cornejo-Olivas, Mario M; Villanueva, Ruy Diego Chacón RDC; Badillo-Carrillo, Rodolfo R; Inca-Martinez, Miguel M; Neyra, Karina Milla KM; Sineni, Claire C; Tekin, Mustafa M

Publication Date: 2019-07-31

Variant appearance in text: GJB2: 79G>A; Val27Ile

PubMed Link: 31370293

Variant Present in the following documents:

• genes-10-00581-s001.pdf

View BVdb publication page

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Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).

Genes

Posukh, Olga L OL; Zytsar, Marina V MV; Bady-Khoo, Marita S MS; Danilchenko, Valeria Yu VY; Maslova, Ekaterina A EA; Barashkov, Nikolay A NA; Bondar, Alexander A AA; Morozov, Igor V IV; Maximov, Vladimir N VN; Voevoda, Michael I MI

Publication Date: 2019-06-05

Variant appearance in text: GJB2: 79G>A; Val27Ile; rs2274084

PubMed Link: 31195736

Variant Present in the following documents:

• Main text

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: GJB2: 79G>A; Val27Ile; rs2274084

PubMed Link: 31015822

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gap Junction Protein Beta 2 Gene Variants and Non-Syndromic Hearing Impairment among Couples Referred For Prenatal Diagnosis in the Northeast of Iran.

Iranian Journal Of Otorhinolaryngology

Vojdani, Samaneh S; Jafarzadeh Esfehani, Reza R; Iranmanesh, Vahid V; Davari, Hafezeh H; Amini, Nafiseh N; Jaripour, Mohammad Ehsan ME; Zargari, Peyman P; Dastpak, Mahtab M; Sadrnabavi, Ariane A

Publication Date: 2019-03

Variant appearance in text: GJB2: 79G>A; Val27Ile; rs2274084

PubMed Link: 30989077

Variant Present in the following documents:

• Main text
• ijo-31-109.pdf

View BVdb publication page

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The human ATF1 rs11169571 polymorphism associated with risk of nasopharyngeal carcinoma in Southern Chinese populations.

Cancer Medicine

Peng, Shutang S; Huang, Guo-Liang GL; Xu, Nansong N; Lu, Yan Y; Zeng, Liuyan L; Li, Xin X; Luo, Shengqun S; Lyu, Xiaoming X; Jiang, Qiang Q; Li, Tong T; He, Zhiwei Z

Publication Date: 2019-04

Variant appearance in text: rs2274084

PubMed Link: 30905073

Variant Present in the following documents:

• Main text

View BVdb publication page

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Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease.

Frontiers In Genetics

Gallego-Martinez, Alvaro A; Requena, Teresa T; Roman-Naranjo, Pablo P; Lopez-Escamez, Jose A JA

Publication Date: 2019

Variant appearance in text: GJB2: Val27Ile; rs2274084

PubMed Link: 30828346

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.

Molecular Genetics & Genomic Medicine

Zhou, Yongan Y; Li, Chao C; Li, Min M; Zhao, Zhonghua Z; Tian, Shuxiong S; Xia, Hou H; Liu, Peixian P; Han, Yaxin Y; Ren, Ruirui R; Chen, Jianping J; Jia, Caihong C; Guo, Wei W

Publication Date: 2019-03

Variant appearance in text: GJB2: 79G>A; V27I

PubMed Link: 30693673

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

View BVdb publication page

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GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.

International Journal Of Dermatology

Shi, Xiaofeng X; Li, Dongya D; Chen, Min M; Liu, Yichen Y; Yan, Qi Q; Yu, Xianqiu X; Zhu, Yan Y; Li, Yumei Y

Publication Date: 2019-12

Variant appearance in text: GJB2: 79G>A; V27I

PubMed Link: 30620052

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: GJB2: V27I; rs2274084

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs2274084

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: V27I

PubMed Link: 30466042

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.

Clinical Case Reports

Abe, Satoko S; Nishio, Shin-Ya SY; Yokota, Yoh Y; Moteki, Hideaki H; Kumakawa, Kozo K; Usami, Shin-Ichi SI

Publication Date: 2018-11

Variant appearance in text: GJB2: V27I

PubMed Link: 30455902

Variant Present in the following documents:

• Main text
• CCR3-6-2111.pdf

View BVdb publication page

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Spectrum of GJB2 gene variants in Indian children with non-syndromic hearing loss.

The Indian Journal Of Medical Research

Singh, Pawan Kumar PK; Sharma, Shipra S; Ghosh, Manju M; Shastri, Shivaram S SS; Gupta, Neerja N; Kabra, Madhulika M

Publication Date: 2018-06

Variant appearance in text: GJB2: 79G>A

PubMed Link: 30168495

Variant Present in the following documents:

• Main text
• IJMR-147-615.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: GJB2: 79G>A; V27I; rs2274084

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: GJB2: V27I; rs2274084

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM20_ESM.xlsx, sheet 2
• 41467_2017_2688_MOESM14_ESM.xls, sheet 4

View BVdb publication page

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

Frontiers In Molecular Neuroscience

Del Castillo, Francisco J FJ; Del Castillo, Ignacio I

Publication Date: 2017

Variant appearance in text: DFNB1: Val27Ile

PubMed Link: 29311818

Variant Present in the following documents:

• Main text

View BVdb publication page

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c.464A>G variation in the GJB2 gene is detected in a Han Chinese family.

Clinical Case Reports

Zhu, Gang-Hua GH; Shu, Hong-Ying HY; Zhou, Hai-Yan HY; Chen, Yong Y; Zhou, Fei F; Ni, Bin B; Xie, Wanqin W

Publication Date: 2017-11

Variant appearance in text: GJB2: 79G>A

PubMed Link: 29152271

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.

International Journal Of Molecular Sciences

Kim, Ah Reum AR; Chung, Juyong J; Kim, Nayoung K D NKD; Lee, Chung C; Park, Woong-Yang WY; Oh, Doo-Yi DY; Choi, Byung Yoon BY

Publication Date: 2017-10-26

Variant appearance in text: GJB2: V27I

PubMed Link: 29072634

Variant Present in the following documents:

• Main text
• ijms-18-02246.pdf

View BVdb publication page

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Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.

Scientific Reports

Cho, Yangrae Y; Lee, Chul-Ho CH; Jeong, Eun-Goo EG; Kim, Min-Ho MH; Hong, Jong Hui JH; Ko, Younhee Y; Lee, Bomnun B; Yun, Gilly G; Kim, Byong Joon BJ; Jung, Jongcheol J; Jung, Jongsun J; Lee, Jin-Sung JS

Publication Date: 2017-08-29

Variant appearance in text: GJB2: Val27Ile

PubMed Link: 28851938

Variant Present in the following documents:

• Main text
• 41598_2017_9247_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2274084

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: GJB2: 79G>A; Val27Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: GJB2: V27I; rs2274084

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.

Oncotarget

Shen, Na N; Peng, Jing J; Wang, Xiong X; Zhu, Yaowu Y; Liu, Weiyong W; Liu, Aiguo A; Lu, Yanjun Y

Publication Date: 2017-07-11

Variant appearance in text: GJB2: 79G>A; V27I

PubMed Link: 28489599

Variant Present in the following documents:

• Main text

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Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases.

Balkan Journal Of Medical Genetics : Bjmg

Xing, J J; Liu, X X; Tian, Y Y; Tan, J J; Zhao, H H

Publication Date: 2016-07-01

Variant appearance in text: GJB2: V27I

PubMed Link: 27785406

Variant Present in the following documents:

• Main text
• bjmg-2016-0005.pdf

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: GJB2: V27I

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: GJB2: V27I

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 3

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