Publications:

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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: USH2A: T4204T; rs2797235

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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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.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: USH2A: T4204T; rs2797235

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

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: USH2A: Thr4204=; rs2797235

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: USH2A: T4204T

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

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: USH2A: T4204T; rs2797235

PubMed Link: 34692690

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: USH2A: T4204T; rs2797235

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

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: USH2A: T4204T; rs2797235

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: USH2A: Thr4204=; rs2797235

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_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: USH2A: T4204T; rs2797235

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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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: USH2A: T4204T; rs2797235

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 6
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

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Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.

Eye (London, England)

Huang, Lulin L; Mao, Yao Y; Yang, Jiyun J; Li, Yuanfeng Y; Li, Yang Y; Yang, Zhenglin Z

Publication Date: 2018-10

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 29899460

Variant Present in the following documents:

• 41433_2018_130_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: USH2A: Thr4204=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5
• pone.0140684.s004.xlsx, sheet 1
• pone.0140684.s004.xlsx, sheet 4
• pone.0140684.s004.xlsx, sheet 2

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

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Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.

Plos One

Rong, Weining W; Chen, Xue X; Zhao, Kanxing K; Liu, Yani Y; Liu, Xiaoxing X; Ha, Shaoping S; Liu, Wenzhou W; Kang, Xiaoli X; Sheng, Xunlun X; Zhao, Chen C

Publication Date: 2014

Variant appearance in text: USH2A: T4204T

PubMed Link: 24831256

Variant Present in the following documents:

• pone.0097808.s003.xlsx, sheet 1

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Orphanet Journal Of Rare Diseases

Garcia-Garcia, Gema G; Aparisi, Maria J MJ; Jaijo, Teresa T; Rodrigo, Regina R; Leon, Ana M AM; Avila-Fernandez, Almudena A; Blanco-Kelly, Fiona F; Bernal, Sara S; Navarro, Rafael R; Diaz-Llopis, Manuel M; Baiget, Montserrat M; Ayuso, Carmen C; Millan, Jose M JM; Aller, Elena E

Publication Date: 2011-10-17

Variant appearance in text: N/A

PubMed Link: 22004887

Variant Present in the following documents:

View BVdb publication page

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Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

Molecular Vision

Xu, Wenjun W; Dai, Hanjun H; Lu, Tingting T; Zhang, Xiaohui X; Dong, Bing B; Li, Yang Y

Publication Date: 2011

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 21686329

Variant Present in the following documents:

• mv-v17-1537.pdf

View BVdb publication page

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The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

European Journal Of Human Genetics : Ejhg

Aller, Elena E; Larrieu, Lise L; Jaijo, Teresa T; Baux, David D; Espinós, Carmen C; González-Candelas, Fernando F; Nájera, Carmen C; Palau, Francesc F; Claustres, Mireille M; Roux, Anne-Françoise AF; Millán, José M JM

Publication Date: 2010-07

Variant appearance in text: USH2A: T4204T; rs2797235

PubMed Link: 20145675

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Journal Of Human Genetics

Yan, Denise D; Ouyang, Xiaomei X; Patterson, D Michael DM; Du, Li Lin LL; Jacobson, Samuel G SG; Liu, Xue-Zhong XZ

Publication Date: 2009-12

Variant appearance in text: N/A

PubMed Link: 19881469

Variant Present in the following documents:

View BVdb publication page

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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Molecular Vision

Dai, Hanjun H; Zhang, Xiaohui X; Zhao, Xin X; Deng, Ting T; Dong, Bing B; Wang, Jingzhao J; Li, Yang Y

Publication Date: 2008

Variant appearance in text: USH2A: T4204T

PubMed Link: 19023448

Variant Present in the following documents:

• Main text
• mv-v14-2067.pdf

View BVdb publication page

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