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: USH2A: 10859T>C; Ile3620Thr

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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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology

Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S

Publication Date: 2023

Variant appearance in text: USH2A: 10859T>C; Ile3620Thr

PubMed Link: 36819107

Variant Present in the following documents:

• Table4.xlsx, sheet 1

View BVdb publication page

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Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.

International Journal Of Molecular Sciences

Reurink, Janine J; Oostrik, Jaap J; Aben, Marco M; Ramos, Mariana Guimarães MG; van Berkel, Emma E; Ołdak, Monika M; van Wijk, Erwin E; Kremer, Hannie H; Roosing, Susanne S; Cremers, Frans P M FPM

Publication Date: 2022-11-01

Variant appearance in text: USH2A: 10859T>C

PubMed Link: 36362125

Variant Present in the following documents:

• ijms-23-13343.pdf

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Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.

Frontiers In Genetics

Li, Wei W; Jiang, Xiao-Sen XS; Han, Dong-Ming DM; Gao, Jia-Yu JY; Yang, Zheng-Tao ZT; Jiang, Li L; Zhang, Qian Q; Zhang, Sheng-Hai SH; Gao, Ya Y; Wu, Ji-Hong JH; Li, Jian-Kang JK

Publication Date: 2022

Variant appearance in text: USH2A: 10859T>C

PubMed Link: 36110214

Variant Present in the following documents:

• Main text
• fgene-13-900548.pdf

View BVdb publication page

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Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology

Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD

Publication Date: 2022-03-26

Variant appearance in text: rs779716464

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, 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: I3620T

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Human Genetics

Usami, Shin-Ichi SI; Nishio, Shin-Ya SY

Publication Date: 2022-04

Variant appearance in text: USH2A: 10859T>C; Ile3620Thr; rs779716464

PubMed Link: 34599366

Variant Present in the following documents:

• 439_2021_2371_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.

Bmc Medical Genomics

Bai, Zhouxian Z; Xie, Yanchuan Y; Liu, Lina L; Shao, Jingzhi J; Liu, Yuying Y; Kong, Xiangdong X

Publication Date: 2021-03-29

Variant appearance in text: USH2A: I3620T

PubMed Link: 33781268

Variant Present in the following documents:

• Main text
• 12920_2021_Article_935.pdf

View BVdb publication page

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Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Npj Genomic Medicine

Chen, Ta-Ching TC; Huang, Ding-Siang DS; Lin, Chao-Wen CW; Yang, Chang-Hao CH; Yang, Chung-May CM; Wang, Victoria Y VY; Lin, Jou-Wei JW; Luo, Allen Chilun AC; Hu, Fung-Rong FR; Chen, Pei-Lung PL

Publication Date: 2021-02-19

Variant appearance in text: USH2A: 10859T>C; Ile3620Thr

PubMed Link: 33608557

Variant Present in the following documents:

• 41525_2021_180_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.

International Journal Of Molecular Sciences

Inaba, Akira A; Maeda, Akiko A; Yoshida, Akiko A; Kawai, Kanako K; Hirami, Yasuhiko Y; Kurimoto, Yasuo Y; Kosugi, Shinji S; Takahashi, Masayo M

Publication Date: 2020-10-22

Variant appearance in text: USH2A: 10859T>C; Ile3620Thr

PubMed Link: 33105608

Variant Present in the following documents:

• Main text
• ijms-21-07817.pdf

View BVdb publication page

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A novel statistical method for interpreting the pathogenicity of rare variants.

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

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: USH2A: I3620T

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: USH2A: 10859T>C; Ile3620Thr; rs779716464

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.

Bioscience Reports

Qu, Ling-Hui LH; Jin, Xin X; Long, Yan-Ling YL; Ren, Jia-Yun JY; Weng, Chuang-Huang CH; Xu, Hai-Wei HW; Liu, Yong Y; Meng, Xiao-Hong XH; Li, Shi-Ying SY; Yin, Zheng-Qin ZQ

Publication Date: 2020-01-31

Variant appearance in text: USH2A: 10859T>C; I3620T

PubMed Link: 31904091

Variant Present in the following documents:

• Main text
• bsr-40-bsr20193536.pdf

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: USH2A: 10859T>C; Ile3620Thr

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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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: USH2A: 10859T>C; Ile3620Thr

PubMed Link: 30733538

Variant Present in the following documents:

• 41598_2018_38245_MOESM1_ESM.pdf

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: I3620T

PubMed Link: 26496393

Variant Present in the following documents:

• Main text
• pone.0140684.s004.xlsx, sheet 3
• pone.0140684.pdf
• pone.0140684.s004.xlsx, sheet 4

View BVdb publication page

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Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

Plos One

Katagiri, Satoshi S; Akahori, Masakazu M; Sergeev, Yuri Y; Yoshitake, Kazutoshi K; Ikeo, Kazuho K; Furuno, Masaaki M; Hayashi, Takaaki T; Kondo, Mineo M; Ueno, Shinji S; Tsunoda, Kazushige K; Shinoda, Kei K; Kuniyoshi, Kazuki K; Tsurusaki, Yohinori Y; Matsumoto, Naomichi N; Tsuneoka, Hiroshi H; Iwata, Takeshi T

Publication Date: 2014

Variant appearance in text: USH2A: I3620T

PubMed Link: 25268133

Variant Present in the following documents:

• Main text
• pone.0108721.pdf

View BVdb publication page

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