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: 7068T>G; Asn2356Lys

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: USH2A: 7068T>G; Asn2356Lys

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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Molecular etiology study of hearing loss in 13 Chinese Han families.

Frontiers In Neurology

Sun, Lianhua L; Lin, Zhengyu Z; Wang, Xiaowen X; Shen, Jiali J; Li, Yue Y; Huang, Yuyu Y; Yang, Jun J

Publication Date: 2022

Variant appearance in text: USH2A: 7068T>G

PubMed Link: 36504663

Variant Present in the following documents:

• Main text
• fneur-13-1048218.pdf

View BVdb publication page

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Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Frontiers In Genetics

Maltese, Paolo Enrico PE; Colombo, Leonardo L; Martella, Salvatore S; Rossetti, Luca L; El Shamieh, Said S; Sinibaldi, Lorenzo L; Passarelli, Chiara C; Coppè, Andrea Maria AM; Buzzonetti, Luca L; Falsini, Benedetto B; Chiurazzi, Pietro P; Placidi, Giorgio G; Tanzi, Benedetta B; Bertelli, Matteo M; Iarossi, Giancarlo G

Publication Date: 2022

Variant appearance in text: USH2A: 7068T>G; Asn2356Lys; rs200038092

PubMed Link: 35836572

Variant Present in the following documents:

• Table1.xlsx, sheet 2
• Table1.xlsx, sheet 5

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: rs200038092

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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Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Jci Insight

Tang, Clara Sze Man CSM; Mononen, Mimmi M; Lam, Wai-Yee WY; Jin, Sheng Chih SC; Zhuang, Xuehan X; Garcia-Barcelo, Maria-Mercè MM; Lin, Qiongfen Q; Yang, Yujia Y; Sahara, Makoto M; Eroglu, Elif E; Chien, Kenneth R KR; Hong, Haifa H; Tam, Paul Kwong Hang PKH; Gruber, Peter J PJ

Publication Date: 2022-01-25

Variant appearance in text: USH2A: 7068T>G; Asn2356Lys

PubMed Link: 34905512

Variant Present in the following documents:

• jciinsight-7-152198-s012.xlsx, sheet 7

View BVdb publication page

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Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Human Genetics

Florentine, Michelle M MM; Rouse, Stephanie L SL; Stephans, Jihyun J; Conrad, David D; Czechowicz, Josephine J; Matthews, Ian R IR; Meyer, Anna K AK; Nadaraja, Garani S GS; Parikh, Rajan R; Virbalas, Jordan J; Weinstein, Jacqueline E JE; Chan, Dylan K DK

Publication Date: 2022-04

Variant appearance in text: USH2A: 7068T>G; N2356K

PubMed Link: 34515852

Variant Present in the following documents:

• 439_2021_2338_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders.

Human Reproduction (Oxford, England)

Oud, M S MS; Houston, B J BJ; Volozonoka, L L; Mastrorosa, F K FK; Holt, G S GS; Alobaidi, B K S BKS; deVries, P F PF; Astuti, G G; Ramos, L L; Mclachlan, R I RI; O'Bryan, M K MK; Veltman, J A JA; Chemes, H E HE; Sheth, H H

Publication Date: 2021-08-18

Variant appearance in text: USH2A: 7068T>G; Asn2356Lys

PubMed Link: 34089056

Variant Present in the following documents:

• deab099_supplementary_tables3.pdf

View BVdb publication page

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Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Bmc Medical Genomics

Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG

Publication Date: 2021-03-10

Variant appearance in text: USH2A: N2356K

PubMed Link: 33691693

Variant Present in the following documents:

• 12920_2021_874_MOESM1_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: 7068T>G; Asn2356Lys

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: N2356K

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: 7068T>G; Asn2356Lys; rs200038092

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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Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy.

International Journal Of Ophthalmology

Liu, Xiao-Zhen XZ; Tao, Tian-Chang TC; Qi, Hong H; Feng, Shan-Na SN; Chen, Ning-Ning NN; Zhao, Lin L; Ma, Zhi-Zhong ZZ; Li, Gen-Lin GL; Yang, Li-Ping LP

Publication Date: 2020

Variant appearance in text: USH2A: 7068T>G; N2356K

PubMed Link: 32090030

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Gut

Li, Jingyun J; Wang, Rui R; Zhou, Xin X; Wang, Wendong W; Gao, Shuai S; Mao, Yunuo Y; Wu, Xinglong X; Guo, Limei L; Liu, Haijing H; Wen, Lu L; Fu, Wei W; Tang, Fuchou F

Publication Date: 2020-07

Variant appearance in text: USH2A: Asn2356Lys

PubMed Link: 31744909

Variant Present in the following documents:

• gutjnl-2019-319438supp006.xlsx, sheet 3
• gutjnl-2019-319438supp006.xlsx, sheet 4

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: 7068T>G; Asn2356Lys

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa.

Molecular Vision

Xiao, Xiaoqiang X; Cao, Yingjie Y; Chen, Shaowan S; Chen, Min M; Mai, Xiaoting X; Zheng, Yuqian Y; Zhuang, Xi X; Ng, Tsz Kin TK; Chen, Haoyu H

Publication Date: 2019

Variant appearance in text: USH2A: Asn2356Lys; rs200038092

PubMed Link: 30804660

Variant Present in the following documents:

• Main text
• mv-v25-35.pdf

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: USH2A: 7068T>G; Asn2356Lys

PubMed Link: 30245029

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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: N/A

PubMed Link: 29899460

Variant Present in the following documents:

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: USH2A: 7068T>G; N2356K

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics

Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y

Publication Date: 2016-04

Variant appearance in text: N/A

PubMed Link: 27093186

Variant Present in the following documents:

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: 7068T>G; N2356K; rs200038092

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: USH2A: N2356K

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Plos One

Miyagawa, Maiko M; Naito, Takehiko T; Nishio, Shin-ya SY; Kamatani, Naoyuki N; Usami, Shin-ichi S

Publication Date: 2013

Variant appearance in text: USH2A: 7068T>G; N2356K

PubMed Link: 23967202

Variant Present in the following documents:

• pone.0071381.s004.pdf

View BVdb publication page

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