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: 9958G>T; Gly3320Cys

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: 9958G>T; Gly3320Cys

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: 9958G>T

PubMed Link: 36362125

Variant Present in the following documents:

• Main text
• ijms-23-13343.pdf

View BVdb publication page

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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: 9958G>T

PubMed Link: 36110214

Variant Present in the following documents:

• Main text
• fgene-13-900548.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: G3320C

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

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

Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-06

Variant appearance in text: USH2A: 9958G>T; Gly3320Cys

PubMed Link: 32037395

Variant Present in the following documents:

• 41436_2020_759_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.

Molecular Genetics & Genomic Medicine

Dan, Handong H; Huang, Xin X; Xing, Yiqiao Y; Shen, Yin Y

Publication Date: 2020-03

Variant appearance in text: USH2A: 9958G>T; Gly3320Cys

PubMed Link: 31960602

Variant Present in the following documents:

• Main text
• MGG3-8-e1131.pdf

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: 9958G>T; G3320C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Orphanet Journal Of Rare Diseases

Jiang, Lichun L; Liang, Xiaofang X; Li, Yumei Y; Wang, Jing J; Zaneveld, Jacques Eric JE; Wang, Hui H; Xu, Shan S; Wang, Keqing K; Wang, Binbin B; Chen, Rui R; Sui, Ruifang R

Publication Date: 2015-09-04

Variant appearance in text: USH2A: G3320C

PubMed Link: 26338283

Variant Present in the following documents:

• Main text
• 13023_2015_Article_329.pdf

View BVdb publication page

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Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

Plos One

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

Publication Date: 2014

Variant appearance in text: USH2A: G3320C

PubMed Link: 25133613

Variant Present in the following documents:

• Main text
• pone.0105439.pdf

View BVdb publication page

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