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: 14287G>A; Gly4763Arg

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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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: USH2A: 14287G>A; Gly4763Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.

Molecular Vision

Shen, Chang C; You, Bing B; Chen, Yu-Ning YN; Li, Yang Y; Li, Wei W; Wei, Wen-Bin WB

Publication Date: 2022

Variant appearance in text: USH2A: G4763R

PubMed Link: 35814500

Variant Present in the following documents:

• Main text
• mv-v28-96.pdf

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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: USH2A: 14287G>A; G4763R; rs397517990

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.

Journal Of Ophthalmology

Kim, You Na YN; Kim, Yoon Jeon YJ; Seol, Chang Ahn CA; Seo, Eul-Ju EJ; Lee, Joo Yong JY; Yoon, Young Hee YH

Publication Date: 2021

Variant appearance in text: USH2A: 14287G>A; Gly4763Arg

PubMed Link: 34721897

Variant Present in the following documents:

• Main text
• joph2021-5067271.pdf

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: 14287G>A; G4763R

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: 14287G>A; Gly4763Arg

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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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: G4763R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

Scientific Reports

Sengillo, Jesse D JD; Cabral, Thiago T; Schuerch, Kaspar K; Duong, Jimmy J; Lee, Winston W; Boudreault, Katherine K; Xu, Yu Y; Justus, Sally S; Sparrow, Janet R JR; Mahajan, Vinit B VB; Tsang, Stephen H SH

Publication Date: 2017-09-11

Variant appearance in text: USH2A: Gly4763Arg; rs397517990

PubMed Link: 28894305

Variant Present in the following documents:

• Main text
• 41598_2017_11679_MOESM1_ESM.pdf
• 41598_2017_Article_11679.pdf

View BVdb publication page

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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

European Journal Of Human Genetics : Ejhg

Lenassi, Eva E; Vincent, Ajoy A; Li, Zheng Z; Saihan, Zubin Z; Coffey, Alison J AJ; Steele-Stallard, Heather B HB; Moore, Anthony T AT; Steel, Karen P KP; Luxon, Linda M LM; Héon, Elise E; Bitner-Glindzicz, Maria M; Webster, Andrew R AR

Publication Date: 2015-10

Variant appearance in text: USH2A: 14287G>A; Gly4763Arg

PubMed Link: 25649381

Variant Present in the following documents:

• Main text
• ejhg2014283a.pdf

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Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics

McGee, Terri L TL; Seyedahmadi, Babak Jian BJ; Sweeney, Meredith O MO; Dryja, Thaddeus P TP; Berson, Eliot L EL

Publication Date: 2010-07

Variant appearance in text: USH2: 14287G>A

PubMed Link: 20507924

Variant Present in the following documents:

• Main text

View BVdb publication page

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