Publications:

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: 7728G>C; Leu2576Phe

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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: rs151037142

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Multi-region exome sequencing reveals genomic evolution from preneoplasia to lung adenocarcinoma.

Nature Communications

Hu, Xin X; Fujimoto, Junya J; Ying, Lisha L; Fukuoka, Junya J; Ashizawa, Kazuto K; Sun, Wenyong W; Reuben, Alexandre A; Chow, Chi-Wan CW; McGranahan, Nicholas N; Chen, Runzhe R; Hu, Jinlin J; Godoy, Myrna C MC; Tabata, Kazuhiro K; Kuroda, Kishio K; Shi, Lei L; Li, Jun J; Behrens, Carmen C; Parra, Edwin Roger ER; Little, Latasha D LD; Gumbs, Curtis C; Mao, Xizeng X; Song, Xingzhi X; Tippen, Samantha S; Thornton, Rebecca L RL; Kadara, Humam H; Scheet, Paul P; Roarty, Emily E; Ostrin, Edwin Justin EJ; Wang, Xu X; Carter, Brett W BW; Antonoff, Mara B MB; Zhang, Jianhua J; Vaporciyan, Ara A AA; Pass, Harvey H; Swisher, Stephen G SG; Heymach, John V JV; Lee, J Jack JJ; Wistuba, Ignacio I II; Hong, Waun Ki WK; Futreal, P Andrew PA; Su, Dan D; Zhang, Jianjun J

Publication Date: 2019-07-05

Variant appearance in text: USH2A: L2576F; rs151037142

PubMed Link: 31278276

Variant Present in the following documents:

• 41467_2019_10877_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page