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: 14404T>G; Ser4802Ala

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: rs200375504

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Genomic profiling of multiple sequentially acquired tumor metastatic sites from an "exceptional responder" lung adenocarcinoma patient reveals extensive genomic heterogeneity and novel somatic variants driving treatment response.

Cold Spring Harbor Molecular Case Studies

Biswas, Romi R; Gao, Shaojian S; Cultraro, Constance M CM; Maity, Tapan K TK; Venugopalan, Abhilash A; Abdullaev, Zied Z; Shaytan, Alexey K AK; Carter, Corey A CA; Thomas, Anish A; Rajan, Arun A; Song, Young Y; Pitts, Stephanie S; Chen, Kevin K; Bass, Sara S; Boland, Joseph J; Hanada, Ken-Ichi KI; Chen, Jinqiu J; Meltzer, Paul S PS; Panchenko, Anna R AR; Yang, James C JC; Pack, Svetlana S; Giaccone, Giuseppe G; Schrump, David S DS; Khan, Javed J; Guha, Udayan U

Publication Date: 2016-11

Variant appearance in text: USH2A: S4802A; rs200375504

PubMed Link: 27900369

Variant Present in the following documents:

• supp_mcs.a001263_SuppTable_S5.xlsx, sheet 3

View BVdb publication page