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: 7411C>T; Leu2471Phe

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: rs775824145

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Molecular profiling of endometrial carcinoma precursor, primary and metastatic lesions suggests different targets for treatment in obese compared to non-obese patients.

Oncotarget

Berg, Anna A; Hoivik, Erling A EA; Mjøs, Siv S; Holst, Frederik F; Werner, Henrica M J HM; Tangen, Ingvild L IL; Taylor-Weiner, Amaro A; Gibson, William J WJ; Kusonmano, Kanthida K; Wik, Elisabeth E; Trovik, Jone J; Halle, Mari K MK; Øyan, Anne M AM; Kalland, Karl-Henning KH; Cherniack, Andrew D AD; Beroukhim, Rameen R; Stefansson, Ingunn I; Mills, Gordon B GB; Krakstad, Camilla C; Salvesen, Helga B HB

Publication Date: 2015-01-20

Variant appearance in text: USH2A: 7411C>T

PubMed Link: 25415225

Variant Present in the following documents:

• oncotarget-06-1327-s002.xlsx, sheet 1

View BVdb publication page