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: 13711G>A; Glu4571Lys

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: rs751411512

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

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Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis.

Endocrinology And Metabolism (Seoul, Korea)

Kim, Mijin M; Kwon, Chae Hwa CH; Jang, Min Hee MH; Kim, Jeong Mi JM; Kim, Eun Heui EH; Jeon, Yun Kyung YK; Kim, Sang Soo SS; Choi, Kyung-Un KU; Kim, In Joo IJ; Park, Meeyoung M; Kim, Bo Hyun BH

Publication Date: 2021-10

Variant appearance in text: USH2A: E4571K

PubMed Link: 34731936

Variant Present in the following documents:

• Main text
• enm-2021-1132.pdf

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Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.

Human Molecular Genetics

Kunstman, John W JW; Juhlin, C Christofer CC; Goh, Gerald G; Brown, Taylor C TC; Stenman, Adam A; Healy, James M JM; Rubinstein, Jill C JC; Choi, Murim M; Kiss, Nimrod N; Nelson-Williams, Carol C; Mane, Shrikant S; Rimm, David L DL; Prasad, Manju L ML; Höög, Anders A; Zedenius, Jan J; Larsson, Catharina C; Korah, Reju R; Lifton, Richard P RP; Carling, Tobias T

Publication Date: 2015-04-15

Variant appearance in text: USH2A: E4571K

PubMed Link: 25576899

Variant Present in the following documents:

• Main text

View BVdb publication page