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: 15496A>G; Ile5166Val

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: rs111033419

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

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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: I5166V

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: USH2A: I5166V

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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Comparative genomic analysis of primary tumors and metastases in breast cancer.

Oncotarget

Bertucci, François F; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Garnier, Séverine S; Carbuccia, Nadine N; Monneur, Audrey A; Charafe-Jauffret, Emmanuelle E; Goncalves, Anthony A; Viens, Patrice P; Birnbaum, Daniel D; Chaffanet, Max M

Publication Date: 2016-05-10

Variant appearance in text: USH2A: I5166V

PubMed Link: 27028851

Variant Present in the following documents:

• oncotarget-07-27208-s001.pdf

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