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: 13283G>T; Gly4428Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: USH2A: G4428V

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Natural and cryptic peptides dominate the immunopeptidome of atypical teratoid rhabdoid tumors.

Journal For Immunotherapy Of Cancer

Marcu, Ana A; Schlosser, Andreas A; Keupp, Anne A; Trautwein, Nico N; Johann, Pascal P; Wölfl, Matthias M; Lager, Johanna J; Monoranu, Camelia Maria CM; Walz, Juliane S JS; Henkel, Lisa M LM; Krauß, Jürgen J; Ebinger, Martin M; Schuhmann, Martin M; Thomale, Ulrich Wilhelm UW; Pietsch, Torsten T; Klinker, Erdwine E; Schlegel, Paul G PG; Oyen, Florian F; Reisner, Yair Y; Rammensee, Hans-Georg HG; Eyrich, Matthias M

Publication Date: 2021-10

Variant appearance in text: USH2A: G4428V

PubMed Link: 34599019

Variant Present in the following documents:

• jitc-2021-003404supp008.pdf

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