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: FGFR3: 1354G>T; Ala452Ser

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: rs3135893

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Molecular profiling-based decision for targeted therapies in IDH wild-type glioblastoma.

Neuro-Oncology Advances

Kessler, Tobias T; Berberich, Anne A; Casalini, Belen B; Drüschler, Katharina K; Ostermann, Hannah H; Dormann, Andrea A; Walter, Sandy S; Hai, Ling L; Schlesner, Matthias M; Herold-Mende, Christel C; Jungk, Christine C; Unterberg, Andreas A; Bendszus, Martin M; Sahm, Katharina K; von Deimling, Andreas A; Winkler, Frank F; Platten, Michael M; Wick, Wolfgang W; Sahm, Felix F; Wick, Antje A

Publication Date: 2020

Variant appearance in text: FGFR3: A452S

PubMed Link: 32642725

Variant Present in the following documents:

• vdz060_suppl_supplementary-table-s3.xlsx, sheet 1

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: FGFR3: A452S

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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Functional roles of fibroblast growth factor receptors (FGFRs) signaling in human cancers.

Apoptosis : An International Journal On Programmed Cell Death

Tiong, Kai Hung KH; Mah, Li Yen LY; Leong, Chee-Onn CO

Publication Date: 2013-12

Variant appearance in text: FGFR3: A452S

PubMed Link: 23900974

Variant Present in the following documents:

• Main text

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