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: KMT2D: 2204G>T; Cys735Phe

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: KMT2D: C735F; rs772901550

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.

Cancer Genetics

Ji, Jianling J; Navid, Fariba F; Hiemenz, Mathew C MC; Kaneko, Maki M; Zhou, Shengmei S; Saitta, Sulagna C SC; Biegel, Jaclyn A JA

Publication Date: 2019-02

Variant appearance in text: KMT2D: 2204G>T; Cys735Phe

PubMed Link: 30803559

Variant Present in the following documents:

• Main text

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