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: 15457G>T; Asp5153Tyr

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: D5153Y; rs200727661

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.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: rs200727661

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

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Mixed ductal-lobular carcinomas: evidence for progression from ductal to lobular morphology.

The Journal Of Pathology

McCart Reed, Amy E AE; Kutasovic, Jamie R JR; Nones, Katia K; Saunus, Jodi M JM; Da Silva, Leonard L; Newell, Felicity F; Kazakoff, Stephen S; Melville, Lewis L; Jayanthan, Janani J; Vargas, Ana Cristina AC; Reid, Lynne E LE; Beesley, Jonathan J; Chen, Xiao Qing XQ; Patch, Anne-Marie AM; Clouston, David D; Porter, Alan A; Evans, Elizabeth E; Pearson, John V JV; Chenevix-Trench, Georgia G; Cummings, Margaret C MC; Waddell, Nicola N; Lakhani, Sunil R SR; Simpson, Peter T PT

Publication Date: 2018-04

Variant appearance in text: rs200727661

PubMed Link: 29344954

Variant Present in the following documents:

• PATH-244-460-s008.xlsx, sheet 3

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