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: 9385C>T; Pro3129Ser

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: P3129S; rs200089754

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer.

Cancer Causes & Control : Ccc

Hercules, Shawn M SM; Liu, Xiyu X; Bassey-Archibong, Blessing B I BBI; Skeete, Desiree H A DHA; Smith Connell, Suzanne S; Daramola, Adetola A; Banjo, Adekunbiola A AA; Ebughe, Godwin G; Agan, Thomas T; Ekanem, Ima-Obong IO; Udosen, Joe J; Obiorah, Christopher C; Ojule, Aaron C AC; Misauno, Michael A MA; Dauda, Ayuba M AM; Egbujo, Ejike C EC; Hercules, Jevon C JC; Ansari, Amna A; Brain, Ian I; MacColl, Christine C; Xu, Yili Y; Jin, Yuxin Y; Chang, Sharon S; Carpten, John D JD; Bédard, André A; Pond, Greg R GR; Blenman, Kim R M KRM; Manojlovic, Zarko Z; Daniel, Juliet M JM

Publication Date: 2022-06

Variant appearance in text: KMT2D: 9385C>T; Pro3129Ser; rs200089754

PubMed Link: 35384527

Variant Present in the following documents:

• 10552_2022_1574_MOESM4_ESM.xlsx, sheet 6

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Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.

Journal For Immunotherapy Of Cancer

Labriola, Matthew Kyle MK; Zhu, Jason J; Gupta, Rajan T RT; McCall, Shannon S; Jackson, Jennifer J; Kong, Eric F EF; White, James R JR; Cerqueira, Gustavo G; Gerding, Kelly K; Simmons, John K JK; George, Daniel D; Zhang, Tian T

Publication Date: 2020-03

Variant appearance in text: KMT2D: P3129S

PubMed Link: 32221016

Variant Present in the following documents:

• jitc-2019-000319supp001.xlsx, sheet 1

View BVdb publication page