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: 2039C>T; Thr680Met

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Oral cancer prediction by noninvasive genetic screening.

International Journal Of Cancer

Poell, Jos B JB; Wils, Leon J LJ; Brink, Arjen A; Dietrich, Ralf R; Krieg, Christine C; Velleuer, Eunike E; Evren, Ilkay I; Brouns, Elisabeth R ER; de Visscher, Jan G JG; Bloemena, Elisabeth E; Ylstra, Bauke B; Brakenhoff, Ruud H RH

Publication Date: 2023-01-15

Variant appearance in text: KMT2D: Thr680Met

PubMed Link: 36069231

Variant Present in the following documents:

• IJC-152-227-s003.pdf

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Genomic profiling of Chinese patients with urothelial carcinoma.

Bmc Cancer

Yang, Bo B; Zhao, Xiao X; Wan, Chong C; Ma, Xin X; Niu, Shaoxi S; Guo, Aitao A; Wang, Jieli J; Wang, Jinliang J; Sun, Decong D; Jiao, Shunchang S

Publication Date: 2021-02-15

Variant appearance in text: KMT2D: 2039C>T; Thr680Met; rs202185563

PubMed Link: 33588785

Variant Present in the following documents:

• 12885_2021_7829_MOESM3_ESM.xlsx, sheet 2

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Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Oncotarget

Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P

Publication Date: 2020-04-07

Variant appearance in text: KMT2D: 2039C>T; Thr680Met

PubMed Link: 32292574

Variant Present in the following documents:

• oncotarget-11-1244-s005.xlsx, sheet 1

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: KMT2D: 2039C>T; Thr680Met; rs202185563

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page