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: 9259C>T; Arg3087Trp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Blood Advances

Frauenfeld, Leonie L; Castrejon-de-Anta, Natalia N; Ramis-Zaldivar, Joan Enric JE; Streich, Sebastian S; Salmerón-Villalobos, Julia J; Otto, Franziska F; Mayer, Annika Katharina AK; Steinhilber, Julia J; Pinyol, Magda M; Mankel, Barbara B; Ramsower, Colleen C; Bonzheim, Irina I; Fend, Falko F; Rimsza, Lisa M LM; Salaverria, Itziar I; Campo, Elias E; Balagué, Olga O; Quintanilla-Martinez, Leticia L

Publication Date: 2022-04-12

Variant appearance in text: KMT2D: R3087W

PubMed Link: 34654055

Variant Present in the following documents:

• advancesADV2021006034-suppl1.pdf

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: KMT2D: Arg3087Trp

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page