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: 7400A>C; His2467Pro

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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H3K27m3 overexpression as a new, BCL2 independent diagnostic tool in follicular and cutaneous follicle center lymphomas.

Virchows Archiv : An International Journal Of Pathology

Brune, Magdalena M MM; Vela, Visar V; Bratic Hench, Ivana I; Dertinger, Susanne S; Borgmann, Vanessa V; Dirnhofer, Stefan S; Tzankov, Alexandar A

Publication Date: 2022-09

Variant appearance in text: KMT2D: H2467P

PubMed Link: 35661922

Variant Present in the following documents:

• Main text
• 428_2022_Article_3347.pdf

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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: H2467P

PubMed Link: 34654055

Variant Present in the following documents:

• advancesADV2021006034-suppl1.pdf

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