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: 787C>T; Arg263Cys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.

The Journal Of Pathology. Clinical Research

Kemps, Paul G PG; Hebeda, Konnie M KM; Pals, Steven T ST; Verdijk, Robert M RM; Lam, King H KH; Bruggink, Annette H AH; de Lil, Heleen S HS; Ruiterkamp, Bart B; de Heer, Koen K; van Laar, Jan Am JA; Valk, Peter Jm PJ; Mutsaers, Pim P; Levin, Mark-David MD; Hogendoorn, Pancras Cw PC; van Halteren, Astrid Gs AG

Publication Date: 2021-01

Variant appearance in text: KMT2D: R263C

PubMed Link: 32852896

Variant Present in the following documents:

• CJP2-7-10-s001.pdf

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Intracranial myxoid mesenchymal tumors with EWSR1-CREB family gene fusions: myxoid variant of angiomatoid fibrous histiocytoma or novel entity?

Brain Pathology (Zurich, Switzerland)

Bale, Tejus A TA; Oviedo, Angelica A; Kozakewich, Harry H; Giannini, Caterina C; Davineni, Phani K PK; Ligon, Keith K; Alexandrescu, Sanda S

Publication Date: 2018-03

Variant appearance in text: KMT2D: 787C>T; R263C

PubMed Link: 28281318

Variant Present in the following documents:

• Main text

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