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: 2371C>G; Gln791Glu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Histopathological and Molecular Profiling of Clear Cell Sarcoma and Correlation with Response to Crizotinib: An Exploratory Study Related to EORTC 90101 "CREATE" Trial.

Cancers

Lee, Che-Jui CJ; Modave, Elodie E; Boeckx, Bram B; Stacchiotti, Silvia S; Rutkowski, Piotr P; Blay, Jean-Yves JY; Debiec-Rychter, Maria M; Sciot, Raf R; Lambrechts, Diether D; Wozniak, Agnieszka A; Schöffski, Patrick P

Publication Date: 2021-12-01

Variant appearance in text: KMT2D: Q791E

PubMed Link: 34885165

Variant Present in the following documents:

• Main text
• cancers-13-06057.pdf

View BVdb publication page

Histopathological and Molecular Profiling of Clear Cell Sarcoma and Correlation with Response to Crizotinib: An Exploratory Study Related to EORTC 90101 "CREATE" Trial.

Cancers

Lee, Che-Jui CJ; Modave, Elodie E; Boeckx, Bram B; Stacchiotti, Silvia S; Rutkowski, Piotr P; Blay, Jean-Yves JY; Debiec-Rychter, Maria M; Sciot, Raf R; Lambrechts, Diether D; Wozniak, Agnieszka A; Schöffski, Patrick P

Publication Date: 2021-12-01

Variant appearance in text: KMT2D: Q791E

PubMed Link: 34885165

Variant Present in the following documents:

• Main text
• cancers-13-06057.pdf

View BVdb publication page