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: 12664C>G; Leu4222Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.

Genes, Chromosomes & Cancer

Juhlin, C Christofer CC; Stenman, Adam A; Haglund, Felix F; Clark, Victoria E VE; Brown, Taylor C TC; Baranoski, Jacob J; Bilguvar, Kaya K; Goh, Gerald G; Welander, Jenny J; Svahn, Fredrika F; Rubinstein, Jill C JC; Caramuta, Stefano S; Yasuno, Katsuhito K; Günel, Murat M; Bäckdahl, Martin M; Gimm, Oliver O; Söderkvist, Peter P; Prasad, Manju L ML; Korah, Reju R; Lifton, Richard P RP; Carling, Tobias T

Publication Date: 2015-09

Variant appearance in text: KMT2D: L4222V

PubMed Link: 26032282

Variant Present in the following documents:

• Main text
• GCC-54-542.pdf

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