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: 8639T>C; Leu2880Pro

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.

Orphanet Journal Of Rare Diseases

Shangguan, Huakun H; Su, Chang C; Ouyang, Qian Q; Cao, Bingyan B; Wang, Jian J; Gong, Chunxiu C; Chen, Ruimin R

Publication Date: 2019-11-14

Variant appearance in text: KMT2D: 8639T>C; L2880P

PubMed Link: 31727177

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1219.pdf

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Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

Bmc Medical Genetics

Liu, Shuang S; Hong, Xiafei X; Shen, Cheng C; Shi, Quan Q; Wang, Jian J; Xiong, Feng F; Qiu, Zhengqing Z

Publication Date: 2015-04-21

Variant appearance in text: KMT2D: 8639T>C; Leu2880Pro

PubMed Link: 25896430

Variant Present in the following documents:

• Main text
• 12881_2015_Article_171.pdf

View BVdb publication page