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: 11120G>A; Arg3707Gln

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: KMT2D: R3707Q

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

Whole-genome sequencing identifies responders to Pembrolizumab in relapse/refractory natural-killer/T cell lymphoma.

Leukemia

Lim, Jing Quan JQ; Huang, Dachuan D; Tang, Tiffany T; Tan, Daryl D; Laurensia, Yurike Y; Peng, Rou-Jun RJ; Wong, Esther Kam Yin EKY; Cheah, Daryl Ming Zhe DMZ; Chia, Burton Kuan Hui BKH; Iqbal, Jabed J; Grigoropoulos, Nicholas Francis NF; Nairismägi, Maarja-Liisa ML; Ng, Cedric Chuan Young CCY; Rajasegaran, Vikneswari V; Hong, Huangming H; Kim, Seok Jin SJ; Cho, Junhun J; Tse, Eric E; Mow, Benjamin B; Cai, Qi-Chun QC; Poon, Li-Mei LM; Cai, Qing-Qing QQ; Tan, Jing J; Chan, Jason Yongsheng JY; Lim, Johnathan Xiande JX; Goh, Yeow Tee YT; Phipps, Colin C; Rötzschke, Olaf O; Cheng, Chee Leong CL; Ha, Jeslin Chian Hung JCH; Khoo, Lay Poh LP; Loh, Yvonne Su Ming YSM; Au-Yeung, Rex R; Chan, Thomas Sau-Yan TS; Kwong, Yok-Lam YL; Hwang, William W; Kim, Won Seog WS; Bei, Jin-Xin JX; Lin, Tongyu T; Ong, Choon Kiat CK; Lim, Soon Thye ST

Publication Date: 2020-12

Variant appearance in text: KMT2D: R3707Q

PubMed Link: 32753688

Variant Present in the following documents:

• 41375_2020_1000_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: KMT2D: 11120G>A; R3707Q

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review.

Medicine

Li, Niu N; Xu, Yufei Y; Li, Guoqiang G; Yu, Tingting T; Yao, Ru-En RE; Wang, Xiumin X; Wang, Jian J

Publication Date: 2017-05

Variant appearance in text: KMT2D: Arg3707Gln

PubMed Link: 28514307

Variant Present in the following documents:

• Main text
• medi-96-e6914.pdf

View BVdb publication page