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: 13924G>A; Val4642Ile

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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High-risk multiple myeloma predicted by circulating plasma cells and its genetic characteristics.

Frontiers In Oncology

Xia, Yuan Y; Shen, Na N; Zhang, Run R; Wu, Yujie Y; Shi, Qinglin Q; Li, Jianyong J; Chen, Lijuan L; Xu, Min M; Jin, Yuanyuan Y

Publication Date: 2023

Variant appearance in text: rs200638996

PubMed Link: 36845679

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer.

Cancer Causes & Control : Ccc

Hercules, Shawn M SM; Liu, Xiyu X; Bassey-Archibong, Blessing B I BBI; Skeete, Desiree H A DHA; Smith Connell, Suzanne S; Daramola, Adetola A; Banjo, Adekunbiola A AA; Ebughe, Godwin G; Agan, Thomas T; Ekanem, Ima-Obong IO; Udosen, Joe J; Obiorah, Christopher C; Ojule, Aaron C AC; Misauno, Michael A MA; Dauda, Ayuba M AM; Egbujo, Ejike C EC; Hercules, Jevon C JC; Ansari, Amna A; Brain, Ian I; MacColl, Christine C; Xu, Yili Y; Jin, Yuxin Y; Chang, Sharon S; Carpten, John D JD; Bédard, André A; Pond, Greg R GR; Blenman, Kim R M KRM; Manojlovic, Zarko Z; Daniel, Juliet M JM

Publication Date: 2022-06

Variant appearance in text: KMT2D: 13924G>A; Val4642Ile; rs200638996

PubMed Link: 35384527

Variant Present in the following documents:

• 10552_2022_1574_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page