Publications:

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One

Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R

Publication Date: 2021

Variant appearance in text: MLL3: E3872K

PubMed Link: 33556149

Variant Present in the following documents:

• pone.0246048.s008.xlsx, sheet 1

View BVdb publication page

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics

Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM

Publication Date: 2020-07-18

Variant appearance in text: rs201674711

PubMed Link: 32682410

Variant Present in the following documents:

• 12881_2020_1087_MOESM1_ESM.xlsx, sheet 3

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The dynamic conformational landscape of the protein methyltransferase SETD8.

Elife

Chen, Shi S; Wiewiora, Rafal P RP; Meng, Fanwang F; Babault, Nicolas N; Ma, Anqi A; Yu, Wenyu W; Qian, Kun K; Hu, Hao H; Zou, Hua H; Wang, Junyi J; Fan, Shijie S; Blum, Gil G; Pittella-Silva, Fabio F; Beauchamp, Kyle A KA; Tempel, Wolfram W; Jiang, Hualiang H; Chen, Kaixian K; Skene, Robert J RJ; Zheng, Yujun George YG; Brown, Peter J PJ; Jin, Jian J; Luo, Cheng C; Chodera, John D JD; Luo, Minkui M

Publication Date: 2019-05-13

Variant appearance in text: MLL3: E3872K

PubMed Link: 31081496

Variant Present in the following documents:

• elife-45403-supp1.xlsx, sheet 15

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: MLL3: E3872K; rs201674711

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page