Publications:

Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: NOTCH1: 2439C>A; Tyr813*

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 3

View BVdb publication page

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

Plos Genetics

Preuss, Christoph C; Capredon, Melanie M; Wünnemann, Florian F; Chetaille, Philippe P; Prince, Andrea A; Godard, Beatrice B; Leclerc, Severine S; Sobreira, Nara N; Ling, Hua H; Awadalla, Philip P; Thibeault, Maryse M; Khairy, Paul P; , ; Samuels, Mark E ME; Andelfinger, Gregor G

Publication Date: 2016-10

Variant appearance in text: NOTCH1: Y813*

PubMed Link: 27760138

Variant Present in the following documents:

• Main text
• pgen.1006335.pdf
• pgen.1006335.s013.xls, sheet 1
• pgen.1006335.s011.xls, sheet 1

View BVdb publication page