Publications:

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Heart (British Cardiac Society)

Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP

Publication Date: 2022-06-24

Variant appearance in text: NOTCH1: 3860G>A; Arg1287His; rs763679772

PubMed Link: 35288444

Variant Present in the following documents:

• heartjnl-2021-320428supp001.pdf

View BVdb publication page

Tumor evolutionary trajectories during the acquisition of invasiveness in early stage lung adenocarcinoma.

Nature Communications

Wang, Siwei S; Du, Mulong M; Zhang, Jingyuan J; Xu, Weizhang W; Yuan, Qianyu Q; Li, Ming M; Wang, Jie J; Zhu, Hongyu H; Wang, Yuzhuo Y; Wang, Cheng C; Gong, Yuhua Y; Wang, Xiaonan X; Hu, Zhibin Z; Christiani, David C DC; Xu, Lin L; Shen, Hongbing H; Yin, Rong R

Publication Date: 2020-11-27

Variant appearance in text: NOTCH1: 3860G>A; R1287H; rs763679772

PubMed Link: 33247113

Variant Present in the following documents:

• 41467_2020_19855_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.

Human Genetics

Butz, Henriett H; Nyírő, Gábor G; Kurucz, Petra Anna PA; Likó, István I; Patócs, Attila A

Publication Date: 2021-01

Variant appearance in text: NOTCH1: 3860G>A; Arg1287His

PubMed Link: 32222824

Variant Present in the following documents:

• Main text
• 439_2020_Article_2148.pdf

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: R1287H

PubMed Link: 27760138

Variant Present in the following documents:

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

View BVdb publication page