Publications:

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Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: NOTCH1: 3853G>A; rs756972680

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Wilms tumor mutational subclasses converge to drive CCND2 overexpression.

Medrxiv : The Preprint Server For Health Sciences

Xu, Lin L; Desai, Kavita K; Kim, Jiwoong J; Zhou, Qinbo Q; Guo, Lei L; Xiao, Xue X; Zhang, Yanfeng Y; Zhou, Li L; Yuksel, Aysen A; Catchpoole, Daniel R DR; Amatruda, James F JF; Chen, Kenneth S KS

Publication Date: 2023-02-02

Variant appearance in text: NOTCH1: 3853G>A; Val1285Met

PubMed Link: 36778325

Variant Present in the following documents:

• media-4.xlsx, sheet 1

View BVdb publication page

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Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology.

Frontiers In Oncology

Valentini, Virginia V; Silvestri, Valentina V; Bucalo, Agostino A; Conti, Giulia G; Karimi, Mina M; Di Francesco, Linda L; Pomati, Giulia G; Mezi, Silvia S; Cerbelli, Bruna B; Pignataro, Maria Gemma MG; Nicolussi, Arianna A; Coppa, Anna A; D'Amati, Giulia G; Giannini, Giuseppe G; Ottini, Laura L

Publication Date: 2022

Variant appearance in text: NOTCH1: 3853G>A; Val1285Met

PubMed Link: 36686738

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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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: 3853G>A; Val1285Met; rs756972680

PubMed Link: 35288444

Variant Present in the following documents:

• heartjnl-2021-320428supp001.pdf

View BVdb publication page

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Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology

Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A

Publication Date: 2022-02

Variant appearance in text: NOTCH1: 3853G>A; V1285M; rs756972680

PubMed Link: 34494161

Variant Present in the following documents:

• 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
• 428_2021_3186_MOESM21_ESM.xlsx, sheet 1

View BVdb publication page

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Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.

Genetic Epidemiology

Helle, Emmi E; Córdova-Palomera, Aldo A; Ojala, Tiina T; Saha, Priyanka P; Potiny, Praneetha P; Gustafsson, Stefan S; Ingelsson, Erik E; Bamshad, Michael M; Nickerson, Deborah D; Chong, Jessica X JX; , ; Ashley, Euan E; Priest, James R JR

Publication Date: 2019-03

Variant appearance in text: NOTCH1: 3853G>A; Val1285Met; rs756972680

PubMed Link: 30511478

Variant Present in the following documents:

• Main text

View BVdb publication page

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The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

Oncotarget

Athanasakis, Emmanouil E; Melloni, Elisabetta E; Rigolin, Gian Matteo GM; Agnoletto, Chiara C; Voltan, Rebecca R; Vozzi, Diego D; Piscianz, Elisa E; Segat, Ludovica L; Dal Monego, Simeone S; Cuneo, Antonio A; Secchiero, Paola P; Zauli, Giorgio G

Publication Date: 2014-12-30

Variant appearance in text: NOTCH1: V1285M

PubMed Link: 25587027

Variant Present in the following documents:

• Main text
• oncotarget-05-12635.pdf
• oncotarget-05-12635-s001.pdf

View BVdb publication page

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