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: 2123A>G; Tyr708Cys

PubMed Link: 35288444

Variant Present in the following documents:

• heartjnl-2021-320428supp001.pdf

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Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

Human Mutation

Overwater, Eline E; Marsili, Luisa L; Baars, Marieke J H MJH; Baas, Annette F AF; van de Beek, Irma I; Dulfer, Eelco E; van Hagen, Johanna M JM; Hilhorst-Hofstee, Yvonne Y; Kempers, Marlies M; Krapels, Ingrid P IP; Menke, Leonie A LA; Verhagen, Judith M A JMA; Yeung, Kak K KK; Zwijnenburg, Petra J G PJG; Groenink, Maarten M; van Rijn, Peter P; Weiss, Marjan M MM; Voorhoeve, Els E; van Tintelen, J Peter JP; Houweling, Arjan C AC; Maugeri, Alessandra A

Publication Date: 2018-09

Variant appearance in text: NOTCH1: 2123A>G; Tyr708Cys

PubMed Link: 29907982

Variant Present in the following documents:

• Main text
• HUMU-39-1173.pdf

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