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Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families

Wilhelmina S. Kerstjens‐Frederikse, Ingrid M.B.H. van de Laar, Yvonne J. Vos, Judith M.A. Verhagen, Rolf M.F. Berger, Klaske D. Lichtenbelt, Jolien S. Klein Wassink‐Ruiter, Paul A. van der Zwaag, Gideon J. du Marchie Sarvaas, Klasien A. Bergman,

Genetics in Medicine · 2016 · 142 citations · 34 references

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34

Mutations in NOTCH1 cause aortic valve disease

Vidu Garg, Alecia N. Muth, J. Ransom et al. · Nature · 2005 · 1.5K citations

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Notch promotes epithelial-mesenchymal transition during cardiac development and oncogenic transformation

Luika Timmerman, Joaquím Grego‐Bessa, Ángel Raya et al. · Genes & Development · 2003 · 982 citations · Full text

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Incidence of Aortic Complications in Patients With Bicuspid Aortic Valves

Héctor I. Michelena, Amber Khanna, Douglas W. Mahoney et al. · JAMA · 2011 · 822 citations

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Bicuspid aortic valve is heritable

Linda Cripe, Grégor Andelfinger, Lisa J. Martin et al. · Journal of the American College of Cardiology · 2004 · 627 citations

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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

Steven C. Greenway, Alexandre C. Pereira, Jennifer Lin et al. · Nature Genetics · 2009 · 405 citations · Full text

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