Publications

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Author Title [ Year(Desc)]
Filters: Author is Roberts, Amy E  [Clear All Filters]
2013
Zaidi, S. et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498, 220-3 (2013).
2015
Cordeddu, V. et al. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat 36, 1080-7 (2015).
2017
Jin, S. Chih et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 49, 1593-1601 (2017).
2018
Hoang, T. T. et al. The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One 13, e0191319 (2018).
2020
Boskovski, M. T. et al. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circ Genom Precis Med 13, e002836 (2020).
Edwards, J. J. et al. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. JACC Basic Transl Sci 5, 376-386 (2020).