@article {953,
	title = {Systems Analysis Implicates WAVE2~Complex in the Pathogenesis of~Developmental Left-Sided Obstructive~Heart Defects.},
	journal = {JACC Basic Transl Sci},
	volume = {5},
	year = {2020},
	month = {2020 Apr},
	pages = {376-386},
	abstract = {<p>Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited. To identify causal CHD genes that are associated with specific molecular functions, the study used prior knowledge to filter de novo variants from 2,881 probands with sporadic severe CHD. This approach enabled the authors to identify an association between left ventricular outflow tract obstruction lesions and genes associated with the WAVE2 complex and regulation of small GTPase-mediated signal transduction. Using CRISPR zebrafish knockdowns, the study confirmed that WAVE2 complex proteins , , and  and the regulators of small GTPase signaling  and  are critical to cardiac development.</p>},
	issn = {2452-302X},
	doi = {10.1016/j.jacbts.2020.01.012},
	author = {Edwards, Jonathan J and Rouillard, Andrew D and Fernandez, Nicolas F and Wang, Zichen and Lachmann, Alexander and Shankaran, Sunita S and Bisgrove, Brent W and Demarest, Bradley and Turan, Nahid and Srivastava, Deepak and Bernstein, Daniel and Deanfield, John and Giardini, Alessandro and Porter, George and Kim, Richard and Roberts, Amy E and Newburger, Jane W and Goldmuntz, Elizabeth and Brueckner, Martina and Lifton, Richard P and Seidman, Christine E and Chung, Wendy K and Tristani-Firouzi, Martin and Yost, H Joseph and Ma{\textquoteright}ayan, Avi and Gelb, Bruce D}
}
