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Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas

Study to identify the genetic contributions to OA/TOF (EA/TEF) performing whole genome sequencing of 185 trios (probands and parents) with OA/TOF (EA/TEF), including 59 isolated and 126 complex cases with additional congenital anomalies and/or neurodevelopmental disorders. 

Results implicate disruption of endosome-mediated epithelial remodeling as a potential mechanism of foregut developmental defects. 

Guojie Zhong, Priyanka Ahimaz, Nicole A. Edwards, Jacob J. Hagen, Christophe Faure, Qiao Lu, Paul Kingma, William Middlesworth, Julie Khlevner, Mahmoud El Fiky, David Schindel, Elizabeth Fialkowski, Adhish Kashyap, Sophia Forlenza, Alan P. Kenny, Aaron M. Zorn, Yufeng Shen, and Wendy K. Chung.