1. Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. (September 2018) Authors: Wambach, Jennifer; Wegner, Daniel; Yang, Ping; Shinawi, Marwan; Baldridge, Dustin; Betleja, Ewelina; Shimony, Joshua; Spencer, David; Hackett, Brian; Andrews, Marisa; Ferkol, Thomas; Dutcher, Susan; Mahjoub, Moe; Cole, F. Journal: Pediatric research Issue: Volume 84:Number 3(2018) Page Start: 435 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC. (September 2018) Authors: Attarian, Stephanie; Leibel, Sandra; Yang, Ping; Alfano, Danielle; Hackett, Brian; Cole, F; Hamvas, Aaron Journal: Pediatric research Issue: Volume 84:Number 3(2018) Page Start: 419 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗