1. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. (4th February 2020) Authors: Beck, Tyler F; Veenma, Danielle; Shchelochkov, Oleg A; Yu, Zhiyin; Kim, Bum Jun; Zaveri, Hitisha P; van Bever, Yolande; Choi, Sunju; Douben, Hannie; Bertin, Terry K; Patel, Pragna I; Lee, Brendan; Tibboel, Dick; de Klein, Annelies; Stockton, David W; Justice, Monica J; Scott, Daryl A Journal: Human molecular genetics Issue: Volume 29:Number 6(2020) Page Start: 1054 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. RERE deficiency contributes to the development of orofacial clefts in humans and mice. Issue 7 (26th March 2021) Authors: Kim, Bum Jun; Zaveri, Hitisha P; Kundert, Peter N; Jordan, Valerie K; Scott, Tiana M; Carmichael, Jenny; Scott, Daryl A Journal: Human molecular genetics Issue: Volume 30:Issue 7(2021) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗