1. A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response. Issue 2 (15th October 2021) Authors: Strong, Alanna; March, Michael E.; Cardinale, Christopher J.; Kim, Sophia E.; Merves, Jamie; Whitworth, Hilary; Raffini, Leslie; Larosa, Christopher; Copelovitch, Lawrence; Hou, Cuiping; Slater, Diana; Vaccaro, Courtney; Watson, Deborah; Zackai, Elaine H.; Billheimer, Jeffrey; Hakonarson, Hakon Journal: American journal of medical genetics Issue: Volume 188:Issue 2(2022) Page Start: 463 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗