1. An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease. (December 2018) Authors: Chen, Heidi; Jagadeesh, Karthik; Birgmeier, Johannes; Wenger, Aaron; Guturu, Harendra; Schelley, Susan; Bernstein, Jonathan; Bejerano, Gill Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1810 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing. Issue 7 (2nd April 2022) Authors: Mehinovic, Elvisa; Gray, Teddi; Campbell, Meghan; Ekholm, Jenny; Wenger, Aaron; Rowell, William; Grudo, Ari; Grimwood, Jane; Korlach, Jonas; Gurnett, Christina; Constantino, John N.; Turner, Tychele N. Journal: American journal of medical genetics Issue: Volume 188:Issue 7(2022) Page Start: 2071 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗