1. Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy. (June 2021) Authors: Calame, Daniel G.; Fatih, Jawid; Herman, Isabella; Akdemir, Zeynep Coban; Du, Haowei; Jhangiani, Shalini N.; Gibbs, Richard A.; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Lotze, Timothy; Mancias, Pedro; Bhattacharjee, Meenakshi Bidwai; Lupski, James R. Journal: Neurology Issue: Volume 7:Number 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Issue 19 (2nd March 2022) Authors: Chung, Hyung-Lok; Rump, Patrick; Lu, Di; Glassford, Megan R; Mok, Jung-Wan; Fatih, Jawid; Basal, Adily; Marcogliese, Paul C; Kanca, Oguz; Rapp, Michele; Fock, Johanna M; Kamsteeg, Erik-Jan; Lupski, James R; Larson, Austin; Haninbal, Mark C; Bellen, Hugo; Harel, Tamar Journal: Human molecular genetics Issue: Volume 31:Issue 19(2022) Page Start: 3231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗