1. 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) ↗
2. Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing. Issue 3 (6th September 2021) Authors: Mor-Shaked, Hagar; Paz-Ebstein, Emuna; Basal, Adily; Ben-Haim, Simona; Grobe, Hanna; Heymann, Sami; Israel, Zvi; Namnah, Montaser; Nitzan, Anat; Rosenbluh, Chaggai; Saada, Ann; Tzur, Tomer; Yanovsky-Dagan, Shira; Zaidel-Bar, Ronen; Harel, Tamar; Arkadir, David Journal: Brain communications Issue: Volume 3:Issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗