1. A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome. Issue 2 (14th November 2020) Authors: Delvallée, Clarisse; Nicaise, Samuel; Antin, Manuela; Leuvrey, Anne‐Sophie; Nourisson, Elsa; Leitch, Carmen C.; Kellaris, Georgios; Stoetzel, Corinne; Geoffroy, Véronique; Scheidecker, Sophie; Keren, Boris; Depienne, Christel; Klar, Joakim; Dahl, Niklas; Deleuze, Jean‐François; Génin, Emmanuelle;... Journal: Clinical genetics Issue: Volume 99:Issue 2(2021) Page Start: 318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models. (June 2021) Authors: Yusuff, Tanzeen; Kellaris, Georgios; Girirajan, Santhosh; Katsanis, Nicholas Journal: Current opinion in genetics & development Issue: Volume 68(2021) Page Start: 79 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗