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. Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes. Issue 3 (18th February 2019) Authors: Mary, Laura; Chennen, Kirsley; Stoetzel, Corinne; Antin, Manuela; Leuvrey, Anne; Nourisson, Elsa; Alanio‐Detton, Elisabeth; Antal, Maria C.; Attié‐Bitach, Tania; Bouvagnet, Patrice; Bouvier, Raymonde; Buenerd, Annie; Clémenson, Alix; Devisme, Louise; Gasser, Bernard; Gilbert‐Dussardier, Brigitte;... Journal: Clinical genetics Issue: Volume 95:Issue 3(2019) Page Start: 384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy. Issue 6 (23rd March 2021) Authors: Mary, Laura; Nourisson, Elsa; Feger, Claire; Laugel, Vincent; Chaigne, Denys; Keren, Boris; Afenjar, Alexandra; Billette, Thierry; Trost, Detlef; Cieuta‐Walti, Cécile; Gerard, Bénédicte; Piton, Amélie; Schaefer, Elise Journal: American journal of medical genetics Issue: Volume 185:Issue 6(2021) Page Start: 1803 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗