1. Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. Issue 12 (23rd July 2022) Authors: Coursimault, Juliette; Cassinari, Kévin; Lecoquierre, François; Quenez, Olivier; Coutant, Sophie; Derambure, Céline; Vezain, Myriam; Drouot, Nathalie; Vera, Gabriella; Schaefer, Elise; Philippe, Anaïs; Doray, Bérénice; Lambert, Laëtitia; Ghoumid, Jamal; Smol, Thomas; Rama, Mélanie; Legendre, Mari... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1882 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. Issue 4 (2nd February 2017) Authors: Böhm, Johann; Bulla, Monica; Urquhart, Jill E.; Malfatti, Edoardo; Williams, Simon G.; O'Sullivan, James; Szlauer, Anastazja; Koch, Catherine; Baranello, Giovanni; Mora, Marina; Ripolone, Michela; Violano, Raffaella; Moggio, Maurizio; Kingston, Helen; Dawson, Timothy; DeGoede, Christian G.; Nixon... Journal: Human mutation Issue: Volume 38:Issue 4(2017) Page Start: 426 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders. Issue 6 (28th March 2019) Authors: Zeitz, Christina; Michiels, Christelle; Neuillé, Marion; Friedburg, Christoph; Condroyer, Christel; Boyard, Fiona; Antonio, Aline; Bouzidi, Nassima; Milicevic, Diana; Veaux, Robin; Tourville, Aurore; Zoumba, Axelle; Seneina, Imene; Foussard, Marine; Andrieu, Camille; N. Preising, Markus; Blanchar... Journal: Human mutation Issue: Volume 40:Issue 6(2019) Page Start: 765 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗