1. Functional classification of ATM variants in ataxia‐telangiectasia patients. Issue 10 (17th May 2019) Authors: Fiévet, Alice; Bellanger, Dorine; Rieunier, Guillaume; Dubois d'Enghien, Catherine; Sophie, Julia; Calvas, Patrick; Carriere, Jean‐Paul; Anheim, Mathieu; Castrioto, Anna; Flabeau, Olivier; Degos, Bertrand; Ewenczyk, Claire; Mahlaoui, Nizar; Touzot, Fabien; Suarez, Felipe; Hully, Marie; Roubertie,... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. Issue 12 (2nd September 2016) Authors: Marelli, Cecilia; Guissart, Claire; Hubsch, Cecile; Renaud, Mathilde; Villemin, Jean‐Philippe; Larrieu, Lise; Charles, Perrine; Ayrignac, Xavier; Sacconi, Sabrina; Collignon, Patrick; Cuntz‐Shadfar, Danielle; Perrin, Laurine; Benarrosh, Anelia; Degardin, Adrian; Lagha‐Boukbiza, Ouhaïd; Mutez, Eug... Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1340 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗