1. Experience of targeted Usher exome sequencing as a clinical test. Issue 1 (10th July 2013) Authors: Besnard, Thomas; García‐García, Gema; Baux, David; Vaché, Christel; Faugère, Valérie; Larrieu, Lise; Léonard, Susana; Millan, Jose M.; Malcolm, Sue; Claustres, Mireille; Roux, Anne‐Françoise Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 1(2014:Jan.) Page Start: 30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Screening for single nucleotide variants, small indels and exon deletions with a next‐generation sequencing based gene panel approach for Usher syndrome. Issue 5 (15th June 2014) Authors: Krawitz, Peter M.; Schiska, Daniela; Krüger, Ulrike; Appelt, Sandra; Heinrich, Verena; Parkhomchuk, Dmitri; Timmermann, Bernd; Millan, Jose M.; Robinson, Peter N.; Mundlos, Stefan; Hecht, Jochen; Gross, Manfred Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 5(2014:Sep.) Page Start: 393 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗