1. Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder. Issue 10 (23rd June 2019) Authors: Thompson, Rachel; Papakonstantinou Ntalis, Anastasios; Beltran, Sergi; Töpf, Ana; de Paula Estephan, Eduardo; Polavarapu, Kiran; 't Hoen, Peter A. C.; Missier, Paolo; Lochmüller, Hanns Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗