1. Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy. (1st November 2020) Authors: Ahuja, Abhimanyu S.; Selvam, Pavalan; Vadlamudi, Charitha; Chopra, Hayley; Richter, John E.; Macklin, Sarah K.; Samreen, Ayesha; Helmi, Haytham; Mohammaad, Ahmed N.; Hines, Stephanie; Davila, Maria C.; Atwal, Paldeep S.; Caulfield, Thomas R. Journal: Ophthalmic genetics Issue: Volume 41:Number 6(2020) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗