1. Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. Issue 21 (11th February 2022) Authors: Lee, Richard G; Balasubramaniam, Shanti; Stentenbach, Maike; Kralj, Tom; McCubbin, Tim; Padman, Benjamin; Smith, Janine; Riley, Lisa G; Priyadarshi, Archana; Peng, Liuyu; Nuske, Madison R; Webster, Richard; Peacock, Ken; Roberts, Philip; Stark, Zornitza; Lemire, Gabrielle; Ito, Yoko A; Boycott, K... Journal: Human molecular genetics Issue: Volume 31:Issue 21(2022) Page Start: 3597 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genomics and anterior segment dysgenesis: a review. (29th July 2013) Authors: Ito, Yoko A; Walter, Michael A Journal: Clinical & experimental ophthalmology Issue: Volume 42:Number 1(2014) Page Start: 13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗