1. Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. Issue 10 (17th August 2018) Authors: de Bruijn, Suzanne E; Verbakel, Sanne K; de Vrieze, Erik; Kremer, Hannie; Cremers, Frans P M; Hoyng, Carel B; van den Born, L Ingeborgh; Roosing, Susanne Journal: Journal of medical genetics Issue: Volume 55:Issue 10(2018) Page Start: 705 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. Issue 8 (17th August 2020) Authors: Olivier, Guillaume; Corton, Marta; Intartaglia, Daniela; Verbakel, Sanne K; Sergouniotis, Panagiotis I; Le Meur, Guylène; Dhaenens, Claire-Marie; Naacke, Hélène; Avila-Fernández, Almudena; Hoyng, Carel B; Klevering, Jeroen; Bocquet, Béatrice; Roubertie, Agathe; Sénéchal, Audrey; Banfi, Sandro; Mu... Journal: Journal of medical genetics Issue: Volume 58:Issue 8(2021) Page Start: 570 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗