1. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. Issue 10 (11th July 2013) Authors: Wang, Xia; Wang, Hui; Sun, Vincent; Tuan, Han-Fang; Keser, Vafa; Wang, Keqing; Ren, Huanan; Lopez, Irma; Zaneveld, Jacques E; Siddiqui, Sorath; Bowles, Stephanie; Khan, Ayesha; Salvo, Jason; Jacobson, Samuel G; Iannaccone, Alessandro; Wang, Feng; Birch, David; Heckenlively, John R; Fishman, Geral... Journal: Journal of medical genetics Issue: Volume 50:Issue 10(2013) Page Start: 674 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation. Issue 5 (19th April 2007) Authors: Jacobson, Samuel G; Sumaroka, Alexander; Aleman, Tomas S; Cideciyan, Artur V; Danciger, Michael; Farber, Debora B Journal: British journal of ophthalmology Issue: Volume 91:Issue 5(2007) Page Start: 699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Improvement in vision: a new goal for treatment of hereditary retinal degenerations. (May 2015) Authors: Jacobson, Samuel G; Cideciyan, Artur V; Aguirre, Gustavo D; Roman, Alejandro J; Sumaroka, Alexander; Hauswirth, William W; Palczewski, Krzysztof Journal: Expert opinion on orphan drugs Issue: Volume 3:Number 5(2015:May) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP). (23rd December 2020) Authors: Moreno-Leon, Laura; West, Emma L; O'Hara-Wright, Michelle; Li, Linjing; Nair, Rohini; He, Jie; Anand, Manisha; Sahu, Bhubanananda; Chavali, Venkat Ramana Murthy; Smith, Alexander J; Ali, Robin R; Jacobson, Samuel G; Cideciyan, Artur V; Khanna, Hemant Journal: Human molecular genetics Issue: Volume 29:Number 22(2020) Page Start: 3706 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. (25th October 2016) Authors: Charng, Jason; Cideciyan, Artur V; Jacobson, Samuel G; Sumaroka, Alexander; Schwartz, Sharon B; Swider, Malgorzata; Roman, Alejandro J; Sheplock, Rebecca; Anand, Manisha; Peden, Marc C; Khanna, Hemant; Heon, Elise; Wright, Alan F; Swaroop, Anand Journal: Human molecular genetics Issue: Volume 25:Number 24(2016:Dec. 15) Page Start: 5444 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗