1. A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration. Issue 1 (January 2016) Authors: Lorés-Motta, Laura; van Asten, Freekje; Muether, Philipp S.; Smailhodzic, Dzenita; Groenewoud, Joannes M.; Omar, Amer; Chen, John; Koenekoop, Robert K.; Fauser, Sascha; Hoyng, Carel B.; den Hollander, Anneke I.; de Jong, Eiko K. Journal: Pharmaocogenetics and genomics Issue: Volume 26:Issue 1(2016:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review. Issue 5 (May 2021) Authors: Leroy, Bart P.; Birch, David G.; Duncan, Jacque L.; Lam, Byron L.; Koenekoop, Robert K.; Porto, Fernanda B. O.; Russell, Stephen R.; Girach, Aniz Journal: Retina Issue: Volume 41:Issue 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. (2nd January 2017) Authors: Coussa, Razek Georges; Lopez Solache, Irma; Koenekoop, Robert K. Journal: Ophthalmic genetics Issue: Volume 38:Number 1(2017) Page Start: 7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Maternally inherited MAF variant associated with variable expression of Aymé‐Gripp syndrome. Issue 11 (7th August 2019) Authors: Alkhunaizi, Ebba; Koenekoop, Robert K.; Saint‐Martin, Christine; Russell, Laura Journal: American journal of medical genetics Issue: Volume 179:Issue 11(2019) Page Start: 2233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel insights into the molecular pathogenesis of CYP4V2‐associated Bietti's retinal dystrophy. Issue 1 (15th September 2014) Authors: Astuti, Galuh D. N.; Sun, Vincent; Bauwens, Miriam; Zobor, Ditta; Leroy, Bart P.; Omar, Amer; Jurklies, Bernhard; Lopez, Irma; Ren, Huanan; Yazar, Volkan; Hamel, Christian; Kellner, Ulrich; Wissinger, Bernd; Kohl, Susanne; De Baere, Elfride; Collin, Rob W. J.; Koenekoop, Robert K. Journal: Molecular genetics & genomic medicine Issue: Volume 3:Issue 1(2015:Jan.) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Probing mechanisms and improving management of glaucoma following Boston keratoprosthesis surgery. (8th December 2022) Authors: Geoffrion, Dominique; Koenekoop, Robert K.; Harissi‐Dagher, Mona Journal: Acta ophthalmologica Issue: Volume 100(2022)Supplement S274 Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Probing mechanisms and improving management of glaucoma following Boston keratoprosthesis surgery. Issue 2 (16th February 2023) Authors: Geoffrion, Dominique; Koenekoop, Robert K.; Harissi‐Dagher, Mona Journal: Acta ophthalmologica Issue: Volume 101:Issue 2(2023) Page Start: 242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Retinal Disorders and Sleep Disorders: Are They Genetically Related?. (September 2015) Authors: Murphy, Caitlin; Duponsel, Nathalie; Huang, Xi Sheila; Wittich, Walter; Koenekoop, Robert K.; Overbury, Olga Journal: Journal of visual impairment & blindness Issue: Volume 109:Number 5(2015) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations. Issue 1 (30th October 2013) Authors: Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, [Sten; de, Elfride; Benn... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations. Issue 11 (17th September 2013) Authors: Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, Sten; de, Elfride; Benne... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗