1. A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia. (3rd July 2020) Authors: Jones, Kaylie D.; Radziwon, Alina; Birch, David G.; MacDonald, Ian M. Journal: Ophthalmic genetics Issue: Volume 41:Number 4(2020) Page Start: 341 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia. (3rd July 2020) Authors: Jones, Kaylie D.; Radziwon, Alina; Birch, David G.; MacDonald, Ian M. Journal: Ophthalmic genetics Issue: Volume 41:Number 4(2020) Page Start: 341 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation. (June 2018) Authors: Täger, Joachim; Kohl, Susanne; Birch, David G.; Wheaton, Dianna K.H.; Wissinger, Bernd; Reuter, Peggy Journal: Experimental eye research Issue: Volume 171(2018) Page Start: 48 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CHOROIDEREMIA: Retinal Degeneration With an Unmet Need. Issue 11 (November 2019) Authors: Pennesi, Mark E.; Birch, David G.; Duncan, Jacque L.; Bennett, Jean; Girach, Aniz Journal: Retina Issue: Volume 39:Issue 11(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CLINICAL ENDPOINTS FOR THE STUDY OF GEOGRAPHIC ATROPHY SECONDARY TO AGE-RELATED MACULAR DEGENERATION. Issue 10 (October 2016) Authors: Sadda, SriniVas R.; Chakravarthy, Usha; Birch, David G.; Staurenghi, Giovanni; Henry, Erin C.; Brittain, Christopher Journal: Retina Issue: Volume 36:Issue 10(2016:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis. (4th July 2018) Authors: Abalem, Maria Fernanda; Musch, David C.; Birch, David G.; Pennesi, Mark E.; Heckenlively, John R.; Jayasundera, Thiran Journal: Ophthalmic genetics Issue: Volume 39:Number 4(2018) Page Start: 437 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Endpoints for Measuring Efficacy in Clinical Trials for Inherited Retinal Disease. Issue 4 (28th September 2021) Authors: Chung, Daniel C.; Birch, David G.; MacLaren, Robert E. Journal: International ophthalmology clinics Issue: Volume 61:Issue 4(2021) Page Start: 63 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. EVALUATION OF FULL-FIELD ELECTRORETINOGRAM REDUCTIONS AFTER OCRIPLASMIN TREATMENT: Results of the OASIS Trial ERG Substudy. Issue 2 (February 2018) Authors: Birch, David G.; Benz, Matthew S.; Miller, Daniel M.; Antoszyk, Andrew N.; Markoff, Joseph; Kozma, Petra; Meunier, Esmeralda; Sergott, Robert C. Journal: Retina Issue: Volume 38:Issue 2(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. PHASE II, RANDOMIZED, PLACEBO-CONTROLLED, 90-DAY STUDY OF EMIXUSTAT HYDROCHLORIDE IN GEOGRAPHIC ATROPHY ASSOCIATED WITH DRY AGE-RELATED MACULAR DEGENERATION. Issue 6 (June 2015) Authors: Dugel, Pravin U.; Novack, Roger L.; Csaky, Karl G.; Richmond, Preston P.; Birch, David G.; Kubota, Ryo Journal: Retina Issue: Volume 35:Issue 6(2015:Jun.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗