11. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. (2nd November 2021) Authors: Igelman, Austin D.; Ku, Cristy; da Palma, Mariana Matioli; Georgiou, Michalis; Schiff, Elena R.; Lam, Byron L.; Sankila, Eeva-Marja; Ahn, Jeeyun; Pyers, Lindsey; Vincent, Ajoy; Ferraz Sallum, Juliana Maria; Zein, Wadih M.; Oh, Jin Kyun; Maldonado, Ramiro S.; Ryu, Joseph; Tsang, Stephen H.; Gorin,... Journal: Ophthalmic genetics Issue: Volume 42:Number 6(2021) Page Start: 664 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY. Issue 7 (July 2017) Authors: Khan, Kamron N.; Mahroo, Omar A.; Islam, Farrah; Webster, Andrew R.; Moore, Anthony T.; Michaelides, Michel Journal: Retina Issue: Volume 37:Issue 7(2017:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities. (2nd November 2017) Authors: Cipriani, Valentina; Kalhoro, Ambreen; Arno, Gavin; Silva, Raquel S.; Pontikos, Nikolas; Puech, Virginie; McClements, Michelle E.; Hunt, David M.; van Heyningen, Veronica; Michaelides, Michel; Webster, Andrew R.; Moore, Anthony T.; Puech, Bernard Journal: Ophthalmic genetics Issue: Volume 38:Number 6(2017) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy. (4th July 2018) Authors: Alfano, Giovanna; Waseem, Naushin H.; Webster, Andrew R.; Bhattacharya, Shomi S. Journal: Ophthalmic genetics Issue: Volume 39:Number 4(2018) Page Start: 539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Macula-predominant retinopathy associated with biallelic variants in RDH12. (1st November 2020) Authors: Ba-Abbad, Rola; Arno, Gavin; Robson, Anthony G.; Bouras, Konstantinos; Georgiou, Michalis; Wright, Genevieve; Webster, Andrew R.; Michaelides, Michel Journal: Ophthalmic genetics Issue: Volume 41:Number 6(2020) Page Start: 612 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Macula-predominant retinopathy associated with biallelic variants in RDH12. (1st November 2020) Authors: Ba-Abbad, Rola; Arno, Gavin; Robson, Anthony G.; Bouras, Konstantinos; Georgiou, Michalis; Wright, Genevieve; Webster, Andrew R.; Michaelides, Michel Journal: Ophthalmic genetics Issue: Volume 41:Number 6(2020) Page Start: 612 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Mechanism and evidence of nonsense suppression therapy for genetic eye disorders. (February 2017) Authors: Richardson, Rose; Smart, Matthew; Tracey-White, Dhani; Webster, Andrew R.; Moosajee, Mariya Journal: Experimental eye research Issue: Volume 155(2017) Page Start: 24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish. (December 2019) Authors: Toms, Maria; Dubis, Adam M.; Lim, Wei Sing; Webster, Andrew R.; Gorin, Michael B.; Moosajee, Mariya Journal: Experimental eye research Issue: Volume 189(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Missense variants in the X‐linked gene PRPS1 cause retinal degeneration in females. Issue 1 (17th October 2017) Authors: Fiorentino, Alessia; Fujinami, Kaoru; Arno, Gavin; Robson, Anthony G.; Pontikos, Nikolas; Arasanz Armengol, Monica; Plagnol, Vincent; Hayashi, Takaaki; Iwata, Takeshi; Parker, Matthew; Fowler, Tom; Rendon, Augusto; Gardner, Jessica C.; Henderson, Robert H.; Cheetham, Michael E.; Webster, Andrew R... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. New variants and in silico analyses in GRK1 associated Oguchi disease. Issue 2 (30th November 2020) Authors: Poulter, James A.; Gravett, Molly S. C.; Taylor, Rachel L.; Fujinami, Kaoru; De Zaeytijd, Julie; Bellingham, James; Rehman, Atta Ur; Hayashi, Takaaki; Kondo, Mineo; Rehman, Abdur; Ansar, Muhammad; Donnelly, Dan; Toomes, Carmel; Ali, Manir; De Baere, Elfride; Leroy, Bart P.; Davies, Nigel P.; Hend... Journal: Human mutation Issue: Volume 42:Issue 2(2021) Page Start: 164 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗