1. A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. Issue 3 (7th August 2020) Authors: Schiff, Elena R.; Daich Varela, Malena; Robson, Anthony G.; Pierpoint, Karen; Ba‐Abbad, Rola; Nutan, Savita; Zein, Wadih M.; Ullah, Ehsan; Huryn, Laryssa A.; Tuupanen, Sari; Mahroo, Omar A.; Michaelides, Michel; Burke, Derek; Harvey, Katie; Arno, Gavin; Hufnagel, Robert B.; Webster, Andrew R. Other Names: Hufnagel Robert guestEditor.; Walter Michael guestEditor.; Arno Gavin guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 3(2020) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome. (2nd January 2022) Authors: Daich Varela, Malena; Motta, Fabiana Louise; Webster, Andrew R.; Arno, Gavin Journal: Ophthalmic genetics Issue: Volume 43:Number 1(2022) Page Start: 110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot. Issue 6 (4th August 2020) Authors: Daich Varela, Malena; Zein, Wadih M; Toro, Camilo; Groden, Catherine; Johnston, Jean; Huryn, Laryssa A; d'Azzo, Alessandra; Tifft, Cynthia J; FitzGibbon, Edmond J Journal: British journal of ophthalmology Issue: Volume 105:Issue 6(2021) Page Start: 838 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). Issue 3 (20th March 2023) Authors: Nguyen, Quang; Woof, William; Kabiri, Nathaniel; Sen, Sagnik; Daich Varela, Malena; Cabral De Guimaraes, Thales Antonio; Shah, Mital; Sumodhee, Dayyanah; Moghul, Ismail; Al-Khuzaei, Saoud; Liu, Yichen; Hollyhead, Catherine; Tailor, Bhavna; Lobo, Loy; Veal, Carl; Archer, Stephen; Furman, Jennifer;... Other Names: author non-byline.; Hollyhead Catherine author non-byline.; Tailor Bhavna author non-byline.; Lobo Loy author non-byline.; Veal Carl author non-byline.; Archer Stephen author non-byline. Journal: BMJ open Issue: Volume 13:Issue 3(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism. (4th May 2021) Authors: Daich Varela, Malena; Hufnagel, Robert B.; Guan, Bin; Blain, Delphine; Sapp, Julie C.; Gropman, Andrea L.; Alur, Ramakrishna; Johnston, Jennifer J.; Biesecker, Leslie G.; Brooks, Brian P. Journal: Ophthalmic genetics Issue: Volume 42:Number 3(2021) Page Start: 320 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Functional evaluation in inherited retinal disease. Issue 11 (25th November 2021) Authors: Daich Varela, Malena; Georgiou, Michalis; Hashem, Shaima A; Weleber, Richard G; Michaelides, Michel Journal: British journal of ophthalmology Issue: Volume 106:Issue 11(2022) Page Start: 1479 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Gene Therapy in X-linked Retinitis Pigmentosa Due to Defects in RPGR. Issue 4 (28th September 2021) Authors: Georgiou, Michalis; Awadh Hashem, Shaima; Daich Varela, Malena; Michaelides, Michel Journal: International ophthalmology clinics Issue: Volume 61:Issue 4(2021) Page Start: 97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials. Issue 4 (12th March 2021) Authors: Daich Varela, Malena; Cabral de Guimaraes, Thales Antonio; Georgiou, Michalis; Michaelides, Michel Journal: British journal of ophthalmology Issue: Volume 106:Issue 4(2022) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies. Issue 4 (9th September 2022) Authors: Daich Varela, Malena; Bellingham, James; Motta, Fabiana; Jurkute, Neringa; Ellingford, Jamie M; Quinodoz, Mathieu; Oprych, Kathryn; Niblock, Michael; Janeschitz-Kriegl, Lucas; Kaminska, Karolina; Cancellieri, Francesca; Scholl, Hendrik P N; Lenassi, Eva; Schiff, Elena; Knight, Hannah; Black, Grae... Journal: Human molecular genetics Issue: Volume 32:Issue 4(2023) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Ophthalmic genetics in South America. Issue 3 (28th August 2020) Authors: Daich Varela, Malena; Moya, Rene; Schlottmann, Patricio G.; Hufnagel, Robert B.; Arberas, Claudia; Fernández, Federico M.; Inga, M. Eugenia; Lores, Juliana; Pachajoa, Harry; Prada, Carlos E.; Sallum, Juliana M. Ferraz Other Names: Hufnagel Robert guestEditor.; Walter Michael guestEditor.; Arno Gavin guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 3(2020) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗