1. Accuracy of a Deep Learning System for Classification of Papilledema Severity on Ocular Fundus Photographs. (27th July 2021) Authors: Vasseneix, Caroline; Najjar, Raymond P.; Xu, Xinxing; Tang, Zhiqun; Loo, Jing Liang; Singhal, Shweta; Tow, Sharon; Milea, Leonard; Ting, Daniel Shu Wei; Liu, Yong; Wong, Tien Y.; Newman, Nancy J.; Biousse, Valerie; Milea, Dan; Gohier, Philippe; Miller, Neil; Padungkiatsagul, Tanyatuth; Poonyathal... Journal: Neurology Issue: Volume 97:Number 4(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterization of Retinal Architecture in Spinocerebellar Ataxia Type 3 and Correlation with Disease Severity. Issue 4 (22nd December 2021) Authors: Rezende Filho, Flávio Moura; Jurkute, Neringa; de Andrade, João Brainer Clares; Marianelli, Bruna Ferraço; Ferraz Sallum, Juliana M.; Yu‐Wai‐Man, Patrick; Barsottini, Orlando G.; Pedroso, José Luiz Journal: Movement disorders Issue: Volume 37:Issue 4(2022) Page Start: 758 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dominant ACO2 mutations are a frequent cause of isolated optic atrophy. Issue 2 (7th April 2021) Authors: Charif, Majida; Gueguen, Naïg; Ferré, Marc; Elkarhat, Zouhair; Khiati, Salim; LeMao, Morgane; Chevrollier, Arnaud; Desquiret-Dumas, Valerie; Goudenège, David; Bris, Céline; Kane, Selma; Alban, Jennifer; Chupin, Stéphanie; Wetterwald, Céline; Caporali, Leonardo; Tagliavini, Francesca; LaMorgia, Ch... Journal: Brain communications Issue: Volume 3:Issue 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Leber hereditary optic neuropathy: bridging the translational gap. Issue 5 (September 2017) Authors: Jurkute, Neringa; Yu-Wai-Man, Patrick Journal: Current opinion in ophthalmology Issue: Volume 28:Issue 5(2017:Sep.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Leber Hereditary Optic Neuropathy—Light at the End of the Tunnel?. Issue 4 (July 2018) Authors: Kim, Ungsoo Samuel; Jurkute, Neringa; Yu‐Wai‐Man, Patrick Journal: Asia-Pacific journal of ophthalmology Issue: Volume 7:Issue 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS). (1st November 2020) Authors: Petzold, Axel; Biousse, Valerie; Bursztyn, Lulu; Costello, Fiona; Crum, Alison; Digre, Kathleen; Fraser, Clare; Fraser, J. Alex; Katz, Bradley; Jurkute, Neringa; Newman, Nancy; Lautrup-Battistini, Jette; Lawlor, Mitchell; Liskova, Petra; Lorenz, Birgit; Malmqvist, Lasse; Peragallo, Jason; Sibony,... Journal: Neuro-ophthalmology Issue: Volume 44:Number 6(2020) Page Start: 413 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS). (1st November 2020) Authors: Petzold, Axel; Biousse, Valerie; Bursztyn, Lulu; Costello, Fiona; Crum, Alison; Digre, Kathleen; Fraser, Clare; Fraser, J. Alex; Katz, Bradley; Jurkute, Neringa; Newman, Nancy; Lautrup-Battistini, Jette; Lawlor, Mitchell; Liskova, Petra; Lorenz, Birgit; Malmqvist, Lasse; Peragallo, Jason; Sibony,... Journal: Neuro-ophthalmology Issue: Volume 44:Number 6(2020) Page Start: 413 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. (June 2020) Authors: Charif, Majida; Chevrollier, Arnaud; Gueguen, Naïg; Bris, Céline; Goudenège, David; Desquiret-Dumas, Valérie; Leruez, Stéphanie; Colin, Estelle; Meunier, Audrey; Vignal, Catherine; Smirnov, Vasily; Defoort-Dhellemmes, Sabine; Drumare Bouvet, Isabelle; Goizet, Cyril; Votruba, Marcela; Jurkute, Ner... Journal: Neurology Issue: Volume 6:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model. Issue 3 (20th July 2021) Authors: Jurkute, Neringa; Bertacchi, Michele; Arno, Gavin; Tocco, Chiara; Kim, Ungsoo Samuel; Kruszewski, Adam M; Avery, Robert A; Bedoukian, Emma C; Han, Jinu; Ahn, Sung Jun; Pontikos, Nikolas; Acheson, James; Davagnanam, Indran; Bowman, Richard; Kaliakatsos, Marios; Gardham, Alice; Wakeling, Emma; Oluo... Journal: Brain communications Issue: Volume 3:Issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗