Our publications

• Deep-learning automated quantification of longitudinal OCT scans demonstrates reduced RPE loss rate, preservation of intact macular area and predictive value of isolated photoreceptor degeneration in geographic atrophy patients receiving C3 inhibition treatment.

Fu DJ, Glinton S, Lipkova V, Faes L, Liefers B, Zhang G, Pontikos N, McKeown A, Scheibler L, Patel PJ, Keane PA, Balaskas K.

Br J Ophthalmol (2023)

• Development and international validation of custom-engineered and code-free deep-learning models for detection of plus disease in retinopathy of prematurity: a retrospective study.

Wagner SK, Liefers B, Radia M, Zhang G, Struyven R, Faes L, Than J, Balal S, Hennings C, Kilduff C, Pooprasert P, Glinton S, Arunakirinathan M, Giannakis P, Braimah IZ, Ahmed ISH, Al-Feky M, Khalid H, Ferraz D, Vieira J, Jorge R, Husain S, Ravelo J, Hinds AM, Henderson R, Patel HI, Ostmo S, Campbell JP, Pontikos N, Patel PJ, Keane PA, Adams G, Balaskas K.

Lancet Digit Health (2023)

• The MATE trial: a multicentre, mixed-methodology, pilot, randomised controlled trial in neovascular age-related macular degeneration.

Airody A, Baseler HA, Seymour J, Allgar V, Mukherjee R, Downey L, Dhar-Munshi S, Mahmood S, Balaskas K, Empeslidis T, Hanson RLW, Dorey T, Szczerbicki T, Sivaprasad S, Gale RP.

Pilot Feasibility Stud (2023)

• A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.

Clark R, Lee SS, Du R, Wang Y, Kneepkens SCM, Charng J, Huang Y, Hunter ML, Jiang C, Tideman JWL, Melles RB, Klaver CCW, Mackey DA, Williams C, Choquet H, Ohno-Matsui K, Guggenheim JA, CREAM Consortium, UK Biobank Eye and Vision Consortium.

EBioMedicine (2023)

• Deciphering novel TCF4-driven molecular origins and mechanisms underlying a common triplet repeat expansion-mediated disease

Bhattacharyya N, Hafford-Tear NJ, Sadan AN, Szabo A, Chai N, Zarouchlioti C, Jedlickova J, Leung SK, Liao T, Dudakova L, Skalicka P, Parekh M, Jeffries AR, Cheetham ME, Muthusamy K, Hardcastle AJ, Pontikos N, Liskova P, Tuft SJ, Davidson AE.

(2023)

• Home vision monitoring in patients with maculopathy: current and future options for digital technologies.

Balaskas K, Drawnel F, Khanani AM, Knox PC, Mavromaras G, Wang YZ.

Eye (Lond) (2023)

• Classification of lapses in smokers attempting to stop: A supervised machine learning approach using data from a popular smoking cessation smartphone app.

Perski O, Li K, Pontikos N, Simons D, Goldstein SP, Naughton F, Brown J.

Nicotine Tob Res (2023)

• Association Between Retinal Features From Multimodal Imaging and Schizophrenia.

Wagner SK, Cortina-Borja M, Silverstein SM, Zhou Y, Romero-Bascones D, Struyven RR, Trucco E, Mookiah MRK, MacGillivray T, Hogg S, Liu T, Williamson DJ, Pontikos N, Patel PJ, Balaskas K, Alexander DC, Stuart KV, Khawaja AP, Denniston AK, Rahi JS, Petzold A, Keane PA.

JAMA Psychiatry (2023)

• Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).

Nguyen Q, Woof W, Kabiri N, Sen S, Daich Varela M, Cabral De Guimaraes TA, Shah M, Sumodhee D, Moghul I, Al-Khuzaei S, Liu Y, Hollyhead C, Tailor B, Lobo L, Veal C, Archer S, Furman J, Arno G, Gomes M, Fujinami K, Madhusudhan S, Mahroo OA, Webster AR, Balaskas K, Downes SM, Michaelides M, Pontikos N, Eye2Gene Patient Advisory Group.

BMJ Open (2023)

• Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.

Liu S, Sadan AN, Muthusamy K, Zarouchlioti C, Jedlickova J, Pontikos N, Thaung C, Hardcastle AJ, Netukova M, Skalicka P, Dudakova L, Bunce C, Tuft SJ, Davidson AE, Liskova P.

Acta Ophthalmol (2023)

• Macular Telangiectasia Type 2: A Classification System Using MultiModal Imaging MacTel Project Report Number 10.

Chew EY, Peto T, Clemons TE, Sallo FB, Pauleikhoff D, Leung I, Jaffe GJ, Heeren TFC, Egan CA, Charbel Issa P, Balaskas K, Holz FG, Gaudric A, Bird AC, Friedlander M.

Ophthalmol Sci (2023)

• Associations Between HbA1c Across the Normal Range, Diagnosed, and Undiagnosed Diabetes and Retinal Layer Thickness in UK Biobank Cohort.

Chua SYL, Welsh P, Sun Z, Balaskas K, Warwick A, Steel D, Sivaprasad S, Channa R, Ko T, Sattar N, Khawaja AP, Foster PJ, Patel PJ, UK Biobank Eye and Vision Consortium.

Transl Vis Sci Technol (2023)

• Biomarkers of macular neovascularisation activity using optical coherence tomography angiography in treated stable neovascular age related macular degeneration.

Hanumunthadu D, Saleh A, Florea D, Balaskas K, Keane PA, Aslam T, Patel PJ.

BMC Ophthalmol (2023)

• Safety and efficacy of an artificial intelligence-enabled decision tool for treatment decisions in neovascular age-related macular degeneration and an exploration of clinical pathway integration and implementation: protocol for a multi-methods validation study.

Hogg HDJ, Brittain K, Teare D, Talks J, Balaskas K, Keane P, Maniatopoulos G.

BMJ Open (2023)

• SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease.

Veturi YA, Woof W, Lazebnik T, Moghul I, Woodward-Court P, Wagner SK, Cabral de Guimarães TA, Daich Varela M, Liefers B, Patel PJ, Beck S, Webster AR, Mahroo O, Keane PA, Michaelides M, Balaskas K, Pontikos N.

Ophthalmol Sci (2023)

• Correction: UK Biobank retinal imaging grading: methodology, baseline characteristics and findings for common ocular diseases.

Warwick AN, Curran K, Hamill B, Stuart K, Khawaja AP, Foster PJ, Lotery AJ, Quinn M, Madhusudhan S, Balaskas K, Peto T, UKBB Eye and Vision Consortium.

Eye (Lond) (2023)

• RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M.

Ophthalmology (2023)

• Reply to Comment on: Personalized model to predict keratoconus progression from demographic, topographic and genetic data.

Maile HP, Li JO, Pontikos N, Gore DM, Tuft SJ.

Am J Ophthalmol (2023)

• Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.

Yahya S, Smith CEL, Poulter JA, McKibbin M, Arno G, Ellingford J, Kämpjärvi K, Khan MI, Cremers FPM, Hardcastle AJ, Castle B, Steel DHW, Webster AR, Black GC, El-Asrag ME, Ali M, Toomes C, Inglehearn CF, UK Inherited Retinal Dystrophy Consortium, Genomics England Research Consortium.

Ophthalmology (2023)

• The Association of Alcohol Consumption with Glaucoma and Related Traits: Findings from the UK Biobank.

Stuart KV, Luben RN, Warwick AN, Madjedi KM, Patel PJ, Biradar MI, Sun Z, Chia MA, Pasquale LR, Wiggs JL, Kang JH, Kim J, Aschard H, Tran JH, Lentjes MAH, Foster PJ, Khawaja AP, Modifiable Risk Factors for Glaucoma Collaboration, the UK Biobank Eye and Vision Consortium, and the International Glaucoma Genetics Consortium, Members of the Modifiable Risk Factors for Glaucoma Collaboration, Members of the UK Biobank Eye and Vision Consortium, Members of the International Glaucoma Genetics Consortium.

Ophthalmol Glaucoma (2022)

• UK Biobank retinal imaging grading: methodology, baseline characteristics and findings for common ocular diseases.

Warwick AN, Curran K, Hamill B, Stuart K, Khawaja AP, Foster PJ, Lotery AJ, Quinn M, Madhusudhan S, Balaskas K, Peto T, UKBB Eye and Vision Consortium.

Eye (Lond) (2022)

• Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using deep-learning

Pontikos N, Woof W, Veturi A, Javanmardi B, Ibarra-Arellano M, Hustinx A, Moghul I, Liu Y, Heß K, Georgiou M, Pfau M, Shah M, Yu J, Al-Khuzaei S, Wagner S, Varela MD, de Guimarães TC, Sen S, Kabiri N, Nguyen Q, Furman J, Liefers B, Lee A, De Silva S, Texeira C, Motta F, Fujinami-Yokokawa Y, Arno G, Fujinami K, Sallum J, Madhusudhan S, Downes S, Holz F, Balaskas K, Webster A, Mahroo O, Krawitz P, Michaelides M.

(2022)

• Visual acuity outcome of stable proliferative diabetic retinopathy following initial complete panretinal photocoagulation

Fu D, Thottarath S, Faes L, Balaskas K, Keane P, Sim D, Sivaprasad S.

BMJ Open Ophthalmol (2022)

• Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.

Glinton SL, Calcagni A, Lilaonitkul W, Pontikos N, Vermeirsch S, Zhang G, Arno G, Wagner SK, Michaelides M, Keane PA, Webster AR, Mahroo OA, Robson AG.

Transl Vis Sci Technol (2022)

• OP-3 Personalised model to predict keratoconus progression from demographic, topographic and genetic data.

Li O, Maile HP, Fortune MD, Royston PJ, Leucci MT, Allan BD, Hardcastle AJ, Hysi P, Pontikos N, Tuft SJ, Gore DM.

BMJ Open Ophthalmol (2022)

• Prediction of visual function from automatically quantified optical coherence tomography biomarkers in patients with geographic atrophy using machine learning.

Balaskas K, Glinton S, Keenan TDL, Faes L, Liefers B, Zhang G, Pontikos N, Struyven R, Wagner SK, McKeown A, Patel PJ, Keane PA, Fu DJ.

Sci Rep (2022)

• Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.

Sazonovs A, Stevens CR, Venkataraman GR, Yuan K, Avila B, Abreu MT, Ahmad T, Allez M, Ananthakrishnan AN, Atzmon G, Baras A, Barrett JC, Barzilai N, Beaugerie L, Beecham A, Bernstein CN, Bitton A, Bokemeyer B, Chan A, Chung D, Cleynen I, Cosnes J, Cutler DJ, Daly A, Damas OM, Datta LW, Dawany N, Devoto M, Dodge S, Ellinghaus E, Fachal L, Farkkila M, Faubion W, Ferreira M, Franchimont D, Gabriel SB, Ge T, Georges M, Gettler K, Giri M, Glaser B, Goerg S, Goyette P, Graham D, Hämäläinen E, Haritunians T, Heap GA, Hiltunen M, Hoeppner M, Horowitz JE, Irving P, Iyer V, Jalas C, Kelsen J, Khalili H, Kirschner BS, Kontula K, Koskela JT, Kugathasan S, Kupcinskas J, Lamb CA, Laudes M, Lévesque C, Levine AP, Lewis JD, Liefferinckx C, Loescher BS, Louis E, Mansfield J, May S, McCauley JL, Mengesha E, Mni M, Moayyedi P, Moran CJ, Newberry RD, O'Charoen S, Okou DT, Oldenburg B, Ostrer H, Palotie A, Paquette J, Pekow J, Peter I, Pierik MJ, Ponsioen CY, Pontikos N, Prescott N, Pulver AE, Rahmouni S, Rice DL, Saavalainen P, Sands B, Sartor RB, Schiff ER, Schreiber S, Schumm LP, Segal AW, Seksik P, Shawky R, Sheikh SZ, Silverberg MS, Simmons A, Skeiceviciene J, Sokol H, Solomonson M, Somineni H, Sun D, Targan S, Turner D, Uhlig HH, van der Meulen AE, Vermeire S, Verstockt S, Voskuil MD, Winter HS, Young J, Belgium IBD Consortium, Cedars-Sinai IBD, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, NIHR IBD BioResource, Regeneron Genetics Center, SHARE Consortium, SPARC IBD Network, UK IBD Genetics Consortium, Duerr RH, Franke A, Brant SR, Cho J, Weersma RK, Parkes M, Xavier RJ, Rivas MA, Rioux JD, McGovern DPB, Huang H, Anderson CA, Daly MJ.

Nat Genet (2022)

• Publisher Correction: Reporting guideline for the early-stage clinical evaluation of decision support systems driven by artificial intelligence: DECIDE-AI.

Vasey B, Nagendran M, Campbell B, Clifton DA, Collins GS, Denaxas S, Denniston AK, Faes L, Geerts B, Ibrahim M, Liu X, Mateen BA, Mathur P, McCradden MD, Morgan L, Ordish J, Rogers C, Saria S, Ting DSW, Watkinson P, Weber W, Wheatstone P, McCulloch P, DECIDE-AI expert group.

Nat Med (2022)

• Phenotype-aware prioritisation of rare Mendelian disease variants.

Kelly C, Szabo A, Pontikos N, Arno G, Robinson PN, Jacobsen JOB, Smedley D, Cipriani V.

Trends Genet (2022)

• Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.

Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I.

Am J Hum Genet (2022)

• Classification of lapses in smokers attempting to stop: A supervised machine learning approach using data from a popular smoking cessation smartphone app

Perski O, Li K, Pontikos N, Simons D, Goldstein SP, Naughton F, Brown J.

(2022)

• Protocol for a qualitative study to explore acceptability, barriers and facilitators of the implementation of new teleophthalmology technologies between community optometry practices and hospital eye services.

Blandford A, Abdi S, Aristidou A, Carmichael J, Cappellaro G, Hussain R, Balaskas K.

BMJ Open (2022)

• A recurrent variant in <i>LIM2</i> causes an isolated congenital sutural/lamellar cataract in a Japanese family.

Berry V, Fujinami K, Mochizuki K, Iwata T, Pontikos N, Quinlan RA, Michaelides M.

Ophthalmic Genet (2022)

• The GA4GH Phenopacket schema defines a computable representation of clinical data.

Jacobsen JOB, Baudis M, Baynam GS, Beckmann JS, Beltran S, Buske OJ, Callahan TJ, Chute CG, Courtot M, Danis D, Elemento O, Essenwanger A, Freimuth RR, Gargano MA, Groza T, Hamosh A, Harris NL, Kaliyaperumal R, Lloyd KCK, Khalifa A, Krawitz PM, Köhler S, Laraway BJ, Lehväslaiho H, Matalonga L, McMurry JA, Metke-Jimenez A, Mungall CJ, Munoz-Torres MC, Ogishima S, Papakonstantinou A, Piscia D, Pontikos N, Queralt-Rosinach N, Roos M, Sass J, Schofield PN, Seelow D, Siapos A, Smedley D, Smith LD, Steinhaus R, Sundaramurthi JC, Swietlik EM, Thun S, Vasilevsky NA, Wagner AH, Warner JL, Weiland C, GAGH Phenopacket Modeling Consortium, Haendel MA, Robinson PN.

Nat Biotechnol (2022)

• Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia.

Jiang X, Xu Z, Soorma T, Tariq A, Bhatti T, Baneke AJ, Pontikos N, Leo SM, Webster AR, Williams KM, Hammond CJ, Hysi PG, Mahroo OA.

Proc Natl Acad Sci U S A (2022)

• Reporting guideline for the early-stage clinical evaluation of decision support systems driven by artificial intelligence: DECIDE-AI.

Vasey B, Nagendran M, Campbell B, Clifton DA, Collins GS, Denaxas S, Denniston AK, Faes L, Geerts B, Ibrahim M, Liu X, Mateen BA, Mathur P, McCradden MD, Morgan L, Ordish J, Rogers C, Saria S, Ting DSW, Watkinson P, Weber W, Wheatstone P, McCulloch P, DECIDE-AI expert group.

Nat Med (2022)

• Reporting guideline for the early stage clinical evaluation of decision support systems driven by artificial intelligence: DECIDE-AI.

Vasey B, Nagendran M, Campbell B, Clifton DA, Collins GS, Denaxas S, Denniston AK, Faes L, Geerts B, Ibrahim M, Liu X, Mateen BA, Mathur P, McCradden MD, Morgan L, Ordish J, Rogers C, Saria S, Ting DSW, Watkinson P, Weber W, Wheatstone P, McCulloch P, DECIDE-AI expert group.

BMJ (2022)

• Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic Data.

Maile HP, Li JO, Fortune MD, Royston P, Leucci MT, Moghul I, Szabo A, Balaskas K, Allan BD, Hardcastle AJ, Hysi P, Pontikos N, Tuft SJ, Gore DM.

Am J Ophthalmol (2022)

• Artificial Intelligence and Imaging Processing in Optical Coherence Tomography and Digital Images in Uveitis.

Abellanas M, Elena MJ, Keane PA, Balaskas K, Grewal DS, Carreño E.

Ocul Immunol Inflamm (2022)

• Long-term Retinal Morphology and Functional Associations in Treated Neovascular Age-Related Macular Degeneration: Findings from the Inhibition of VEGF in Age-Related Choroidal Neovascularisation Trial.

Peto T, Evans RN, Reeves BC, Harding S, Madhusudhan S, Lotery A, Downes S, Balaskas K, Bailey CC, Foss A, Ghanchi F, Yang Y, Phillips D, Rogers CA, Muldrew A, Hamill B, Chakravarthy U.

Ophthalmol Retina (2022)

• AlzEye: longitudinal record-level linkage of ophthalmic imaging and hospital admissions of 353 157 patients in London, UK.

Wagner SK, Hughes F, Cortina-Borja M, Pontikos N, Struyven R, Liu X, Montgomery H, Alexander DC, Topol E, Petersen SE, Balaskas K, Hindley J, Petzold A, Rahi JS, Denniston AK, Keane PA.

BMJ Open (2022)

• Associations of Alcohol Consumption and Smoking With Disease Risk and Neurodegeneration in Individuals With Multiple Sclerosis in the United Kingdom.

Kleerekooper I, Chua S, Foster PJ, Trip SA, Plant GT, Petzold A, Patel P, UK Biobank Eye and Vision Consortium.

JAMA Netw Open (2022)

• Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.

Liskova P, Hafford-Tear NJ, Skalicka P, Malinka F, Jedlickova J, Ďuďáková Ľ, Pontikos N, Davidson AE, Tuft S.

Acta Ophthalmol (2022)

• Evaluating an automated machine learning model that predicts visual acuity outcomes in patients with neovascular age-related macular degeneration.

Abbas A, O'Byrne C, Fu DJ, Moraes G, Balaskas K, Struyven R, Beqiri S, Wagner SK, Korot E, Keane PA.

Graefes Arch Clin Exp Ophthalmol (2022)

• Teleophthalmology-enabled and artificial intelligence-ready referral pathway for community optometry referrals of retinal disease (HERMES): a Cluster Randomised Superiority Trial with a linked Diagnostic Accuracy Study-HERMES study report 1-study protocol.

Han JED, Liu X, Bunce C, Douiri A, Vale L, Blandford A, Lawrenson J, Hussain R, Grimaldi G, Learoyd AE, Kernohan A, Dinah C, Minos E, Sim D, Aslam T, Patel PJ, Denniston AK, Keane PA, Balaskas K.

BMJ Open (2022)

• Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study.

Gilbert RM, Sumodhee D, Pontikos N, Hollyhead C, Patrick A, Scarles S, Van Der Smissen S, Young RM, Nettleton N, Webster AR, Cammack J.

JMIR Form Res (2022)

• Machine-learning and Automatically Segmented Retinal Biomarkers Generate Spatial Heatmaps Predictive for Standard and Low Luminance Visual Acuity in Geographic Atrophy

Balaskas K, Glinton S, Keenan T, Faes L, Liefers B, Zhang G, Pontikos N, Struyven R, Wagner S, McKeown A, Patel P, Keane P, Fu DJ.

(2022)

• Enablers and Barriers to Deployment of Smartphone-Based Home Vision Monitoring in Clinical Practice Settings.

Korot E, Pontikos N, Drawnel FM, Jaber A, Fu DJ, Zhang G, Miranda MA, Liefers B, Glinton S, Wagner SK, Struyven R, Kilduff C, Moshfeghi DM, Keane PA, Sim DA, Thomas PBM, Balaskas K.

JAMA Ophthalmol (2022)

• Dynamic volume-rendered optical coherence tomography pupillometry.

Maloca PM, de Carvalho ER, Hasler PW, Balaskas K, Inglin N, Petzold A, Egan C, Tufail A, Scholl HPN, Valmaggia P.

Acta Ophthalmol (2022)

• Pathogenic variants in the <i>CYP21A2</i> gene cause isolated autosomal dominant congenital posterior polar cataracts.

Berry V, Pontikos N, Ionides A, Kalitzeos A, Quinlan RA, Michaelides M.

Ophthalmic Genet (2022)

• Fractionated Stereotactic Radiation Therapy for Pituitary Adenomas: An alternative escalating protocol of hypofractionated stereotactic radiotherapy delivering 35Gy in 5 fractions.

Sumodhee S, Atallah V, Kinj R, Doyen J, L'Homel B, Gillon P, Paquis P, Almairac F, Hieronimus S, Schiappa R, Sadoul JL, Sumodhee D, Pontikos N, Richier Q, Hannoun-Levi JM, Scouarnec C, Chevalier N, Bondiau PY.

Cancer Radiother (2022)

• Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.

Berry V, Ionides A, Pontikos N, Moore AT, Quinlan RA, Michaelides M.

Eye (Lond) (2022)

• Re-evaluating diabetic papillopathy using optical coherence tomography and inner retinal sublayer analysis.

Huemer J, Khalid H, Ferraz D, Faes L, Korot E, Jurkute N, Balaskas K, Egan CA, Petzold A, Keane PA.

Eye (Lond) (2022)

• Intravitreal injections: past trends and future projections within a UK tertiary hospital.

Chopra R, Preston GC, Keenan TDL, Mulholland P, Patel PJ, Balaskas K, Hamilton RD, Keane PA.

Eye (Lond) (2022)

• Prospective validation of a virtual clinic pathway in the management of choroidal naevi: the NAEVUS study Report no. 1: safety assessment.

Al Harby L, Ali Z, Rajai A, Roberts SA, Peto T, Leung I, Gray J, Hay G, Arora AK, Keane PA, Cohen VML, Sagoo M, Balaskas K.

Br J Ophthalmol (2022)

• Outcomes following implementation of a high-volume medical retina virtual clinic utilising a diagnostic hub during COVID-19.

Hanumunthadu D, Adan K, Tinkler K, Balaskas K, Hamilton R, Nicholson L, Moorfields Medical Retina Virtual Assessment Study Group.

Eye (Lond) (2022)

• Association of ambient air pollution with age-related macular degeneration and retinal thickness in UK Biobank.

Chua SYL, Warwick A, Peto T, Balaskas K, Moore AT, Reisman C, Desai P, Lotery AJ, Dhillon B, Khaw PT, Owen CG, Khawaja AP, Foster PJ, Patel PJ, UK Biobank Eye and Vision Consortium.

Br J Ophthalmol (2022)

• Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review.

Maile H, Li JO, Gore D, Leucci M, Mulholland P, Hau S, Szabo A, Moghul I, Balaskas K, Fujinami K, Hysi P, Davidson A, Liskova P, Hardcastle A, Tuft S, Pontikos N.

JMIR Med Inform (2021)

• The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

Jacobsen JOB, Baudis M, Baynam GS, Beckmann JS, Beltran S, Callahan TJ, Chute CG, Courtot M, Danis D, Elemento O, Freimuth RR, Gargano MA, Groza T, Hamosh A, Harris NL, Kaliyaperumal R, Khalifa A, Krawitz PM, Köhler S, Laraway BJ, Lehväslaiho H, Lloyd KC, Matalonga L, McMurry JA, Metke-Jimenez A, Mungall CJ, Munoz-Torres MC, Ogishima S, Papakonstantinou A, Piscia D, Pontikos N, Queralt-Rosinach N, Roos M, Schofield PN, Siapos A, Smedley D, Smith LD, Steinhaus R, Sundaramurthi JC, Swietlik EM, Thun S, Vasilevsky NA, Wagner AH, Warner JL, Weiland C, Haendel MA, Robinson PN.

(2021)

• 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, Robinson PN, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O'Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AM, Yu-Wai-Man P, Turnbull DM, McFarland R, Taylor RW, O'Connor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Németh AH, Palles C, Patel S, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M.

N Engl J Med (2021)

• Uncovering of intraspecies macular heterogeneity in cynomolgus monkeys using hybrid machine learning optical coherence tomography image segmentation.

Maloca PM, Seeger C, Booler H, Valmaggia P, Kawamoto K, Kaba Q, Inglin N, Balaskas K, Egan C, Tufail A, Scholl HPN, Hasler PW, Denk N.

Sci Rep (2021)

• SVRare: discovering disease-causing structural variants in the 100K Genomes Project

Yu J, Szabo A, Pagnamenta AT, Shalaby A, Giacopuzzi E, Taylor J, Shears D, Pontikos N, Wright G, Michaelides M, Halford S, Downes S, Genomics England Research Consortium.

(2021)

• Clinically relevant deep learning for detection and quantification of geographic atrophy from optical coherence tomography: a model development and external validation study.

Zhang G, Fu DJ, Liefers B, Faes L, Glinton S, Wagner S, Struyven R, Pontikos N, Keane PA, Balaskas K.

Lancet Digit Health (2021)

• Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT, Genomics England Research Consortium, Webster AR, Studer M, Yu-Wai-Man P.

Brain Commun (2021)

• Agreement Between Spectral-Domain and Swept-Source Optical Coherence Tomography Retinal Thickness Measurements in Macular and Retinal Disease.

Hanumunthadu D, Keane PA, Balaskas K, Dubis AM, Kalitzeos A, Michaelides M, Patel PJ.

Ophthalmol Ther (2021)

• Validation and Clinical Applicability of Whole-Volume Automated Segmentation of Optical Coherence Tomography in Retinal Disease Using Deep Learning.

Wilson M, Chopra R, Wilson MZ, Cooper C, MacWilliams P, Liu Y, Wulczyn E, Florea D, Hughes CO, Karthikesalingam A, Khalid H, Vermeirsch S, Nicholson L, Keane PA, Balaskas K, Kelly CJ.

JAMA Ophthalmol (2021)

• Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

Sazonovs A, Stevens CR, Venkataraman GR, Yuan K, Avila B, Abreu MT, Ahmad T, Allez M, Ananthakrishnan AN, Atzmon G, Baras A, Barrett JC, Barzilai N, Beaugerie L, Beecham A, Bernstein CN, Bitton A, Bokemeyer B, Chan A, Chung D, Cleynen I, Cosnes J, Cutler DJ, Daly A, Damas OM, Datta LW, Dawany N, Devoto M, Dodge S, Ellinghaus E, Fachal L, Farkkila M, Faubion W, Ferreira M, Franchimont D, Gabriel SB, Georges M, Gettler K, Giri M, Glaser B, Goerg S, Goyette P, Graham D, Hämäläinen E, Haritunians T, Heap GA, Hiltunen M, Hoeppner M, Horowitz JE, Irving P, Iyer V, Jalas C, Kelsen J, Khalili H, Kirschner BS, Kontula K, Koskela JT, Kugathasan S, Kupcinskas J, Lamb CA, Laudes M, Levine AP, Lewis J, Liefferinckx C, Loescher B, Louis E, Mansfield J, May S, McCauley JL, Mengesha E, Mni M, Moayyedi P, Moran CJ, Newberry R, O’Charoen S, Okou DT, Oldenburg B, Ostrer H, Palotie A, Pekow J, Peter I, Pierik MJ, Ponsioen CY, Pontikos N, Prescott N, Pulver AE, Rahmouni S, Rice DL, Saavalainen P, Sands B, Sartor RB, Schiff ER, Schreiber S, Schuum LP, Segal AW, Seksik P, Shawky R, Sheikh SZ, Silverberg M, Simmons A, Skeiceviciene J, Sokol H, Solomonson M, Somineni H, Sun D, Targan S, Turner D, Uhlig HH, van der Meulen AE, Vermeire S, Verstockt S, Voskuil MD, Winter HS, Young J, Duerr RH, Franke A, Brant SR, Cho J, Weersma RK, Parkes M, Xavier R, Rivas MA, Rioux JD, McGovern D, Huang H, Anderson CA, Daly MJ, Belgium IBD Consortium, Cedars-Sinai IBD, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, NIHR IBD BioResource, Regeneron Genetics Center, SHARE Consortium, SPARC IBD Network, UK IBD Genetics Consortium.

(2021)

• Evaluation of training, patient and practitioner perspectives on community-based monitoring of patients with stable age-related macular degeneration compared to hospital-based care: The FENETRE study report no. 1.

Read S, Lawrenson JG, Harper RA, Hanley T, Balaskas K, Waterman H.

Ophthalmic Physiol Opt (2021)

• Smartphone-based remote monitoring of vision in macular disease enables early detection of worsening pathology and need for intravitreal therapy.

Islam M, Sansome S, Das R, Lukic M, Chong Teo KY, Tan G, Balaskas K, Thomas PBM, Bachmann LM, Schimel AM, Sim DA.

BMJ Health Care Inform (2021)

• Artificial intelligence extension of the OSCAR-IB criteria.

Petzold A, Albrecht P, Balcer L, Bekkers E, Brandt AU, Calabresi PA, Deborah OG, Graves JS, Green A, Keane PA, Nij Bijvank JA, Sander JW, Paul F, Saidha S, Villoslada P, Wagner SK, Yeh EA, IMSVISUAL, ERN-EYE Consortium.

Ann Clin Transl Neurol (2021)

• Artificial Intelligence to Reduce Ocular Health Disparities: Moving From Concept to Implementation.

Campbell JP, Mathenge C, Cherwek H, Balaskas K, Pasquale LR, Keane PA, Chiang MF, American Academy of Ophthalmology Task Force on Artificial Intelligence.

Transl Vis Sci Technol (2021)

• Predicting sex from retinal fundus photographs using automated deep learning.

Korot E, Pontikos N, Liu X, Wagner SK, Faes L, Huemer J, Balaskas K, Denniston AK, Khawaja A, Keane PA.

Sci Rep (2021)

• FENETRE study: quality-assured follow-up of quiescent neovascular age-related macular degeneration by non-medical practitioners: study protocol and statistical analysis plan for a randomised controlled trial.

Learoyd AE, Tufail A, Bunce C, Keane PA, Kernohan A, Robinson E, Jaber A, Sadiq S, Harper R, Lawrenson J, Vale L, Waterman H, Douiri A, Balaskas K, FENETRE study group.

BMJ Open (2021)

• Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.

Dudakova L, Stranecky V, Piherova L, Palecek T, Pontikos N, Kmoch S, Skalicka P, Vaneckova M, Davidson AE, Liskova P.

Genes (Basel) (2021)

• Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques.

Fujinami-Yokokawa Y, Ninomiya H, Liu X, Yang L, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K, Japan Eye Genetics Study (JEGC) Group.

Br J Ophthalmol (2021)

• Importance of Anatomical Efficacy for Disease Control in Neovascular AMD: An Expert Opinion.

Balaskas K, Amoaku WM, Cudrnak T, Downey LM, Groppe M, Mahmood S, Mehta H, Mohamed Q, Mushtaq B, Severn P, Vardarinos A, Yang YC.

Ophthalmol Ther (2021)

• Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.

Bonelli R, Jackson VE, Prasad A, Munro JE, Farashi S, Heeren TFC, Pontikos N, Scheppke L, Friedlander M, MacTel Consortium, Egan CA, Allikmets R, Ansell BRE, Bahlo M.

Commun Biol (2021)

• Predicting Sex from Retinal Fundus Photographs Using Automated Deep Learning

Korot E, Pontikos N, Liu X, Wagner SK, Faes L, Huemer J, Balaskas K, Denniston AK, Khawaja A, Keane PA.

(2021)

• Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia.

Tideman JWL, Pärssinen O, Haarman AEG, Khawaja AP, Wedenoja J, Williams KM, Biino G, Ding X, Kähönen M, Lehtimäki T, Raitakari OT, Cheng CY, Jonas JB, Young TL, Bailey-Wilson JE, Rahi J, Williams C, He M, Mackey DA, Guggenheim JA, UK Biobank Eye and Vision Consortium and the Consortium for Refractive Error and Myopia (CREAM Consortium).

JAMA Ophthalmol (2021)

• Variants in PAX6, PITX3 and HSF4 Causing Autosomal Dominant Congenital Cataract

Berry V, Ionides A, Pontikos N, Moore AT, Quinlan RA, Michaelides M.

(2021)

• Fundus Autofluorescence Imaging in Macular Telangiectasia Type 2: MacTel Study Report Number 9.

Pauleikhoff L, Heeren TFC, Gliem M, Lim E, Pauleikhoff D, Holz FG, Clemons T, Balaskas K, MACTEL STUDY GROUP, Egan CA, Charbel Issa P.

Am J Ophthalmol (2021)

• Panel-based genetic testing for inherited retinal disease screening 176 genes.

Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M.

Mol Genet Genomic Med (2021)

• KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.

Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, De Guimarães TAC, Robson AG, Mahroo OA, Pontikos N, Arno G, Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T, Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carreño E, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi ME, Wissinger B, Webster AR, Héon E, Khan AO, Zrenner E, Michaelides M.

Am J Ophthalmol (2021)

• Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.

Georgiou M, Ali N, Yang E, Grewal PS, Rotsos T, Pontikos N, Robson AG, Michaelides M.

Orphanet J Rare Dis (2021)

• Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.

Bonelli R, Jackson VE, Prasad A, Munro JE, Farashi S, Heeren TFC, Pontikos N, Scheppke L, Friedlander M, MacTel Consortium, Egan CA, Allikmets R, Ansell BRE, Bahlo M.

Commun Biol (2021)

• A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

Hardcastle AJ, Liskova P, Bykhovskaya Y, McComish BJ, Davidson AE, Inglehearn CF, Li X, Choquet H, Habeeb M, Lucas SEM, Sahebjada S, Pontikos N, Lopez KER, Khawaja AP, Ali M, Dudakova L, Skalicka P, Van Dooren BTH, Geerards AJM, Haudum CW, Faro VL, Tenen A, Simcoe MJ, Patasova K, Yarrand D, Yin J, Siddiqui S, Rice A, Farraj LA, Chen YI, Rahi JS, Krauss RM, Theusch E, Charlesworth JC, Szczotka-Flynn L, Toomes C, Meester-Smoor MA, Richardson AJ, Mitchell PA, Taylor KD, Melles RB, Aldave AJ, Mills RA, Cao K, Chan E, Daniell MD, Wang JJ, Rotter JI, Hewitt AW, MacGregor S, Klaver CCW, Ramdas WD, Craig JE, Iyengar SK, O'Brart D, Jorgenson E, Baird PN, Rabinowitz YS, Burdon KP, Hammond CJ, Tuft SJ, Hysi PG.

Commun Biol (2021)

• Unraveling the deep learning gearbox in optical coherence tomography image segmentation towards explainable artificial intelligence.

Maloca PM, Müller PL, Lee AY, Tufail A, Balaskas K, Niklaus S, Kaiser P, Suter S, Zarranz-Ventura J, Egan C, Scholl HPN, Schnitzer TK, Singer T, Hasler PW, Denk N.

Commun Biol (2021)

• Predicting Incremental and Future Visual Change in Neovascular Age-Related Macular Degeneration Using Deep Learning.

Fu DJ, Faes L, Wagner SK, Moraes G, Chopra R, Patel PJ, Balaskas K, Keenan TDL, Bachmann LM, Keane PA.

Ophthalmol Retina (2021)

• Quantification of Key Retinal Features in Early and Late Age-Related Macular Degeneration Using Deep Learning.

Liefers B, Taylor P, Alsaedi A, Bailey C, Balaskas K, Dhingra N, Egan CA, Rodrigues FG, Gonzalo CG, Heeren TFC, Lotery A, Müller PL, Olvera-Barrios A, Paul B, Schwartz R, Thomas DS, Warwick AN, Tufail A, Sánchez CI.

Am J Ophthalmol (2021)

• Statistical Modelling of the Visual Impact of Subretinal Fluid and Associated Features.

Aslam TM, Mahmood S, Balaskas K, Hoyle DC.

Ophthalmol Ther (2021)

• Deliberations of an International Panel of Experts on OCT Angiography Nomenclature of Neovascular Age-Related Macular Degeneration.

Mendonça LSM, Perrott-Reynolds R, Schwartz R, Madi HA, Cronbach N, Gendelman I, Muldrew A, Bannon F, Balaskas K, Gemmy Cheung CM, Fawzi A, Ferrara D, Freund KB, Fujimoto J, Munk MR, Querques G, Ribeiro R, Rosenfeld PJ, Sadda SR, Sahni J, Sarraf D, Spaide RF, Schmidt-Erfurth U, Souied E, Staurenghi G, Tadayoni R, Wang RK, Chakravarthy U, Waheed NK.

Ophthalmology (2021)

• KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.

Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M.

Am J Ophthalmol (2021)

• Phenotyping of retinal neovascularization in ischemic retinal vein occlusion using wide field OCT angiography.

Huemer J, Khalid H, Wagner SK, Nicholson L, Fu DJ, Sim DA, Patel PJ, Balaskas K, Rajendram R, Keane PA.

Eye (Lond) (2021)

• Insights From Survival Analyses During 12 Years of Anti-Vascular Endothelial Growth Factor Therapy for Neovascular Age-Related Macular Degeneration.

Fu DJ, Keenan TD, Faes L, Lim E, Wagner SK, Moraes G, Huemer J, Kern C, Patel PJ, Balaskas K, Sim DA, Bunce C, Stratton I, Keane PA.

JAMA Ophthalmol (2021)

• A virtual-clinic pathway for patients referred from a national diabetes eye screening programme reduces service demands whilst maintaining quality of care.

Faes L, Fu DJ, Huemer J, Kern C, Wagner SK, Fasolo S, Hamilton R, Egan C, Balaskas K, Keane PA, Bachmann LM, Sim DA.

Eye (Lond) (2021)

• Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.

Casalino G, Khan KN, Armengol M, Wright G, Pontikos N, Georgiou M, Webster AR, Robson AG, Grewal PS, Michaelides M.

Ophthalmology (2021)

• Ten-year survival trends of neovascular age-related macular degeneration at first presentation.

Arpa C, Khalid H, Chandra S, Wagner S, Fasler K, Faes L, Pooprasert P, Chopra R, Moraes G, Balaskas K, Keane PA, Sivaprasad S, Fu DJ.

Br J Ophthalmol (2021)

Quantitative Analysis of OCT for Neovascular Age-Related Macular Degeneration Using Deep Learning.
Moraes G, Fu DJ, Wilson M, Khalid H, Wagner SK, Korot E, Ferraz D, Faes L, Kelly CJ, Spitz T, Patel PJ, Balaskas K, Keenan TDL, Keane PA, Chopra R.

Ophthalmology (2021)

• Exploring the potential for acute anterior uveitis (AAU) patients to self-manage recurrences via a mobile application: qualitative analysis of a Moorfields Patient Experience focus group.

Lahiri S, Sumodhee D, Alkarmi K, Pontikos N, Petrushkin H, Gilbert R.

Eye (Lond) (2021)

• The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.

De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA.

Prog Retin Eye Res (2021)

• Impact of injection frequency on 5-year real-world visual acuity outcomes of aflibercept therapy for neovascular age-related macular degeneration.

Chandra S, Rasheed R, Menon D, Patrao N, Lamin A, Gurudas S, Balaskas K, Patel PJ, Ali N, Sivaprasad S.

Eye (Lond) (2021)

• Diagnostic accuracy of diabetic retinopathy grading by an artificial intelligence-enabled algorithm compared with a human standard for wide-field true-colour confocal scanning and standard digital retinal images.

Olvera-Barrios A, Heeren TF, Balaskas K, Chambers R, Bolter L, Egan C, Tufail A, Anderson J.

Br J Ophthalmol (2021)

• An open-source data set of anti-VEGF therapy in diabetic macular oedema patients over 4 years and their visual acuity outcomes.

Kern C, Fu DJ, Huemer J, Faes L, Wagner SK, Kortuem K, Patel PJ, Rajendram R, Balaskas K, Hamilton R, Sim DA, Keane PA.

Eye (Lond) (2021)

• Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2.

Yang L, Joo K, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Arno G, Pontikos N, Liu X, Nakamura N, Kurihara T, Tsubota K, Iwata T, Li H, Zou X, Wu S, Sun Z, Ahn SJ, Kim MS, Mun YS, Park KH, Robson AG, Miyake Y, Woo SJ, Sui R, Fujinami K, East Asia Inherited Retinal Disease Society Study Group.

Am J Ophthalmol (2021)

• Ultra-wide-field imaging assessment of small choroidal pigmented lesions using red and green colour channels.

Papastefanou VP, Al-Jamal RT, Ali ZC, Cohen VML, Gray J, Sagoo MS, Balaskas K.

Eye (Lond) (2021)

• Widefield optical coherence tomography angiography for early detection and objective evaluation of proliferative diabetic retinopathy.

Khalid H, Schwartz R, Nicholson L, Huemer J, El-Bradey MH, Sim DA, Patel PJ, Balaskas K, Hamilton RD, Keane PA, Rajendram R.

Br J Ophthalmol (2021)

• RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.

Fujinami K, Liu X, Ueno S, Mizota A, Shinoda K, Kuniyoshi K, Fujinami-Yokokawa Y, Yang L, Arno G, Pontikos N, Kameya S, Kominami T, Terasaki H, Sakuramoto H, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Yoshiake K, Iwata T, Tsunoda K, Japan Eye Genetics Consortium Study Group.

Am J Med Genet C Semin Med Genet (2020)

• Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.

de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ.

Am J Hum Genet (2020)

• The genetic landscape of crystallins in congenital cataract.

Berry V, Ionides A, Pontikos N, Georgiou M, Yu J, Ocaka LA, Moore AT, Quinlan RA, Michaelides M.

Orphanet J Rare Dis (2020)

• Structure-Function Analysis in Macular Drusen With Mesopic and Scotopic Microperimetry.

Montesano G, Ometto G, Higgins BE, Iester C, Balaskas K, Tufail A, Chakravarthy U, Hogg RE, Crabb DP.

Transl Vis Sci Technol (2020)

• Factors in Color Fundus Photographs That Can Be Used by Humans to Determine Sex of Individuals.

Dieck S, Ibarra M, Moghul I, Yeung MW, Pantel JT, Thiele S, Pfau M, Fleckenstein M, Pontikos N, Krawitz PM.

Transl Vis Sci Technol (2020)

• Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with <i>GUCY2D</i>-Associated Retinal Disorder.

Liu X, Fujinami K, Kuniyoshi K, Kondo M, Ueno S, Hayashi T, Mochizuki K, Kameya S, Yang L, Fujinami-Yokokawa Y, Arno G, Pontikos N, Sakuramoto H, Kominami T, Terasaki H, Katagiri S, Mizobuchi K, Nakamura N, Yoshitake K, Miyake Y, Li S, Kurihara T, Tsubota K, Iwata T, Tsunoda K, Japan Eye Genetics Consortium.

Transl Vis Sci Technol (2020)

• Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.

Fujinami K, Oishi A, Yang L, Arno G, Pontikos N, Yoshitake K, Fujinami-Yokokawa Y, Liu X, Hayashi T, Katagiri S, Mizobuchi K, Mizota A, Shinoda K, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Iwata T, Tsujikawa A, Tsunoda K, Japan Eye Genetics Consortium study group.

Am J Med Genet C Semin Med Genet (2020)

• Health Economic and Safety Considerations for Artificial Intelligence Applications in Diabetic Retinopathy Screening.

Xie Y, Gunasekeran DV, Balaskas K, Keane PA, Sim DA, Bachmann LM, Macrae C, Ting DSW.

Transl Vis Sci Technol (2020)

• Delivering personalized medicine in retinal care: from artificial intelligence algorithms to clinical application.

Jill Hopkins J, Keane PA, Balaskas K.

Curr Opin Ophthalmol (2020)

• Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

Bonelli R, Jackson V, Prasad A, Munro J, Heeren T, Pontikos N, Scheppke L, Friedlander M, Egan C, Allikmets R, Ansell B, Bahlo M, MacTel Consortium.

(2020)

• A Clinician's Guide to Artificial Intelligence: How to Critically Appraise Machine Learning Studies.

Faes L, Liu X, Wagner SK, Fu DJ, Balaskas K, Sim DA, Bachmann LM, Keane PA, Denniston AK.

Transl Vis Sci Technol (2020)

• Insights into Systemic Disease through Retinal Imaging-Based Oculomics.

Wagner SK, Fu DJ, Faes L, Liu X, Huemer J, Khalid H, Ferraz D, Korot E, Kelly C, Balaskas K, Denniston AK, Keane PA.

Transl Vis Sci Technol (2020)

• A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.

Tummala H, Walne AJ, Bewicke-Copley F, Ellison A, Pontikos N, Bridger MG, Rio-Machin A, Sidhu JK, Wang J, Hasle H, Fitzgibbon J, Vulliamy T, Dokal I.

Proc Natl Acad Sci U S A (2020)

• Macular Telangiectasia Type 2: Visual Acuity, Disease End Stage, and the MacTel Area: MacTel Project Report Number 8.

Heeren TFC, Chew EY, Clemons T, Fruttiger M, Balaskas K, Schwartz R, Egan CA, Charbel Issa P, MacTel Study Group.

Ophthalmology (2020)

• Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.

Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, Hayashi T, Ueno S, Mizota A, Shinoda K, Arno G, Pontikos N, Yang L, Liu X, Sakuramoto H, Katagiri S, Mizobuchi K, Kominami T, Terasaki H, Nakamura N, Kameya S, Yoshitake K, Miyake Y, Kurihara T, Tsubota K, Miyata H, Iwata T, Tsunoda K, Japan Eye Genetics Consortium.

Sci Rep (2020)

• Will AI Replace Ophthalmologists?

Korot E, Wagner SK, Faes L, Liu X, Huemer J, Ferraz D, Keane PA, Balaskas K.

Transl Vis Sci Technol (2020)

• Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.

Pontikos N, Arno G, Jurkute N, Schiff E, Ba-Abbad R, Malka S, Gimenez A, Georgiou M, Wright G, Armengol M, Knight H, Katz M, Moosajee M, Yu-Wai-Man P, Moore AT, Michaelides M, Webster AR, Mahroo OA.

Ophthalmology (2020)

• Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.

Berry V, Ionides A, Pontikos N, Moghul I, Moore AT, Quinlan RA, Michaelides M.

Genes (Basel) (2020)

• An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

Cipriani V, Pontikos N, Arno G, Sergouniotis PI, Lenassi E, Thawong P, Danis D, Michaelides M, Webster AR, Moore AT, Robinson PN, Jacobsen JOB, Smedley D.

Genes (Basel) (2020)

• Phenogenon: Gene to phenotype associations for rare genetic diseases.

Pontikos N, Murphy C, Moghul I, Arno G, Fujinami K, Fujinami Y, Sumodhee D, Downes S, Webster A, Yu J, UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium.

PLoS One (2020)

• Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.

Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K, JEGC study group.

Sci Rep (2020)

• A novel missense mutation in <i>LIM2</i> causing isolated autosomal dominant congenital cataract.

Berry V, Pontikos N, Dudakova L, Moore AT, Quinlan R, Liskova P, Michaelides M.

Ophthalmic Genet (2020)

• Comparison of true-colour wide-field confocal scanner imaging with standard fundus photography for diabetic retinopathy screening.

Olvera-Barrios A, Heeren TF, Balaskas K, Chambers R, Bolter L, Tufail A, Tufail A, Egan C, Anderson J.

Br J Ophthalmol (2020)

• The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N, Wang J, Tummala H, Al Seraihi AFH, Alnajar J, Bewicke-Copley F, Armes H, Barnett M, Bloor A, Bödör C, Bowen D, Fenaux P, Green A, Hallahan A, Hjorth-Hansen H, Hossain U, Killick S, Lawson S, Layton M, Male AM, Marsh J, Mehta P, Mous R, Nomdedéu JF, Owen C, Pavlu J, Payne EM, Protheroe RE, Preudhomme C, Pujol-Moix N, Renneville A, Russell N, Saggar A, Sciuccati G, Taussig D, Toze CL, Uyttebroeck A, Vandenberghe P, Schlegelberger B, Ripperger T, Steinemann D, Wu J, Mason J, Page P, Akiki S, Reay K, Cavenagh JD, Plagnol V, Caceres JF, Fitzgibbon J, Dokal I.

Nat Commun (2020)

• CUGC for posterior polymorphous corneal dystrophy (PPCD).

Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P.

Eur J Hum Genet (2020)

• Progression of Retinopathy Secondary to Maternally Inherited Diabetes and Deafness - Evaluation of Predicting Parameters.

Müller PL, Treis T, Pfau M, Esposti SD, Alsaedi A, Maloca P, Balaskas K, Webster A, Egan C, Tufail A.

Am J Ophthalmol (2020)

• Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy.

Wright GA, Georgiou M, Robson AG, Ali N, Kalhoro A, Holthaus SK, Pontikos N, Oluonye N, de Carvalho ER, Neveu MM, Weleber RG, Michaelides M.

Ophthalmol Retina (2020)

• Novel biomarker of sphericity and cylindricity indices in volume-rendering optical coherence tomography angiography in normal and diabetic eyes: a preliminary study.

Maloca PM, Spaide RF, de Carvalho ER, Studer HP, W Hasler P, Scholl HPN, Heeren TFC, Schottenhamml J, Balaskas K, Tufail A, Egan C, IOB study group.

Graefes Arch Clin Exp Ophthalmol (2020)

• ADDO: a comprehensive toolkit to detect, classify and visualize additive and non-additive quantitative trait loci.

Cui L, Yang B, Pontikos N, Mott R, Huang L.

Bioinformatics (2020)

• Comment on: Trends in Retina Specialist Imaging Utilization From 2012 to 2016 in the United States Medicare Fee-for-Service Population.

Pontikos N, Wagner SK, Balaskas K, Faes L, Kortuem K, Fasler K, Keane PA.

Am J Ophthalmol (2020)

• Objective Evaluation of Proliferative Diabetic Retinopathy Using OCT.

Schwartz R, Khalid H, Sivaprasad S, Nicholson L, Anikina E, Sullivan P, Patel PJ, Balaskas K, Keane PA.

Ophthalmol Retina (2020)

1. GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.

Bouzia Z, Georgiou M, Hull S, Robson AG, Fujinami K, Rotsos T, Pontikos N, Arno G, Webster AR, Hardcastle AJ, Fiorentino A, Michaelides M.

Am J Ophthalmol (2020)

• Moorfields AMD database report 2: fellow eye involvement with neovascular age-related macular degeneration.

Fasler K, Fu DJ, Moraes G, Wagner S, Gokhale E, Kortuem K, Chopra R, Faes L, Preston G, Pontikos N, Patel PJ, Tufail A, Tufail A, Lee AY, Balaskas K, Keane PA.

Br J Ophthalmol (2020)

• Anatomical and functional outcomes following switching from aflibercept to ranibizumab in neovascular age-related macular degeneration in Europe: SAFARI study.

Gale RP, Pearce I, Eter N, Ghanchi F, Holz FG, Schmitz-Valckenberg S, Balaskas K, Burton BJL, Downes SM, Eleftheriadis H, George S, Gilmour D, Hamilton R, Lotery AJ, Patel N, Prakash P, Santiago C, Thomas S, Varma D, Walters G, Williams M, Wolf A, Zakri RH, Igwe F, Ayan F.

Br J Ophthalmol (2020)

• Implementation of a cloud-based referral platform in ophthalmology: making telemedicine services a reality in eye care.

Kern C, Fu DJ, Kortuem K, Huemer J, Barker D, Davis A, Balaskas K, Keane PA, McKinnon T, Sim DA.

Br J Ophthalmol (2020)