Moorsfields Eye Hospital

Published Work Our peer-reviewed publications

See below for a list of our publications:
  1. 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)

  2. 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)

  3. 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)

  4. 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)

  5. 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)

  6. 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)

  7. 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)

  8. 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)

  9. 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)

  10. 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)

  11. 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)

  12. 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)

  13. 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)

  14. 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)

  15. 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)

    (Cited By: 1)

  16. 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)

  17. 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)

    (Cited By: 1)

  18. 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)

  19. 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)

  20. 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)

  21. 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)

  22. 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)

  23. 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)

    (Cited By: 1)

  24. 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)

  25. 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)

  26. 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)

    (Cited By: 6)

  27. 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)

  28. 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)

  29. 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)

  30. 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)

  31. 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)

  32. 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)

  33. 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)

    (Cited By: 1)

  34. 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)

    (Cited By: 14)

  35. 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)

    (Cited By: 3)

  36. 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)

    (Cited By: 23)

  37. 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)

    (Cited By: 7)

  38. 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)

  39. 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)

  40. 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)

  41. 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)

    (Cited By: 1)

  42. 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)

    (Cited By: 2)

  43. 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)

    (Cited By: 1)

  44. 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)

    (Cited By: 1)

  45. 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)

    (Cited By: 5)

  46. 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)

    (Cited By: 1)

  47. 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)

  48. 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)

    (Cited By: 1)

  49. 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)

    (Cited By: 1)

  50. 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)

  51. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

    100,000 Genomes Project Pilot Investigators, 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)

    (Cited By: 93)

  52. 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)

    (Cited By: 1)

  53. 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)

    (Cited By: 1)

  54. 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)

  55. 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)

    (Cited By: 2)

  56. 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)

  57. 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)

    (Cited By: 12)

  58. 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)

    (Cited By: 4)

  59. 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)

    (Cited By: 1)

  60. 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)

  61. 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)

  62. 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)

    (Cited By: 6)

  63. 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)

    (Cited By: 7)

  64. 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)

  65. 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)

  66. 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)

    (Cited By: 6)

  67. 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)

    (Cited By: 7)

  68. 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)

    (Cited By: 2)

  69. 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)

    (Cited By: 13)

  70. 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)

    (Cited By: 1)

  71. 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)

  72. 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)

    (Cited By: 3)

  73. 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)

  74. 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)

    (Cited By: 1)

  75. 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)

  76. 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)

    (Cited By: 9)

  77. 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)

    (Cited By: 1)

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

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

    (2021)

  79. 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)

    (Cited By: 3)

  80. 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)

    (Cited By: 5)

  81. 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)

  82. 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)

    (Cited By: 2)

  83. 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)

    (Cited By: 9)

  84. 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)

    (Cited By: 11)

  85. 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)

    (Cited By: 4)

  86. 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)

    (Cited By: 5)

  87. 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)

    (Cited By: 11)

  88. 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)

    (Cited By: 2)

  89. 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)

    (Cited By: 7)

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

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

    Ophthalmol Ther (2021)

    (Cited By: 1)

  91. 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)

    (Cited By: 6)

  92. Automated deep learning design for medical image classification by health-care professionals with no coding experience: a feasibility study.

    Faes L, Wagner SK, Fu DJ, Liu X, Korot E, Ledsam JR, Back T, Chopra R, Pontikos N, Kern C, Moraes G, Schmid MK, Sim D, Balaskas K, Bachmann LM, Denniston AK, Keane PA.

    Lancet Digit Health (2019)

    (Cited By: 36)

  93. A comparison of deep learning performance against health-care professionals in detecting diseases from medical imaging: a systematic review and meta-analysis.

    Liu X, Faes L, Kale AU, Wagner SK, Fu DJ, Bruynseels A, Mahendiran T, Moraes G, Shamdas M, Kern C, Ledsam JR, Schmid MK, Balaskas K, Topol EJ, Bachmann LM, Keane PA, Denniston AK.

    Lancet Digit Health (2019)

    (Cited By: 251)

  94. 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)

    (Cited By: 3)

  95. 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)

    (Cited By: 6)

  96. 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)

    (Cited By: 8)

  97. 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)

    (Cited By: 14)

  98. 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)

    (Cited By: 3)

  99. 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)

    (Cited By: 16)

  100. 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)

    (Cited By: 1)

  101. 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)

    (Cited By: 34)

  102. 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)

    (Cited By: 5)

  103. 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)

    (Cited By: 19)

  104. 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)

    (Cited By: 1)

  105. 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)

    (Cited By: 3)

  106. 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)

    (Cited By: 28)

  107. 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)

    (Cited By: 3)

  108. 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)

    (Cited By: 3)

  109. 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)

    (Cited By: 10)

  110. 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)

    (Cited By: 9)

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

    Jill Hopkins J, Keane PA, Balaskas K.

    Curr Opin Ophthalmol (2020)

    (Cited By: 4)

  112. 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)

  113. 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)

    (Cited By: 2)

  114. 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)

    (Cited By: 39)

  115. 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)

    (Cited By: 35)

  116. 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)

  117. 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)

    (Cited By: 1)

  118. 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)

    (Cited By: 9)

  119. 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)

    (Cited By: 5)

  120. 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)

    (Cited By: 5)

  121. 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)

    (Cited By: 57)

  122. 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)

    (Cited By: 2)

  123. 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)

    (Cited By: 8)

  124. 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)

  125. 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)

    (Cited By: 18)

  126. 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)

    (Cited By: 2)

  127. 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)

    (Cited By: 6)

  128. 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)

    (Cited By: 8)

  129. 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)

    (Cited By: 4)

  130. 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)

    (Cited By: 15)

  131. 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)

    (Cited By: 6)

  132. 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)

    (Cited By: 30)

  133. 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)

    (Cited By: 4)

  134. 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)

    (Cited By: 11)

  135. 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)

    (Cited By: 4)

  136. Associations with photoreceptor thickness measures in the UK Biobank.

    Chua SYL, Dhillon B, Aslam T, Balaskas K, Yang Q, Keane PA, Tufail A, Reisman C, Foster PJ, Patel PJ, UK Biobank Eye and Vision Consortium.

    Sci Rep (2019)

    (Cited By: 4)

  137. Deep Phenotyping of PDE6C-Associated Achromatopsia.

    Georgiou M, Robson AG, Singh N, Pontikos N, Kane T, Hirji N, Ripamonti C, Rotsos T, Dubra A, Kalitzeos A, Webster AR, Carroll J, Michaelides M.

    Invest Ophthalmol Vis Sci (2019)

    (Cited By: 23)

  138. 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)

  139. 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)

    (Cited By: 3)

  140. 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)

    (Cited By: 10)

  141. 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)

    (Cited By: 16)

  142. An open-source dataset of anti-VEGF therapy in diabetic macular oedema patients over four years & their visual outcomes

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

    (2019)

  143. 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)

    (Cited By: 12)

  144. Treatment decisions of UK hospital optometrists and ophthalmologists in patients with nAMD: a vignette study.

    Creer RC, Roberts SA, Aslam TM, Balaskas K, Chhabra R, Mahmood S, Turner GS, Harper RA.

    Ophthalmic Physiol Opt (2019)

    (Cited By: 1)

  145. Frequency and distribution of corneal astigmatism and keratometry features in adult life: Methodology and findings of the UK Biobank study.

    Pontikos N, Chua S, Foster PJ, Tuft SJ, Day AC, UK Biobank Eye and Vision Consortium.

    PLoS One (2019)

    (Cited By: 3)

  146. Validation of automated artificial intelligence segmentation of optical coherence tomography images.

    Maloca PM, Lee AY, de Carvalho ER, Okada M, Fasler K, Leung I, Hörmann B, Kaiser P, Suter S, Hasler PW, Zarranz-Ventura J, Egan C, Heeren TFC, Balaskas K, Tufail A, Scholl HPN.

    PLoS One (2019)

    (Cited By: 23)

  147. Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.

    Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, Sakuramoto H, Kominami T, Terasaki H, Yang L, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Miyake Y, Iwata T, Tsunoda K, Japan Eye Genetics Consortium.

    Invest Ophthalmol Vis Sci (2019)

    (Cited By: 6)

  148. 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)

    (Cited By: 12)

  149. 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)

    (Cited By: 36)

  150. Comparing diabetic retinopathy lesions in scanning laser ophthalmoscopy and colour fundus photography.

    Nghiem AZ, Nderitu P, Lukic M, Khatun M, Largan R, Kortuem K, Balaskas K, Sim D.

    Acta Ophthalmol (2019)

    (Cited By: 3)

  151. Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.

    Khawaja AP, Rojas Lopez KE, Hardcastle AJ, Hammond CJ, Liskova P, Davidson AE, Gore DM, Hafford Tear NJ, Pontikos N, Hayat S, Wareham N, Khaw KT, Tuft SJ, Foster PJ, Hysi PG.

    JAMA Ophthalmol (2019)

    (Cited By: 14)

  152. One- and two-year visual outcomes from the Moorfields age-related macular degeneration database: a retrospective cohort study and an open science resource.

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

    BMJ Open (2019)

    (Cited By: 11)

  153. 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)

    (Cited By: 1)

  154. Effect of total anti-VEGF treatment exposure on patterns of choroidal neovascularisation assessed by optical coherence tomography angiography in age-related macular degeneration: a retrospective case series.

    Faes L, Ali Z, Wagner S, Patel PJ, Fu DJ, Bachmann LM, Schmid MK, Waheed N, Keane PA, Balaskas K.

    BMJ Open Ophthalmol (2019)

    (Cited By: 2)

  155. ReLayer: a Free, Online Tool for Extracting Retinal Thickness From Cross-Platform OCT Images.

    Ometto G, Moghul I, Montesano G, Hunter A, Pontikos N, Jones PR, Keane PA, Liu X, Denniston AK, Crabb DP.

    Transl Vis Sci Technol (2019)

    (Cited By: 6)

  156. Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

    Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ.

    PLoS Genet (2019)

    (Cited By: 5)

  157. Frequency and Distribution of Corneal Astigmatism and Keratometry Features: Methodology and Findings of the UK Biobank Study

    Pontikos N, Chua S, Foster PJ, Tuft SJ, Day AC, UK Biobank Eye and Vision Consortium.

    (2019)

  158. Feasibility of Automated Deep Learning Design for Medical Image Classification by Healthcare Professionals with Limited Coding Experience

    Faes L, Wagner SK, Fu DJ, Liu X, Korot E, Ledsam JR, Back T, Chopra R, Pontikos N, Kern C, Moraes G, Schmid MK, Sim D, Balaskas K, Bachmann LM, Denniston AK, Keane PA.

    (2019)

  159. Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques.

    Fujinami-Yokokawa Y, Pontikos N, Yang L, Tsunoda K, Yoshitake K, Iwata T, Miyata H, Fujinami K, Japan Eye Genetics Consortium OBO.

    J Ophthalmol (2019)

    (Cited By: 10)

  160. Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.

    Hull S, Arno G, Ostergaard P, Pontikos N, Robson AG, Webster AR, Hogg CR, Wright GA, Henderson RHH, Martin CA, Jackson AP, Mansour S, Moore AT, Michaelides M.

    Am J Ophthalmol (2019)

    (Cited By: 7)

  161. Clinical Outcomes of a Hospital-Based Teleophthalmology Service: What Happens to Patients in a Virtual Clinic?

    Kern C, Kortuem K, Hamilton R, Fasolo S, Cai Y, Balaskas K, Keane P, Sim D.

    Ophthalmol Retina (2019)

    (Cited By: 17)

  162. The Moorfields AMD Database Report 2 - Fellow Eye Involvement with Neovascular Age-related Macular Degeneration

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

    (2019)

  163. Psychological and Psychosocial Interventions for Depression and Anxiety in Patients With Age-Related Macular Degeneration: A Systematic Review.

    Senra H, Macedo AF, Nunes N, Balaskas K, Aslam T, Costa E.

    Am J Geriatr Psychiatry (2019)

    (Cited By: 8)

  164. Impact of optical coherence tomography on diagnostic decision-making by UK community optometrists: a clinical vignette study.

    Jindal A, Ctori I, Fidalgo B, Dabasia P, Balaskas K, Lawrenson JG.

    Ophthalmic Physiol Opt (2019)

    (Cited By: 6)

  165. Test performance of optical coherence tomography angiography in detecting retinal diseases: a systematic review and meta-analysis.

    Faes L, Bodmer NS, Locher S, Keane PA, Balaskas K, Bachmann LM, Schlingemann RO, Schmid MK.

    Eye (Lond) (2019)

    (Cited By: 2)

  166. Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

    Taylor RL, Poulter JA, Downes SM, McKibbin M, Khan KN, Inglehearn CF, Webster AR, Hardcastle AJ, Michaelides M, Bishop PN, Clark SJ, Black GC, United Kingdom Inherited Retinal Dystrophy Consortium.

    Ophthalmology (2019)

    (Cited By: 11)

  167. The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.

    Dudakova L, Evans CJ, Pontikos N, Hafford-Tear NJ, Malinka F, Skalicka P, Horinek A, Munier FL, Voide N, Studeny P, Vanikova L, Kubena T, Rojas Lopez KE, Davidson AE, Hardcastle AJ, Tuft SJ, Liskova P.

    Exp Eye Res (2019)

    (Cited By: 4)

  168. Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

    Silva RS, Arno G, Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL, Dhaenens CM, Jensen H, Rosenberg T, van Heyningen V, Moore AT, Puech B, Webster AR.

    Hum Mutat (2019)

    (Cited By: 7)

  169. Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

    PGP-UK Consortium.

    BMC Med Genomics (2018)

    (Cited By: 12)

  170. Elevation in Cell Cycle and Protein Metabolism Gene Transcription in Inactive Colonic Tissue From Icelandic Patients With Ulcerative Colitis.

    Vinayaga-Pavan M, Frampton M, Pontikos N, Levine AP, Smith PJ, Jonasson JG, Björnsson ES, Segal AW, Smith AM.

    Inflamm Bowel Dis (2019)

    (Cited By: 3)

  171. One and Two Year Visual Outcomes from the Moorfields AMD Database - an Open Science Resource for the Study of Neovascular Age-related Macular Degeneration

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

    (2018)

  172. Initiation and maintenance of a Treat-and-Extend regimen for ranibizumab therapy in wet age-related macular degeneration: recommendations from the UK Retinal Outcomes Group.

    Amoaku W, Balaskas K, Cudrnak T, Downey L, Groppe M, Mahmood S, Mehta H, Mohamed Q, Mushtaq B, Severn P, Vardarinos A, Yang Y, Younis S.

    Clin Ophthalmol (2018)

    (Cited By: 11)

  173. Interdevice variability of central corneal thickness measurement.

    Maloca PM, Studer HP, Ambrósio R, Goldblum D, Rothenbuehler S, Barthelmes D, Zweifel S, Scholl HPN, Balaskas K, Tufail A, Hasler PW.

    PLoS One (2018)

    (Cited By: 5)

  174. Novel homozygous splicing mutations in <i>ARL2BP</i> cause autosomal recessive retinitis pigmentosa.

    Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ, Raymond FL, Cheetham ME, Webster AR, Downes SM, Hardcastle AJ, NIHR-BioResource Rare Diseases Consortium, U.K. Inherited Retinal Dystrophy Consortium.

    Mol Vis (2018)

    (Cited By: 6)

  175. Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease.

    Schiff ER, Frampton M, Ben-Yosef N, Avila BE, Semplici F, Pontikos N, Bloom SL, McCartney SA, Vega R, Lovat LB, Wood E, Hart A, Israeli E, Crespi D, Furman MA, Mann S, Murray CD, Segal AW, Levine AP.

    Hum Genet (2018)

    (Cited By: 5)

  176. Swept-source optical coherence tomography angiography features of sub-retinal fibrosis in neovascular age-related macular degeneration.

    Balaskas K, Ali ZC, Saddik T, Gemenetzi M, Patel P, Aslam TM.

    Clin Exp Ophthalmol (2019)

  177. Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.

    Tummala H, Collopy LC, Walne AJ, Ellison A, Cardoso S, Aksu T, Yarali N, Aslan D, Fikret Akata R, Teo J, Songyang Z, Pontikos N, Fitzgibbon J, Tomita K, Vulliamy T, Dokal I.

    Blood (2018)

    (Cited By: 7)

  178. Safety and Feasibility of a Novel Sparse Optical Coherence Tomography Device for Patient-Delivered Retina Home Monitoring.

    Maloca P, Hasler PW, Barthelmes D, Arnold P, Matthias M, Scholl HPN, Gerding H, Garweg J, Heeren T, Balaskas K, de Carvalho JER, Egan C, Tufail A, Zweifel SA.

    Transl Vis Sci Technol (2018)

    (Cited By: 17)

  179. High-Performance Virtual Reality Volume Rendering of Original Optical Coherence Tomography Point-Cloud Data Enhanced With Real-Time Ray Casting.

    Maloca PM, de Carvalho JER, Heeren T, Hasler PW, Mushtaq F, Mon-Williams M, Scholl HPN, Balaskas K, Egan C, Tufail A, Witthauer L, Cattin PC.

    Transl Vis Sci Technol (2018)

    (Cited By: 9)

  180. Phenogenon: Gene to Phenotype Associations for Rare Genetic Diseases

    Murphy C, Moghul I, Pontikos N, Yu J, Phenopolis consortium, UK Inherited Retinal Dystrophy consortium, UCLex consortium.

    (2018)

  181. Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic <i>ERCC6L2</i> variants.

    Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I, Sidhu JK, Rajeeve V, Rio-Machin A, Seraihi AA, Duncombe AS, Jenner M, Smith OP, Enright H, Norton A, Aksu T, Özbek NY, Pontikos N, Cutillas P, Dokal I, Vulliamy T.

    Proc Natl Acad Sci U S A (2018)

    (Cited By: 13)

  182. Seqfam: A python package for analysis of Next Generation Sequencing DNA data in families

    Frampton M, Schiff ER, Pontikos N, Segal AW, Levine AP.

    (2018)

  183. Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

    Pontikos N, Yu J, Blanco-Kelly F, Vulliamy T, Wong TL, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JO, Clark T, Gregory DS, Nemeth A, Halford S, Downes S, Black GC, Webster AR, Hardcastle A, Plagnol V.

    (2016)

  184. Insights into the genetic epidemiology of Crohn’s and rare diseases in the Ashkenazi Jewish population

    Rivas MA, Koskela J, Huang H, Stevens C, Avila BE, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Karczewski KJ, Minikel EV, Petersen B, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J, Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Pirinen M, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DP, Daly MJ, NIDDK IBD Genetics consortium, T2D-GENES consortium.

    (2016)

  185. Dissection of a complex disease susceptibility region using a Bayesian stochastic search approach to fine mapping

    Wallace C, Cutler AJ, Pontikos N, Pekalski ML, Burren OS, Cooper JD, Rubio Garcia A, Ferreira RC, Guo H, Walker NM, Smyth DJ, Rich SS, Onengut-Gumuscu S, Sawcer SS, Ban M, Richardson S, Todd J, Wicker L.

    (2015)

  186. Pheno4J: a gene to phenotype graph database

    Mughal S, Moghul I, Yu J, Clark T, Gregory DS, Pontikos N.

    (2017)

  187. Duplication events downstream of<i>IRX1</i>cause North Carolina macular dystrophy at the MCDR3 locus

    Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT.

    (2017)

  188. The human oral microbiome is shaped by shared environment rather than genetics: evidence from a large family of closely-related individuals

    Shaw L, Ribeiro ALR, Levine AP, Pontikos N, Balloux F, Segal AW, Roberts AP, Smith AM.

    (2017)

  189. PGP-UK: a research and citizen science hybrid project in support of personalized medicine

    PGP-UK Consortium, Beck S, Berner AM, Bignell G, Bond M, Callanan MJ, Chervova O, Conde L, Corpas M, Ecker S, Elliott HR, Fioramonti SA, Flanagan AM, Gaentzsch R, Graham D, Gribbin D, Guerra-Assunção JA, Hamoudi R, Harding V, Harrison PL, Herrero J, Hofmann J, Jones E, Khan S, Kaye J, Kerr P, Libertini E, McCormack L, Moghul I, Pontikos N, Rajanayagam S, Rana K, Semega-Janneh M, Smith CP, Strom L, Umur S, Webster AP, Wint K, Wood JN.

    (2018)

    (Cited By: 1)

  190. Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.

    Berry V, Ionides ACW, Pontikos N, Moghul I, Moore AT, Cheetham ME, Michaelides M.

    Eye (Lond) (2018)

    (Cited By: 2)

  191. Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

    Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ.

    PLoS Genet (2018)

    (Cited By: 29)

  192. Features of choroidal naevi on swept source optical coherence tomography angiography and structural reverse flow optical coherence tomography.

    Ali ZC, Gray J, Balaskas K.

    Graefes Arch Clin Exp Ophthalmol (2018)

    (Cited By: 7)

  193. Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

    Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ.

    Am J Hum Genet (2018)

    (Cited By: 22)

  194. Reply.

    Aslam TM, Mahmood S, Ali ZC, Ahmad NA, Thorell MR, Balaskas K.

    Am J Ophthalmol (2018)

  195. Functional variants in the <i>LRRK2</i> gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

    Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, Ruane D, Gettler K, Chen E, Li D, Schiff ER, Pontikos N, Barzilai N, Brant SR, Bressman S, Cheifetz AS, Clark LN, Daly MJ, Desnick RJ, Duerr RH, Katz S, Lencz T, Myers RH, Ostrer H, Ozelius L, Payami H, Peter Y, Rioux JD, Segal AW, Scott WK, Silverberg MS, Vance JM, Ubarretxena-Belandia I, Foroud T, Atzmon G, Pe'er I, Ioannou Y, McGovern DPB, Yue Z, Schadt EE, Cho JH, Peter I.

    Sci Transl Med (2018)

    (Cited By: 127)

  196. Implementation of medical retina virtual clinics in a tertiary eye care referral centre.

    Kortuem K, Fasler K, Charnley A, Khambati H, Fasolo S, Katz M, Balaskas K, Rajendram R, Hamilton R, Keane PA, Sim DA.

    Br J Ophthalmol (2018)

    (Cited By: 29)

  197. A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.

    Berry V, Pontikos N, Moore A, Ionides ACW, Plagnol V, Cheetham ME, Michaelides M.

    Eye (Lond) (2018)

    (Cited By: 12)

  198. Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

    Dudakova L, Cheong SS, Merjava SR, Skalicka P, Michalickova M, Palos M, Mahelkova G, Krizova D, Hlozanek M, Trkova M, Chojnowski JL, Hrdlickova E, Pontikos N, Plagnol V, Veselá V, Jirsova K, Hardcastle AJ, Filipec M, Lauderdale JD, Liskova P.

    Stem Cell Rev Rep (2018)

    (Cited By: 1)

  199. Swept-Source Optical Coherence Tomography Angiography Findings in Torpedo Maculopathy.

    Ali Z, Shields CL, Jasani K, Aslam TM, Balaskas K.

    Ophthalmic Surg Lasers Imaging Retina (2017)

    (Cited By: 3)

  200. Use of a Neural Net to Model the Impact of Optical Coherence Tomography Abnormalities on Vision in Age-related Macular Degeneration.

    Aslam TM, Zaki HR, Mahmood S, Ali ZC, Ahmad NA, Thorell MR, Balaskas K.

    Am J Ophthalmol (2018)

    (Cited By: 15)

  201. A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.

    Berry V, Pontikos N, Albarca-Aguilera M, Plagnol V, Massouras A, Prescott D, Moore AT, Arno G, Cheetham ME, Michaelides M.

    Ophthalmic Genet (2018)

    (Cited By: 7)

  202. Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

    Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ, 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium.

    Hum Mutat (2018)

    (Cited By: 11)

  203. The Human Salivary Microbiome Is Shaped by Shared Environment Rather than Genetics: Evidence from a Large Family of Closely Related Individuals.

    Shaw L, Ribeiro ALR, Levine AP, Pontikos N, Balloux F, Segal AW, Roberts AP, Smith AM.

    mBio (2017)

    (Cited By: 45)

  204. Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

    Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT.

    Sci Rep (2017)

    (Cited By: 11)

  205. 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.

    Cipriani V, Kalhoro A, Arno G, Silva RS, Pontikos N, Puech V, McClements ME, Hunt DM, van Heyningen V, Michaelides M, Webster AR, Moore AT, Puech B.

    Ophthalmic Genet (2017)

    (Cited By: 1)

  206. Pheno4J: a gene to phenotype graph database.

    Mughal S, Moghul I, Yu J, UKIRDC, Clark T, Gregory DS, Pontikos N.

    Bioinformatics (2017)

    (Cited By: 4)

  207. Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.

    Cardoso SR, Ellison ACM, Walne AJ, Cassiman D, Raghavan M, Kishore B, Ancliff P, Rodríguez-Vigil C, Dobbels B, Rio-Machin A, Al Seraihi AFH, Pontikos N, Tummala H, Vulliamy T, Dokal I.

    Haematologica (2017)

    (Cited By: 11)

  208. Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

    Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JOB, Clark T, Gregory DS, Nemeth AM, Halford S, Inglehearn CF, Downes S, Black GC, Webster AR, Hardcastle AJ, UKIRDC, Plagnol V.

    Bioinformatics (2017)

    (Cited By: 25)

  209. Experience of Anti-VEGF Treatment and Clinical Levels of Depression and Anxiety in Patients With Wet Age-Related Macular Degeneration.

    Senra H, Balaskas K, Mahmoodi N, Aslam T.

    Am J Ophthalmol (2017)

    (Cited By: 34)

  210. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

    Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P, UK Inherited Retinal Dystrophy Consortium, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF.

    Am J Hum Genet (2017)

    (Cited By: 40)

  211. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

    Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC, UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project.

    JAMA Ophthalmol (2017)

    (Cited By: 23)

  212. The Human Phenotype Ontology in 2017.

    Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.

    Nucleic Acids Res (2017)

    (Cited By: 365)

  213. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

    Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE, UKIRDC, Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R.

    Am J Hum Genet (2016)

    (Cited By: 69)

  214. Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

    Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ.

    Am J Hum Genet (2016)

    (Cited By: 17)

  215. QUANTITATIVE ANALYSIS OF PIGMENT EPITHELIAL DETACHMENT RESPONSE TO DIFFERENT ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR AGENTS IN WET AGE-RELATED MACULAR DEGENERATION.

    Balaskas K, Karampelas M, Horani M, Hotu O, Keane P, Aslam T.

    Retina (2017)

    (Cited By: 6)

  216. A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.

    Chuang LS, Villaverde N, Hui KY, Mortha A, Rahman A, Levine AP, Haritunians T, Evelyn Ng SM, Zhang W, Hsu NY, Facey JA, Luong T, Fernandez-Hernandez H, Li D, Rivas M, Schiff ER, Gusev A, Schumm LP, Bowen BM, Sharma Y, Ning K, Remark R, Gnjatic S, Legnani P, George J, Sands BE, Stempak JM, Datta LW, Lipka S, Katz S, Cheifetz AS, Barzilai N, Pontikos N, Abraham C, Dubinsky MJ, Targan S, Taylor K, Rotter JI, Scherl EJ, Desnick RJ, Abreu MT, Zhao H, Atzmon G, Pe'er I, Kugathasan S, Hakonarson H, McCauley JL, Lencz T, Darvasi A, Plagnol V, Silverberg MS, Muise AM, Brant SR, Daly MJ, Segal AW, Duerr RH, Merad M, McGovern DP, Peter I, Cho JH.

    Gastroenterology (2016)

    (Cited By: 37)

  217. Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families.

    Levine AP, Pontikos N, Schiff ER, Jostins L, Speed D, NIDDK Inflammatory Bowel Disease Genetics Consortium, Lovat LB, Barrett JC, Grasberger H, Plagnol V, Segal AW.

    Gastroenterology (2016)

    (Cited By: 34)

  218. Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

    Arno G, Holder GE, Chakarova C, Kohl S, Pontikos N, Fiorentino A, Plagnol V, Cheetham ME, Hardcastle AJ, Webster AR, Michaelides M, UK Inherited Retinal Disease Consortium.

    JAMA Ophthalmol (2016)

    (Cited By: 14)

  219. Psychological impact of anti-VEGF treatments for wet macular degeneration-a review.

    Senra H, Ali Z, Balaskas K, Aslam T.

    Graefes Arch Clin Exp Ophthalmol (2016)

    (Cited By: 27)

  220. A cross-sectional study of submacular thickening in intermediate uveitis and determination of treatment threshold.

    Simonazzi B, Balaskas K, Guex-Crosier Y.

    BMC Ophthalmol (2016)

  221. Diagnostic and Therapeutic Challenges.

    Pastor-Idoate S, Heimann H, Keane PA, Balaskas K, Lujan BJ.

    Retina (2016)

  222. Standardizing Flow Cytometry Immunophenotyping Analysis from the Human ImmunoPhenotyping Consortium.

    Finak G, Langweiler M, Jaimes M, Malek M, Taghiyar J, Korin Y, Raddassi K, Devine L, Obermoser G, Pekalski ML, Pontikos N, Diaz A, Heck S, Villanova F, Terrazzini N, Kern F, Qian Y, Stanton R, Wang K, Brandes A, Ramey J, Aghaeepour N, Mosmann T, Scheuermann RH, Reed E, Palucka K, Pascual V, Blomberg BB, Nestle F, Nussenblatt RB, Brinkman RR, Gottardo R, Maecker H, McCoy JP.

    Sci Rep (2016)

    (Cited By: 128)

  223. Patient perceptions and experiences of stereotactic radiotherapy for wet age-related macular degeneration.

    Senra H, Joseph S, Balaskas K, Horani M, Aslam T.

    Eur J Ophthalmol (2016)

    (Cited By: 1)

  224. Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.

    Davidson AE, Liskova P, Evans CJ, Dudakova L, Nosková L, Pontikos N, Hartmannová H, Hodaňová K, Stránecký V, Kozmík Z, Levis HJ, Idigo N, Sasai N, Maher GJ, Bellingham J, Veli N, Ebenezer ND, Cheetham ME, Daniels JT, Thaung CM, Jirsova K, Plagnol V, Filipec M, Kmoch S, Tuft SJ, Hardcastle AJ.

    Am J Hum Genet (2016)

    (Cited By: 34)

  225. Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.

    Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C, Uk Inherited Retinal Disease Consortium, Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR.

    Invest Ophthalmol Vis Sci (2015)

    (Cited By: 7)

  226. The Novel Evidenced Assessment of Tortuosity system: interobserver reliability and agreement with clinical assessment.

    Balaskas K, Tiew S, Czanner G, Tan AL, Ashworth J, Biswas S, Aslam T.

    Acta Ophthalmol (2016)

  227. Automated Analysis of Vitreous Inflammation Using Spectral-Domain Optical Coherence Tomography.

    Keane PA, Balaskas K, Sim DA, Aman K, Denniston AK, Aslam T, And For The Equator Study Group.

    Transl Vis Sci Technol (2015)

    (Cited By: 18)

  228. Management of choroidal naevomelanocytic lesions: feasibility and safety of a virtual clinic model.

    Balaskas K, Gray J, Blows P, Rajai A, Flaye D, Peto T, Sagoo MS.

    Br J Ophthalmol (2016)

    (Cited By: 9)

  229. Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping.

    Wallace C, Cutler AJ, Pontikos N, Pekalski ML, Burren OS, Cooper JD, García AR, Ferreira RC, Guo H, Walker NM, Smyth DJ, Rich SS, Onengut-Gumuscu S, Sawcer SJ, Ban M, Richardson S, Todd JA, Wicker LS.

    PLoS Genet (2015)

    (Cited By: 34)

  230. Proton pump inhibitors and histamine 2 blockers are associated with improved overall survival in patients with head and neck squamous carcinoma.

    Papagerakis S, Bellile E, Peterson LA, Pliakas M, Balaskas K, Selman S, Hanauer D, Taylor JM, Duffy S, Wolf G.

    Cancer Prev Res (Phila) (2014)

    (Cited By: 36)

  231. Associations between autofluorescence abnormalities and visual acuity in idiopathic macular telangiectasia type 2: MacTel project report number 5.

    Balaskas K, Leung I, Sallo FB, Clemons TE, Bird AC, Peto T.

    Retina (2014)

    (Cited By: 4)

  232. A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples.

    Pontikos N, Smyth DJ, Schuilenburg H, Howson JM, Walker NM, Burren OS, Guo H, Onengut-Gumuscu S, Chen WM, Concannon P, Rich SS, Jayaraman J, Jiang W, Traherne JA, Trowsdale J, Todd JA, Wallace C.

    BMC Genomics (2014)

    (Cited By: 11)

  233. Comparison of mathematical morphological descriptors of hyporeflective cavities in optical coherence tomography of patients with macular telangiectasia compared to patients with diabetic maculopathy.

    Aslam T, Tan SZ, D'Souza Y, Balaskas K, Mahmood S.

    Acta Ophthalmol (2014)

    (Cited By: 1)

  234. Repeatability of visual function measures in age-related macular degeneration.

    Aslam T, Mahmood S, Balaskas K, Patton N, Tanawade RG, Tan SZ, Roberts SA, Parkes J, Bishop PN.

    Graefes Arch Clin Exp Ophthalmol (2014)

    (Cited By: 4)

  235. Is indocyanine green angiography useful for the diagnosis of macular telangiectasia type 2?

    Niskopoulou M, Balaskas K, Leung I, Sallo FB, Clemons TE, Bird AC, Peto T, MacTel Study group.

    Br J Ophthalmol (2013)

    (Cited By: 3)

  236. Experimental uveitis can be maintained in rabbits for a period of six weeks after a safe sensitization method.

    Eperon S, Balaskas K, Vaudaux J, Guex-Crosier Y.

    Curr Eye Res (2013)

    (Cited By: 2)

  237. A new drug delivery system inhibits uveitis in an animal model after cataract surgery.

    Eperon S, Rodriguez-Aller M, Balaskas K, Gurny R, Guex-Crosier Y.

    Int J Pharm (2013)

    (Cited By: 11)

  238. Differences in spectral absorption properties between active neovascular macular degeneration and mild age related maculopathy.

    Balaskas K, Nourrit V, Dinsdale M, Henson DB, Aslam T.

    Br J Ophthalmol (2013)

    (Cited By: 3)

  239. Ranibizumab for the management of Sorsby fundus dystrophy.

    Balaskas K, Hovan M, Mahmood S, Bishop P.

    Eye (Lond) (2013)

    (Cited By: 11)

  240. Long-term ranibizumab treatment for choroidal neovascularization secondary to serpiginous choroiditis.

    Balaskas K, Ur Rehman S, D'Souza Y.

    Can J Ophthalmol (2012)

    (Cited By: 6)

  241. Peripapillary choroidal neovascularisation in the context of ocular syphilis is sensitive to combination antibiotic and corticosteroid treatment.

    Balaskas K, Spencer S, D'Souza Y.

    Int Ophthalmol (2013)

    (Cited By: 5)

  242. Infliximab therapy for a severe case of IgG4-related ocular adnexal disorder recalcitrant to corticosteroid treatment.

    Balaskas K, de Leval L, La Corte R, Zografos L, Guex-Crosier Y.

    Ocul Immunol Inflamm (2012)

    (Cited By: 7)

  243. Retinal thickening in HLA-B27-associated acute anterior uveitis: evolution with time and association with severity of inflammatory activity.

    Balaskas K, Ballabeni P, Guex-Crosier Y.

    Invest Ophthalmol Vis Sci (2012)

    (Cited By: 10)

  244. Azithromycin versus Sulfadiazine and Pyrimethamine for non-vision-threatening toxoplasmic retinochoroiditis: a pilot study.

    Balaskas K, Vaudaux J, Boillat-Blanco N, Guex-Crosier Y.

    Med Sci Monit (2012)

    (Cited By: 10)

  245. [Peripheral occlusive retinal vasculopathy in a woman with combined preeclampsia and alpha thalassemia minor].

    Guber I, Balaskas K, Guex-Crosier Y.

    Klin Monbl Augenheilkd (2012)

  246. Indocyanine-green angiography findings in Susac's syndrome.

    Balaskas K, Guex-Crosier Y, Borruat FX.

    Klin Monbl Augenheilkd (2012)

    (Cited By: 3)

  247. Recurrent paroxysmal fever revealing ocular syphilis.

    Balaskas K, Mokrim R, Guex-Crosier Y.

    Klin Monbl Augenheilkd (2012)

  248. Ocular involvement in idiopathic hypereosinophilic syndrome: a rare finding.

    Balaskas K, Wyss P, Guex-Crosier Y.

    Klin Monbl Augenheilkd (2012)

    (Cited By: 1)

  249. Fluorescein and indocyanine-green angiography in ocular syphilis: an exploratory study.

    Balaskas K, Sergentanis TN, Giulieri S, Guex-Crosier Y.

    Graefes Arch Clin Exp Ophthalmol (2012)

    (Cited By: 6)

  250. Reorganizing the protein space at the Universal Protein Resource (UniProt).

    UniProt Consortium.

    Nucleic Acids Res (2012)

    (Cited By: 838)

  251. Retinal manifestations in a patient with xanthoma disseminatum (non-langerhans cell histiocytosis).

    Konstantinidis L, Laffitte E, Wasem YM, Balaskas K, Guex-Crosier Y.

    Klin Monbl Augenheilkd (2011)

  252. G-6-PD deficiency as the cause of isolated peripheral retinal ischemia.

    Balaskas K, Wimmersberger Y, Guex-Crosier Y.

    Klin Monbl Augenheilkd (2011)

  253. Immune recovery uveitis occurring after chemotherapy and ocular CMV infection in chronic lymphatic leukaemia.

    Wimmersberger Y, Balaskas K, Gander M, Pournaras JA, Guex-Crosier Y.

    Klin Monbl Augenheilkd (2011)

    (Cited By: 1)

  254. Contribution of Serology in the Diagnosis of Cogan's Syndrome.

    Balaskas K, Majo F, Ikonomidis C, Guex-Crosier Y.

    Klin Monbl Augenheilkd (2011)

  255. Indocyanine green angiography findings in acute retinal necrosis syndrome.

    Bissig A, Balaskas K, Vaudaux JD, Guex-Crosier Y.

    Klin Monbl Augenheilkd (2011)

    (Cited By: 3)

  256. UniProt Knowledgebase: a hub of integrated protein data.

    Magrane M, UniProt Consortium.

    Database (Oxford) (2011)

    (Cited By: 742)

  257. Analysis of significant factors influencing visual acuity in ocular syphilis.

    Balaskas K, Sergentanis TN, Giulieri S, Guex-Crosier Y.

    Br J Ophthalmol (2011)

    (Cited By: 19)

  258. Ongoing and future developments at the Universal Protein Resource.

    UniProt Consortium.

    Nucleic Acids Res (2011)

    (Cited By: 449)

  259. [Branch retinal artery occlusion as the sole ocular manifestation of Takayasu arteritis].

    Balaskas K, Potamitou D, Spastri A.

    J Fr Ophtalmol (2010)

    (Cited By: 2)

  260. Endogenous endophthalmitis secondary to bacterial meningitis from Neisseria Meningitidis: a case report and review of the literature.

    Balaskas K, Potamitou D.

    Cases J (2009)

    (Cited By: 5)