Published Work

Our peer-reviewed publications

  1. Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED Network.

    Wong WM, Tham YC, Ayton LN, Britten-Jones AC, Edwards TL, Grigg J, Simunovic MP, Chen FK, Jin ZB, Shen RJ, Sui R, Yang L, Zhao C, Chen H, Li S, Ding X, Bhende M, Raman R, Sen P, Poornachandra B, Chia V, Manurung F, Sasongko MB, Ikeda H, Fujinami K, Woo SJ, Kim SJ, Bastion MC, Kamalden AT, Lott PP, Fong K, Shunmugam M, Lim A, Thapa R, Ibañez BMB, Koh A, Holder GE, Su X, Chan CM, Fenner BJ, Laude A, Ngo WK, Chen TC, Wang NK, Kang EY, Surawatsatien N, Pisuchpen P, Sujirakul T, Wongchaisuwat N, Apivatthakakul A, Kumaramanickavel G, Leroy B, Michaelides M, Pontikos N, Cheng CY, Pang CP, Chen LJ, Chan HW.

    Asia Pac J Ophthalmol (Phila) (2024)

  2. Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity

    Liu S, Sadan AN, Bhattacharyya N, Zarouchlioti C, Szabo A, Costa MA, Hafford-Tear NJ, Kladny AS, Dudakova L, Ciosi M, Moghul I, Wilkins MR, Allan B, Skalicka P, Hardcastle AJ, Pontikos N, Bunce C, Monckton DG, Muthusamy K, Liskova P, Tuft SJ, Davidson AE.

    (2024)

  3. Digital health and wearable devices for retinal disease monitoring.

    Daich Varela M, Sanders Villa A, Pontikos N, Crossland MD, Michaelides M.

    Graefes Arch Clin Exp Ophthalmol (2024)

  4. The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

    Tummala H, Walne AJ, Badat M, Patel M, Walne AM, Alnajar J, Chow CC, Albursan I, Frost JM, Ballard D, Killick S, Szitányi P, Kelly AM, Raghavan M, Powell C, Raymakers R, Todd T, Mantadakis E, Polychronopoulou S, Pontikos N, Liao T, Madapura P, Hossain U, Vulliamy T, Dokal I.

    EMBO Mol Med (2024)

    (Cited By: 1)

  5. Retinograd-AI: An Open-source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Dystrophies

    Naik G, Al-Khuzaei S, Moghul I, de Guimaraes TAC, Sen S, Daich Varela M, Liu Y, Bagga P, Fu DJ, Moosajee M, Madhusudhan S, Webster A, De Silva S, Patel PJ, Mahroo O, Downes SM, Michaelides M, Balaskas K, Pontikos N, Woof W.

    (2024)

  6. Retinal morphology across the menstrual cycle: insights from the UK Biobank

    Reis APR, Ioannidou E, Wagner S, Struyven R, Sun Z, Foster P, Khawaja AP, Petzold A, Sivaprasad S, Pontikos N, Keane P, Balaskas K, Greco E, Iliodromiti S, Patel PJ.

    (2024)

  7. A novel frameshift variant in BCOR causes congenital nuclear cataract.

    Berry V, Ponnekanti MB, Pontikos N, Quinlan RA, Michaelides M.

    Ophthalmic Genet (2024)

  8. 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 (2024)

  9. The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population.

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

    Ophthalmol Glaucoma (2024)

  10. Pegcetacoplan Treatment and Consensus Features of Geographic Atrophy Over 24 Months.

    Fu DJ, Bagga P, Naik G, Glinton S, Faes L, Liefers B, Lima R, Wignall G, Keane PA, Ioannidou E, Ribeiro Reis AP, McKeown A, Scheibler L, Patel PJ, Moghul I, Pontikos N, Balaskas K.

    JAMA Ophthalmol (2024)

    (Cited By: 2)

  11. Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.

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

    PLoS Genet (2024)

    (Cited By: 1)

  12. Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies.

    Mishra AV, Vermeirsch S, Lin S, Martin-Gutierrez MP, Simcoe M, Pontikos N, Schiff E, de Guimarães TAC, Hysi PG, Michaelides M, Arno G, Webster AR, Mahroo OA.

    Invest Ophthalmol Vis Sci (2024)

    (Cited By: 1)

  13. Associations between unilateral amblyopia in childhood and cardiometabolic disorders in adult life: a cross-sectional and longitudinal analysis of the UK Biobank.

    Wagner SK, Bountziouka V, Hysi P, Rahi JS, UK Biobank Eye & Vision Consortium.

    EClinicalMedicine (2024)

  14. Convolutional neural network-based classification of glaucoma using optic radiation tissue properties.

    Kruper J, Richie-Halford A, Benson NC, Caffarra S, Owen J, Wu Y, Egan C, Lee AY, Lee CS, Yeatman JD, Rokem A, UK Biobank Eye and Vision Consortium.

    Commun Med (Lond) (2024)

    (Cited By: 4)

  15. Inhibitory KIRs decrease HLA class II-mediated protection in Type 1 Diabetes

    Bitria LM, Debebe BJ, Miners K, Ladell K, Kaur C, Traherne JA, Jiang W, Hadcocks L, McQuibban NA, Trowsdale J, Wong FS, Pontikos N, Niederalt C, Asquith B.

    (2024)

  16. Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom

    Woof W, de Guimarães TAC, Al-Khuzaei S, Daich Varela M, Sen S, Bagga P, Mendes B, Shah M, Burke P, Parry D, Lin S, Naik G, Ghoshal B, Liefers B, Fu DJ, Georgiou M, Nguyen Q, da Silva AS, Liu Y, Fujinami-Yokokawa Y, Sumodhee D, Patel P, Furman J, Moghul I, Moosajee M, Sallum J, De Silva SR, Lorenz B, Holz F, Fujinami K, Webster AR, Mahroo O, Downes SM, Madhusudhan S, Balaskas K, Michaelides M, Pontikos N.

    (2024)

  17. Relationship Between Oral Health and Glaucoma Traits in the United Kingdom.

    Lee RH, Kang JH, Wiggs JL, Wagner SK, Khawaja AP, Pasquale LR, Modifiable Risk Factors for Glaucoma Collaboration, the UK Biobank Eye and Vision Consortium, and the International Glaucoma Genetics Consortium.

    J Glaucoma (2024)

  18. Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.

    Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium.

    J Med Genet (2024)

  19. A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds.

    Li JO, Maile HP, Bunce C, Kandakji L, Leucci MT, Allan BD, Tuft SJ, Pontikos N, Gore DM.

    Eye (Lond) (2024)

  20. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.

    Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M.

    Prog Retin Eye Res (2024)

    (Cited By: 9)

  21. Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.

    Fujinami-Yokokawa Y, Joo K, Liu X, Tsunoda K, Kondo M, Ahn SJ, Robson AG, Naka I, Ohashi J, Li H, Yang L, Arno G, Pontikos N, Park KH, Michaelides M, Tachimori H, Miyata H, Sui R, Woo SJ, Fujinami K, East Asia Inherited Retinal Disease Society Study Group*.

    Invest Ophthalmol Vis Sci (2024)

    (Cited By: 1)

  22. Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.

    Lin S, Vermeirsch S, Pontikos N, Martin-Gutierrez MP, Daich Varela M, Malka S, Schiff E, Knight H, Wright G, Jurkute N, Simcoe MJ, Yu-Wai-Man P, Moosajee M, Michaelides M, Mahroo OA, Webster AR, Arno G.

    Ophthalmol Retina (2024)

    (Cited By: 5)

  23. RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.

    Georgiou M, Robson AG, Uwaydat SH, Ji MH, Shakarchi AF, Pontikos N, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M.

    Am J Ophthalmol (2024)

    (Cited By: 1)

  24. KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.

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

    Br J Ophthalmol (2024)

  25. A nationwide study of 331 rare diseases among 58 million individuals: prevalence, demographics, and COVID-19 outcomes

    Thygesen JH, Zhang H, Issa H, Wu J, Hama T, Phiho Gomes AC, Groza T, Khalid S, Lumbers T, Hocaoglu M, Khunti K, Priedon R, Banerjee A, Pontikos N, Tomlinson C, Torralbo A, Taylor P, Sudlow C, Denaxas S, Hemingway H, Wu H.

    (2023)

  26. RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.

    Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M.

    Am J Ophthalmol (2024)

  27. A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds

    Tuft S, Li J, Maile H, Bunce C, Kandakji L, Leucci M, Allan B, Pontikos N, Gore D.

    (2023)

  28. Evaluating the Effects of C3 Inhibition on Geographic Atrophy Progression from Deep-Learning OCT Quantification: A Split-Person Study.

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

    Ophthalmol Ther (2023)

  29. Towards mitigating health inequity via machine learning: a nationwide cohort study to develop and validate ethnicity-specific models for prediction of cardiovascular disease risk in COVID-19 patients

    Allery F, Pineda-Moncusí M, Tomlinson C, Pontikos N, Thygesen JH, Khalid S, the CVD-COVID-UK/COVID-IMPACT Consortium.

    (2023)

  30. A foundation model for generalizable disease detection from retinal images.

    Zhou Y, Chia MA, Wagner SK, Ayhan MS, Williamson DJ, Struyven RR, Liu T, Xu M, Lozano MG, Woodward-Court P, Kihara Y, UK Biobank Eye & Vision Consortium, Altmann A, Lee AY, Topol EJ, Denniston AK, Alexander DC, Keane PA.

    Nature (2023)

    (Cited By: 62)

  31. Calcium Channel Blocker Use and Associated Glaucoma and Related Traits Among UK Biobank Participants.

    Kastner A, Stuart KV, Montesano G, De Moraes CG, Kang JH, Wiggs JL, Pasquale LR, Hysi P, Chua SYL, Patel PJ, Foster PJ, Khaw PT, Khawaja AP, UK Biobank Eye and Vision Consortium.

    JAMA Ophthalmol (2023)

    (Cited By: 1)

  32. Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden.

    Sekimitsu S, Xiang D, Smith SL, Curran K, Elze T, Friedman DS, Foster PJ, Luo Y, Pasquale LR, Peto T, Segrè AV, Shweikh Y, Warwick A, Zhao Y, Wiggs JL, Zebardast N, UK Biobank Eye and Vision Consortium.

    JAMA Ophthalmol (2023)

    (Cited By: 2)

  33. Artificial intelligence in retinal disease: clinical application, challenges, and future directions.

    Daich Varela M, Sen S, De Guimaraes TAC, Kabiri N, Pontikos N, Balaskas K, Michaelides M.

    Graefes Arch Clin Exp Ophthalmol (2023)

    (Cited By: 11)

  34. 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 (2024)

    (Cited By: 5)

  35. 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)

    (Cited By: 6)

  36. 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)

    (Cited By: 4)

  37. Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

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

    (2023)

  38. 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)

    (Cited By: 1)

  39. 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)

    (Cited By: 8)

  40. 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, Balaskas K, Downes SM, Michaelides M, Pontikos N, Eye2Gene Patient Advisory Group.

    BMJ Open (2023)

    (Cited By: 3)

  41. 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)

  42. 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: 5)

  43. 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 (2023)

    (Cited By: 10)

  44. 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)

    (Cited By: 2)

  45. 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)

  46. 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)

  47. 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: 8)

  48. 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: 59)

  49. 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)

    (Cited By: 10)

  50. 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)

    (Cited By: 4)

  51. 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)

    (Cited By: 8)

  52. 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)

  53. A recurrent variant in LIM2 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: 4)

  54. 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: 42)

  55. 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: 8)

  56. 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)

    (Cited By: 6)

  57. 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: 12)

  58. 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: 8)

  59. 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)

  60. 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: 2)

  61. 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)

  62. 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: 15)

  63. 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: 10)

  64. 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)

  65. 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: 266)

  66. Pathogenic variants in the CYP21A2 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: 4)

  67. 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)

  68. 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: 33)

  69. Pathogenic NR2F1 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: 9)

  70. 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: 3)

  71. 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, 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 R, Rivas MA, Rioux JD, McGovern D, Huang H, Anderson CA, Daly MJ.

    (2021)

  72. 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: 16)

  73. 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: 48)

  74. 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)

    (Cited By: 1)

  75. 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: 10)

  76. 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)

  77. 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)

  78. 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: 16)

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

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

    (2021)

  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: 9)

  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)

    (Cited By: 8)

  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: 6)

  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: 16)

  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: 31)

  85. 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: 78)

  86. 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: 12)

  87. 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: 17)

  88. 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: 22)

  89. 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: 51)

  90. 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)

  91. 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: 6)

  92. 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: 62)

  93. 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: 7)

  94. Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-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: 10)

  95. 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: 16)

  96. 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: 7)

  97. 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)

    (Cited By: 1)

  98. 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: 15)

  99. 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: 95)

  100. 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: 3)

  101. 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: 30)

  102. 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)

  103. 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: 12)

  104. A novel missense mutation in LIM2 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: 7)

  105. 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: 47)

  106. 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: 19)

  107. 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: 39)

  108. 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)

    (Cited By: 1)

  109. 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: 4)

  110. 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: 21)

  111. 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: 19)

  112. 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: 5)

  113. 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: 9)

  114. 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: 22)

  115. 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: 17)

  116. 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)

  117. 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: 7)

  118. 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: 3)

  119. 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)

  120. 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)

  121. 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: 17)

  122. 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: 11)

  123. 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)

  124. 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: 17)

  125. 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: 5)

  126. 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: 12)

  127. 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: 16)

  128. 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)

  129. 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)

  130. Novel homozygous splicing mutations in ARL2BP 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: 7)

  131. 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: 10)

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

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

    (2018)

  133. Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 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: 20)

  134. 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)

  135. 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)

  136. 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, 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, 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.

    (2016)

  137. 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)

  138. Pheno4J: a gene to phenotype graph database

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

    (2017)

  139. Duplication events downstream ofIRX1cause 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)

  140. 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)

  141. 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)

  142. 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: 3)

  143. 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: 43)

  144. 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: 25)

  145. Functional variants in the LRRK2 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: 194)

  146. 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)

  147. 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)

  148. 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: 14)

  149. 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: 59)

  150. 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: 13)

  151. 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)

  152. 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)

  153. 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: 12)

  154. 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: 29)

  155. 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: 46)

  156. 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: 25)

  157. 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: 403)

  158. 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: 80)

  159. 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: 25)

  160. 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: 44)

  161. 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: 38)

  162. 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)

  163. 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: 153)

  164. 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: 41)

  165. 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: 9)

  166. 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: 41)

  167. 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)

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

    UniProt Consortium.

    Nucleic Acids Res (2012)

    (Cited By: 852)

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

    Magrane M, UniProt Consortium.

    Database (Oxford) (2011)

    (Cited By: 781)

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

    UniProt Consortium.

    Nucleic Acids Res (2011)

    (Cited By: 455)

We are always eager for hard-working & motivated people to come and work with us.

If you're interested in joining us, please send Nikolas Pontikos a quick email with a CV and personal statement