Published Work

Our peer-reviewed publications

  1. 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)

  2. 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)

  3. 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)

  4. 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)

  5. 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)

  6. 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)

  7. 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)

  8. 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)

  9. 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)

  10. 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: 13)

  11. 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)

  12. 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)

  13. 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)

  14. 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: 3)

  15. 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) (2021)

  16. 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)

  17. 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: 2)

  18. 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: 3)

  19. 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)

  20. 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: 1)

  21. 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)

  22. 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)

  23. 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: 2)

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

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

    (2021)

  25. 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)

  26. 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)

  27. 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: 1)

  28. 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)

  29. 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: 5)

  30. 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: 12)

  31. 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: 2)

  32. 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: 6)

  33. 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: 4)

  34. 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: 20)

  35. 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)

  36. 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: 1)

  37. 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: 12)

  38. 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: 2)

  39. 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)

  40. 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: 8)

  41. 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)

  42. 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)

  43. 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: 3)

  44. 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: 35)

  45. 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)

  46. 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: 8)

  47. 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)

  48. 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: 5)

  49. 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: 2)

  50. 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: 16)

  51. 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: 7)

  52. 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: 18)

  53. 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)

  54. 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: 2)

  55. 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: 11)

  56. 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: 7)

  57. 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: 2)

  58. 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: 5)

  59. 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: 9)

  60. 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: 10)

  61. 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)

  62. 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: 5)

  63. 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)

  64. 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)

  65. 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)

  66. 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: 8)

  67. 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: 5)

  68. 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)

  69. 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: 8)

  70. 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: 3)

  71. 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: 4)

  72. 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: 10)

  73. 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: 2)

  74. 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)

  75. 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: 5)

  76. 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: 6)

  77. 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)

  78. 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: 8)

  79. 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)

  80. 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)

  81. 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)

  82. 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)

  83. Pheno4J: a gene to phenotype graph database

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

    (2017)

  84. 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.

    (2017)

  85. 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)

  86. 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)

  87. 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)

  88. 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: 26)

  89. 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: 16)

  90. 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: 103)

  91. 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)

  92. 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: 5)

  93. 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: 10)

  94. 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: 39)

  95. 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: 9)

  96. 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)

  97. Pheno4J: a gene to phenotype graph database.

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

    Bioinformatics (2017)

    (Cited By: 3)

  98. 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: 7)

  99. 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: 21)

  100. 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: 34)

  101. 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: 19)

  102. 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: 333)

  103. 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: 62)

  104. 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: 15)

  105. 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: 33)

  106. 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: 32)

  107. 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: 12)

  108. 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: 105)

  109. 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: 30)

  110. 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: 5)

  111. 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: 33)

  112. 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)

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

    UniProt Consortium.

    Nucleic Acids Res (2012)

    (Cited By: 829)

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

    Magrane M, UniProt Consortium.

    Database (Oxford) (2011)

    (Cited By: 712)

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

    UniProt Consortium.

    Nucleic Acids Res (2011)

    (Cited By: 446)

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