(Cited By: 12)
Treatment decisions of UK hospital optometrists and ophthalmologists in patients with nAMD: a vignette study.
Creer RC, Roberts SA, Aslam TM, Balaskas K, Chhabra R, Mahmood S, Turner GS, Harper RA.
Ophthalmic Physiol Opt (2019)
(Cited By: 1)
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)
An open-source dataset of anti-VEGF therapy in diabetic macular oedema patients over four years & their visual outcomes
Kern C, Fu DJ, Huemer J, Faes L, Wagner SK, Kortuem K, Patel PJ, Balaskas K, Hamilton R, Sim DA, Keane PA.
(2019)
Associations with photoreceptor thickness measures in the UK Biobank.
Chua SYL, Dhillon B, Aslam T, Balaskas K, Yang Q, Keane PA, Tufail A, Reisman C, Foster PJ, Patel PJ, UK Biobank Eye and Vision Consortium.
Sci Rep (2019)
(Cited By: 4)
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: 3)
Validation of automated artificial intelligence segmentation of optical coherence tomography images.
Maloca PM, Lee AY, de Carvalho ER, Okada M, Fasler K, Leung I, Hörmann B, Kaiser P, Suter S, Hasler PW, Zarranz-Ventura J, Egan C, Heeren TFC, Balaskas K, Tufail A, Scholl HPN.
PLoS One (2019)
(Cited By: 23)
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, Sakuramoto H, Kominami T, Terasaki H, Yang L, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Miyake Y, Iwata T, Tsunoda K, Japan Eye Genetics Consortium.
Invest Ophthalmol Vis Sci (2019)
(Cited By: 6)
(Cited By: 36)
Comparing diabetic retinopathy lesions in scanning laser ophthalmoscopy and colour fundus photography.
Nghiem AZ, Nderitu P, Lukic M, Khatun M, Largan R, Kortuem K, Balaskas K, Sim D.
Acta Ophthalmol (2019)
(Cited By: 3)
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)
Automated deep learning design for medical image classification by health-care professionals with no coding experience: a feasibility study.
Faes L, Wagner SK, Fu DJ, Liu X, Korot E, Ledsam JR, Back T, Chopra R, Pontikos N, Kern C, Moraes G, Schmid MK, Sim D, Balaskas K, Bachmann LM, Denniston AK, Keane PA.
Lancet Digit Health (2019)
(Cited By: 36)
A comparison of deep learning performance against health-care professionals in detecting diseases from medical imaging: a systematic review and meta-analysis.
Liu X, Faes L, Kale AU, Wagner SK, Fu DJ, Bruynseels A, Mahendiran T, Moraes G, Shamdas M, Kern C, Ledsam JR, Schmid MK, Balaskas K, Topol EJ, Bachmann LM, Keane PA, Denniston AK.
Lancet Digit Health (2019)
(Cited By: 14)
One- and two-year visual outcomes from the Moorfields age-related macular degeneration database: a retrospective cohort study and an open science resource.
Fasler K, Moraes G, Wagner S, Kortuem KU, Chopra R, Faes L, Preston G, Pontikos N, Fu DJ, Patel P, Tufail A, Lee AY, Balaskas K, Keane PA.
BMJ Open (2019)
(Cited By: 11)
(Cited By: 1)
Effect of total anti-VEGF treatment exposure on patterns of choroidal neovascularisation assessed by optical coherence tomography angiography in age-related macular degeneration: a retrospective case series.
Faes L, Ali Z, Wagner S, Patel PJ, Fu DJ, Bachmann LM, Schmid MK, Waheed N, Keane PA, Balaskas K.
BMJ Open Ophthalmol (2019)
(Cited By: 2)
ReLayer: a Free, Online Tool for Extracting Retinal Thickness From Cross-Platform OCT Images.
Ometto G, Moghul I, Montesano G, Hunter A, Pontikos N, Jones PR, Keane PA, Liu X, Denniston AK, Crabb DP.
Transl Vis Sci Technol (2019)
(Cited By: 6)
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)
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)
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)
Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques.
Fujinami-Yokokawa Y, Pontikos N, Yang L, Tsunoda K, Yoshitake K, Iwata T, Miyata H, Fujinami K, Japan Eye Genetics Consortium OBO.
J Ophthalmol (2019)
(Cited By: 10)
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.
Hull S, Arno G, Ostergaard P, Pontikos N, Robson AG, Webster AR, Hogg CR, Wright GA, Henderson RHH, Martin CA, Jackson AP, Mansour S, Moore AT, Michaelides M.
Am J Ophthalmol (2019)
(Cited By: 7)
Clinical Outcomes of a Hospital-Based Teleophthalmology Service: What Happens to Patients in a Virtual Clinic?
Kern C, Kortuem K, Hamilton R, Fasolo S, Cai Y, Balaskas K, Keane P, Sim D.
Ophthalmol Retina (2019)
(Cited By: 17)
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)
Psychological and Psychosocial Interventions for Depression and Anxiety in Patients With Age-Related Macular Degeneration: A Systematic Review.
Senra H, Macedo AF, Nunes N, Balaskas K, Aslam T, Costa E.
Am J Geriatr Psychiatry (2019)
(Cited By: 8)
Impact of optical coherence tomography on diagnostic decision-making by UK community optometrists: a clinical vignette study.
Jindal A, Ctori I, Fidalgo B, Dabasia P, Balaskas K, Lawrenson JG.
Ophthalmic Physiol Opt (2019)
(Cited By: 6)
Test performance of optical coherence tomography angiography in detecting retinal diseases: a systematic review and meta-analysis.
Faes L, Bodmer NS, Locher S, Keane PA, Balaskas K, Bachmann LM, Schlingemann RO, Schmid MK.
Eye (Lond) (2019)
(Cited By: 2)
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Taylor RL, Poulter JA, Downes SM, McKibbin M, Khan KN, Inglehearn CF, Webster AR, Hardcastle AJ, Michaelides M, Bishop PN, Clark SJ, Black GC, United Kingdom Inherited Retinal Dystrophy Consortium.
Ophthalmology (2019)
(Cited By: 11)
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
Dudakova L, Evans CJ, Pontikos N, Hafford-Tear NJ, Malinka F, Skalicka P, Horinek A, Munier FL, Voide N, Studeny P, Vanikova L, Kubena T, Rojas Lopez KE, Davidson AE, Hardcastle AJ, Tuft SJ, Liskova P.
Exp Eye Res (2019)
(Cited By: 4)
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Silva RS, Arno G, Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL, Dhaenens CM, Jensen H, Rosenberg T, van Heyningen V, Moore AT, Puech B, Webster AR.
Hum Mutat (2019)
(Cited By: 7)
Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.
PGP-UK Consortium.
BMC Med Genomics (2018)
(Cited By: 12)
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)
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)
Initiation and maintenance of a Treat-and-Extend regimen for ranibizumab therapy in wet age-related macular degeneration: recommendations from the UK Retinal Outcomes Group.
Amoaku W, Balaskas K, Cudrnak T, Downey L, Groppe M, Mahmood S, Mehta H, Mohamed Q, Mushtaq B, Severn P, Vardarinos A, Yang Y, Younis S.
Clin Ophthalmol (2018)
(Cited By: 11)
Interdevice variability of central corneal thickness measurement.
Maloca PM, Studer HP, Ambrósio R, Goldblum D, Rothenbuehler S, Barthelmes D, Zweifel S, Scholl HPN, Balaskas K, Tufail A, Hasler PW.
PLoS One (2018)
(Cited By: 5)
Novel homozygous splicing mutations in <i>ARL2BP</i> cause autosomal recessive retinitis pigmentosa.
Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ, Raymond FL, Cheetham ME, Webster AR, Downes SM, Hardcastle AJ, NIHR-BioResource Rare Diseases Consortium, U.K. Inherited Retinal Dystrophy Consortium.
Mol Vis (2018)
(Cited By: 6)
Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease.
Schiff ER, Frampton M, Ben-Yosef N, Avila BE, Semplici F, Pontikos N, Bloom SL, McCartney SA, Vega R, Lovat LB, Wood E, Hart A, Israeli E, Crespi D, Furman MA, Mann S, Murray CD, Segal AW, Levine AP.
Hum Genet (2018)
(Cited By: 5)
Swept-source optical coherence tomography angiography features of sub-retinal fibrosis in neovascular age-related macular degeneration.
Balaskas K, Ali ZC, Saddik T, Gemenetzi M, Patel P, Aslam TM.
Clin Exp Ophthalmol (2019)
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.
Tummala H, Collopy LC, Walne AJ, Ellison A, Cardoso S, Aksu T, Yarali N, Aslan D, Fikret Akata R, Teo J, Songyang Z, Pontikos N, Fitzgibbon J, Tomita K, Vulliamy T, Dokal I.
Blood (2018)
(Cited By: 7)
Safety and Feasibility of a Novel Sparse Optical Coherence Tomography Device for Patient-Delivered Retina Home Monitoring.
Maloca P, Hasler PW, Barthelmes D, Arnold P, Matthias M, Scholl HPN, Gerding H, Garweg J, Heeren T, Balaskas K, de Carvalho JER, Egan C, Tufail A, Zweifel SA.
Transl Vis Sci Technol (2018)
(Cited By: 17)
High-Performance Virtual Reality Volume Rendering of Original Optical Coherence Tomography Point-Cloud Data Enhanced With Real-Time Ray Casting.
Maloca PM, de Carvalho JER, Heeren T, Hasler PW, Mushtaq F, Mon-Williams M, Scholl HPN, Balaskas K, Egan C, Tufail A, Witthauer L, Cattin PC.
Transl Vis Sci Technol (2018)
(Cited By: 9)
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)
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic <i>ERCC6L2</i> variants.
Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I, Sidhu JK, Rajeeve V, Rio-Machin A, Seraihi AA, Duncombe AS, Jenner M, Smith OP, Enright H, Norton A, Aksu T, Özbek NY, Pontikos N, Cutillas P, Dokal I, Vulliamy T.
Proc Natl Acad Sci U S A (2018)
(Cited By: 13)
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)
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)
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)
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)
Pheno4J: a gene to phenotype graph database
Mughal S, Moghul I, Yu J, Clark T, Gregory DS, Pontikos N.
(2017)
Duplication events downstream of<i>IRX1</i>cause North Carolina macular dystrophy at the MCDR3 locus
Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT.
(2017)
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)
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)
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)
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ.
PLoS Genet (2018)
(Cited By: 29)
Features of choroidal naevi on swept source optical coherence tomography angiography and structural reverse flow optical coherence tomography.
Ali ZC, Gray J, Balaskas K.
Graefes Arch Clin Exp Ophthalmol (2018)
(Cited By: 7)
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ.
Am J Hum Genet (2018)
(Cited By: 22)
Reply.
Aslam TM, Mahmood S, Ali ZC, Ahmad NA, Thorell MR, Balaskas K.
Am J Ophthalmol (2018)
Functional variants in the <i>LRRK2</i> gene confer shared effects on risk for Crohn's disease and Parkinson's disease.
Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, Ruane D, Gettler K, Chen E, Li D, Schiff ER, Pontikos N, Barzilai N, Brant SR, Bressman S, Cheifetz AS, Clark LN, Daly MJ, Desnick RJ, Duerr RH, Katz S, Lencz T, Myers RH, Ostrer H, Ozelius L, Payami H, Peter Y, Rioux JD, Segal AW, Scott WK, Silverberg MS, Vance JM, Ubarretxena-Belandia I, Foroud T, Atzmon G, Pe'er I, Ioannou Y, McGovern DPB, Yue Z, Schadt EE, Cho JH, Peter I.
Sci Transl Med (2018)
(Cited By: 127)
Implementation of medical retina virtual clinics in a tertiary eye care referral centre.
Kortuem K, Fasler K, Charnley A, Khambati H, Fasolo S, Katz M, Balaskas K, Rajendram R, Hamilton R, Keane PA, Sim DA.
Br J Ophthalmol (2018)
(Cited By: 29)
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.
Berry V, Pontikos N, Moore A, Ionides ACW, Plagnol V, Cheetham ME, Michaelides M.
Eye (Lond) (2018)
(Cited By: 12)
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)
Swept-Source Optical Coherence Tomography Angiography Findings in Torpedo Maculopathy.
Ali Z, Shields CL, Jasani K, Aslam TM, Balaskas K.
Ophthalmic Surg Lasers Imaging Retina (2017)
(Cited By: 3)
Use of a Neural Net to Model the Impact of Optical Coherence Tomography Abnormalities on Vision in Age-related Macular Degeneration.
Aslam TM, Zaki HR, Mahmood S, Ali ZC, Ahmad NA, Thorell MR, Balaskas K.
Am J Ophthalmol (2018)
(Cited By: 15)
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)
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ, 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium.
Hum Mutat (2018)
(Cited By: 11)
The Human Salivary Microbiome Is Shaped by Shared Environment Rather than Genetics: Evidence from a Large Family of Closely Related Individuals.
Shaw L, Ribeiro ALR, Levine AP, Pontikos N, Balloux F, Segal AW, Roberts AP, Smith AM.
mBio (2017)
(Cited By: 45)
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.
Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT.
Sci Rep (2017)
(Cited By: 11)
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)
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)
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.
Cardoso SR, Ellison ACM, Walne AJ, Cassiman D, Raghavan M, Kishore B, Ancliff P, Rodríguez-Vigil C, Dobbels B, Rio-Machin A, Al Seraihi AFH, Pontikos N, Tummala H, Vulliamy T, Dokal I.
Haematologica (2017)
(Cited By: 11)
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JOB, Clark T, Gregory DS, Nemeth AM, Halford S, Inglehearn CF, Downes S, Black GC, Webster AR, Hardcastle AJ, UKIRDC, Plagnol V.
Bioinformatics (2017)
(Cited By: 25)
Experience of Anti-VEGF Treatment and Clinical Levels of Depression and Anxiety in Patients With Wet Age-Related Macular Degeneration.
Senra H, Balaskas K, Mahmoodi N, Aslam T.
Am J Ophthalmol (2017)
(Cited By: 34)
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P, UK Inherited Retinal Dystrophy Consortium, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF.
Am J Hum Genet (2017)
(Cited By: 40)
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC, UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project.
JAMA Ophthalmol (2017)
(Cited By: 23)
The Human Phenotype Ontology in 2017.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.
Nucleic Acids Res (2017)
(Cited By: 365)
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE, UKIRDC, Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R.
Am J Hum Genet (2016)
(Cited By: 69)
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ.
Am J Hum Genet (2016)
(Cited By: 17)
QUANTITATIVE ANALYSIS OF PIGMENT EPITHELIAL DETACHMENT RESPONSE TO DIFFERENT ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR AGENTS IN WET AGE-RELATED MACULAR DEGENERATION.
Balaskas K, Karampelas M, Horani M, Hotu O, Keane P, Aslam T.
Retina (2017)
(Cited By: 6)
A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.
Chuang LS, Villaverde N, Hui KY, Mortha A, Rahman A, Levine AP, Haritunians T, Evelyn Ng SM, Zhang W, Hsu NY, Facey JA, Luong T, Fernandez-Hernandez H, Li D, Rivas M, Schiff ER, Gusev A, Schumm LP, Bowen BM, Sharma Y, Ning K, Remark R, Gnjatic S, Legnani P, George J, Sands BE, Stempak JM, Datta LW, Lipka S, Katz S, Cheifetz AS, Barzilai N, Pontikos N, Abraham C, Dubinsky MJ, Targan S, Taylor K, Rotter JI, Scherl EJ, Desnick RJ, Abreu MT, Zhao H, Atzmon G, Pe'er I, Kugathasan S, Hakonarson H, McCauley JL, Lencz T, Darvasi A, Plagnol V, Silverberg MS, Muise AM, Brant SR, Daly MJ, Segal AW, Duerr RH, Merad M, McGovern DP, Peter I, Cho JH.
Gastroenterology (2016)
(Cited By: 37)
Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families.
Levine AP, Pontikos N, Schiff ER, Jostins L, Speed D, NIDDK Inflammatory Bowel Disease Genetics Consortium, Lovat LB, Barrett JC, Grasberger H, Plagnol V, Segal AW.
Gastroenterology (2016)
(Cited By: 34)
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)
Psychological impact of anti-VEGF treatments for wet macular degeneration-a review.
Senra H, Ali Z, Balaskas K, Aslam T.
Graefes Arch Clin Exp Ophthalmol (2016)
(Cited By: 27)
A cross-sectional study of submacular thickening in intermediate uveitis and determination of treatment threshold.
Simonazzi B, Balaskas K, Guex-Crosier Y.
BMC Ophthalmol (2016)
Diagnostic and Therapeutic Challenges.
Pastor-Idoate S, Heimann H, Keane PA, Balaskas K, Lujan BJ.
Retina (2016)
Standardizing Flow Cytometry Immunophenotyping Analysis from the Human ImmunoPhenotyping Consortium.
Finak G, Langweiler M, Jaimes M, Malek M, Taghiyar J, Korin Y, Raddassi K, Devine L, Obermoser G, Pekalski ML, Pontikos N, Diaz A, Heck S, Villanova F, Terrazzini N, Kern F, Qian Y, Stanton R, Wang K, Brandes A, Ramey J, Aghaeepour N, Mosmann T, Scheuermann RH, Reed E, Palucka K, Pascual V, Blomberg BB, Nestle F, Nussenblatt RB, Brinkman RR, Gottardo R, Maecker H, McCoy JP.
Sci Rep (2016)
(Cited By: 128)
Patient perceptions and experiences of stereotactic radiotherapy for wet age-related macular degeneration.
Senra H, Joseph S, Balaskas K, Horani M, Aslam T.
Eur J Ophthalmol (2016)
(Cited By: 1)
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Davidson AE, Liskova P, Evans CJ, Dudakova L, Nosková L, Pontikos N, Hartmannová H, Hodaňová K, Stránecký V, Kozmík Z, Levis HJ, Idigo N, Sasai N, Maher GJ, Bellingham J, Veli N, Ebenezer ND, Cheetham ME, Daniels JT, Thaung CM, Jirsova K, Plagnol V, Filipec M, Kmoch S, Tuft SJ, Hardcastle AJ.
Am J Hum Genet (2016)
(Cited By: 34)
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.
Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C, Uk Inherited Retinal Disease Consortium, Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR.
Invest Ophthalmol Vis Sci (2015)
(Cited By: 7)
The Novel Evidenced Assessment of Tortuosity system: interobserver reliability and agreement with clinical assessment.
Balaskas K, Tiew S, Czanner G, Tan AL, Ashworth J, Biswas S, Aslam T.
Acta Ophthalmol (2016)
Automated Analysis of Vitreous Inflammation Using Spectral-Domain Optical Coherence Tomography.
Keane PA, Balaskas K, Sim DA, Aman K, Denniston AK, Aslam T, And For The Equator Study Group.
Transl Vis Sci Technol (2015)
(Cited By: 18)
Management of choroidal naevomelanocytic lesions: feasibility and safety of a virtual clinic model.
Balaskas K, Gray J, Blows P, Rajai A, Flaye D, Peto T, Sagoo MS.
Br J Ophthalmol (2016)
(Cited By: 9)
Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping.
Wallace C, Cutler AJ, Pontikos N, Pekalski ML, Burren OS, Cooper JD, García AR, Ferreira RC, Guo H, Walker NM, Smyth DJ, Rich SS, Onengut-Gumuscu S, Sawcer SJ, Ban M, Richardson S, Todd JA, Wicker LS.
PLoS Genet (2015)
(Cited By: 34)
Proton pump inhibitors and histamine 2 blockers are associated with improved overall survival in patients with head and neck squamous carcinoma.
Papagerakis S, Bellile E, Peterson LA, Pliakas M, Balaskas K, Selman S, Hanauer D, Taylor JM, Duffy S, Wolf G.
Cancer Prev Res (Phila) (2014)
(Cited By: 36)
Associations between autofluorescence abnormalities and visual acuity in idiopathic macular telangiectasia type 2: MacTel project report number 5.
Balaskas K, Leung I, Sallo FB, Clemons TE, Bird AC, Peto T.
Retina (2014)
(Cited By: 4)
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)
Comparison of mathematical morphological descriptors of hyporeflective cavities in optical coherence tomography of patients with macular telangiectasia compared to patients with diabetic maculopathy.
Aslam T, Tan SZ, D'Souza Y, Balaskas K, Mahmood S.
Acta Ophthalmol (2014)
(Cited By: 1)
Repeatability of visual function measures in age-related macular degeneration.
Aslam T, Mahmood S, Balaskas K, Patton N, Tanawade RG, Tan SZ, Roberts SA, Parkes J, Bishop PN.
Graefes Arch Clin Exp Ophthalmol (2014)
(Cited By: 4)
Is indocyanine green angiography useful for the diagnosis of macular telangiectasia type 2?
Niskopoulou M, Balaskas K, Leung I, Sallo FB, Clemons TE, Bird AC, Peto T, MacTel Study group.
Br J Ophthalmol (2013)
(Cited By: 3)
Experimental uveitis can be maintained in rabbits for a period of six weeks after a safe sensitization method.
Eperon S, Balaskas K, Vaudaux J, Guex-Crosier Y.
Curr Eye Res (2013)
(Cited By: 2)
A new drug delivery system inhibits uveitis in an animal model after cataract surgery.
Eperon S, Rodriguez-Aller M, Balaskas K, Gurny R, Guex-Crosier Y.
Int J Pharm (2013)
(Cited By: 11)
Differences in spectral absorption properties between active neovascular macular degeneration and mild age related maculopathy.
Balaskas K, Nourrit V, Dinsdale M, Henson DB, Aslam T.
Br J Ophthalmol (2013)
(Cited By: 3)
Ranibizumab for the management of Sorsby fundus dystrophy.
Balaskas K, Hovan M, Mahmood S, Bishop P.
Eye (Lond) (2013)
(Cited By: 11)
Long-term ranibizumab treatment for choroidal neovascularization secondary to serpiginous choroiditis.
Balaskas K, Ur Rehman S, D'Souza Y.
Can J Ophthalmol (2012)
(Cited By: 6)
Peripapillary choroidal neovascularisation in the context of ocular syphilis is sensitive to combination antibiotic and corticosteroid treatment.
Balaskas K, Spencer S, D'Souza Y.
Int Ophthalmol (2013)
(Cited By: 5)
Infliximab therapy for a severe case of IgG4-related ocular adnexal disorder recalcitrant to corticosteroid treatment.
Balaskas K, de Leval L, La Corte R, Zografos L, Guex-Crosier Y.
Ocul Immunol Inflamm (2012)
(Cited By: 7)
Retinal thickening in HLA-B27-associated acute anterior uveitis: evolution with time and association with severity of inflammatory activity.
Balaskas K, Ballabeni P, Guex-Crosier Y.
Invest Ophthalmol Vis Sci (2012)
(Cited By: 10)
Azithromycin versus Sulfadiazine and Pyrimethamine for non-vision-threatening toxoplasmic retinochoroiditis: a pilot study.
Balaskas K, Vaudaux J, Boillat-Blanco N, Guex-Crosier Y.
Med Sci Monit (2012)
(Cited By: 10)
[Peripheral occlusive retinal vasculopathy in a woman with combined preeclampsia and alpha thalassemia minor].
Guber I, Balaskas K, Guex-Crosier Y.
Klin Monbl Augenheilkd (2012)
Indocyanine-green angiography findings in Susac's syndrome.
Balaskas K, Guex-Crosier Y, Borruat FX.
Klin Monbl Augenheilkd (2012)
(Cited By: 3)
Recurrent paroxysmal fever revealing ocular syphilis.
Balaskas K, Mokrim R, Guex-Crosier Y.
Klin Monbl Augenheilkd (2012)
Ocular involvement in idiopathic hypereosinophilic syndrome: a rare finding.
Balaskas K, Wyss P, Guex-Crosier Y.
Klin Monbl Augenheilkd (2012)
(Cited By: 1)
Fluorescein and indocyanine-green angiography in ocular syphilis: an exploratory study.
Balaskas K, Sergentanis TN, Giulieri S, Guex-Crosier Y.
Graefes Arch Clin Exp Ophthalmol (2012)
(Cited By: 6)
Reorganizing the protein space at the Universal Protein Resource (UniProt).
UniProt Consortium.
Nucleic Acids Res (2012)
(Cited By: 838)
Retinal manifestations in a patient with xanthoma disseminatum (non-langerhans cell histiocytosis).
Konstantinidis L, Laffitte E, Wasem YM, Balaskas K, Guex-Crosier Y.
Klin Monbl Augenheilkd (2011)
G-6-PD deficiency as the cause of isolated peripheral retinal ischemia.
Balaskas K, Wimmersberger Y, Guex-Crosier Y.
Klin Monbl Augenheilkd (2011)
Immune recovery uveitis occurring after chemotherapy and ocular CMV infection in chronic lymphatic leukaemia.
Wimmersberger Y, Balaskas K, Gander M, Pournaras JA, Guex-Crosier Y.
Klin Monbl Augenheilkd (2011)
(Cited By: 1)
Contribution of Serology in the Diagnosis of Cogan's Syndrome.
Balaskas K, Majo F, Ikonomidis C, Guex-Crosier Y.
Klin Monbl Augenheilkd (2011)
Indocyanine green angiography findings in acute retinal necrosis syndrome.
Bissig A, Balaskas K, Vaudaux JD, Guex-Crosier Y.
Klin Monbl Augenheilkd (2011)
(Cited By: 3)
UniProt Knowledgebase: a hub of integrated protein data.
Magrane M, UniProt Consortium.
Database (Oxford) (2011)
(Cited By: 742)
Analysis of significant factors influencing visual acuity in ocular syphilis.
Balaskas K, Sergentanis TN, Giulieri S, Guex-Crosier Y.
Br J Ophthalmol (2011)
(Cited By: 19)
Ongoing and future developments at the Universal Protein Resource.
UniProt Consortium.
Nucleic Acids Res (2011)
(Cited By: 449)
[Branch retinal artery occlusion as the sole ocular manifestation of Takayasu arteritis].
Balaskas K, Potamitou D, Spastri A.
J Fr Ophtalmol (2010)
(Cited By: 2)
Endogenous endophthalmitis secondary to bacterial meningitis from Neisseria Meningitidis: a case report and review of the literature.
Balaskas K, Potamitou D.
Cases J (2009)
(Cited By: 5)