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Number of items: 87.
Article
Aschard, H;
Kang, JH;
Iglesias, AI;
Hysi, P;
Bailey, JNC;
Khawaja, AP;
Allingham, RR;
... Pasquale, LR; + view all
(2017)
Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis.
European Journal of Human Genetics volume
, 25
(11)
pp. 1261-1267.
10.1038/ejhg.2017.136.
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Bonfante, B;
Faux, P;
Navarro, N;
Mendoza-Revilla, J;
Dubied, M;
Montillot, C;
Wentworth, E;
... Ruiz-Linares, A; + view all
(2021)
A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.
Science Advances
, 7
(6)
, Article eabc6160. 10.1126/sciadv.abc6160.
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Bonnemaijer, PWM;
Iglesias, AI;
Nadkarni, GN;
Sanyiwa, AJ;
Hassan, HG;
Cook, C;
Simcoe, M;
... Klaver, CCW; + view all
(2018)
Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.
Human Genetics
, 137
(10)
pp. 847-862.
10.1007/s00439-018-1943-7.
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Bonnemaijer, PWM;
Leeuwen, EMV;
Iglesias, AI;
Gharahkhani, P;
Vitart, V;
Khawaja, AP;
Simcoe, M;
... Duijn, CMV; + view all
(2019)
Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.
Communications Biology
, 2
, Article 435. 10.1038/s42003-019-0634-9.
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Chintalapudi, SR;
Maria, D;
Di Wang, X;
Bailey, JNC;
Allingham, R;
Brilliant, M;
Budenz, D;
... International Glaucoma Genetics Consortium, .; + view all
(2017)
Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility.
Nature Communications
, 8
, Article 1755. 10.1038/s41467-017-00837-5.
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Choquet, H;
Melles, RB;
Yin, J;
Hoffmann, TJ;
Thai, KK;
Kvale, MN;
Banda, Y;
... Jorgenson, E; + view all
(2020)
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.
Communications Biology
, 3
, Article 301. 10.1038/s42003-020-1037-7.
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Chua, S;
Thomas, D;
Allen, N;
Lotery, A;
Desai, P;
Patel, P;
Muthy, Z;
... Foster, PJ; + view all
(2019)
Cohort profile: design and methods in the eye and vision consortium of UK Biobank.
BMJ Open
, 9
(2)
, Article e025077. 10.1136/bmjopen-2018-025077.
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Chua, SYL;
Dhillon, B;
Aslam, T;
Balaskas, K;
Yang, Q;
Keane, PA;
Tufail, A;
... UK Biobank Eye and Vision Consortium; + view all
(2019)
Associations with photoreceptor thickness measures in the UK Biobank.
Scientific Reports
, 9
, Article 19440. 10.1038/s41598-019-55484-1.
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Chua, SYL;
Khawaja, AP;
Dick, AD;
Morgan, J;
Dhillon, B;
Lotery, AJ;
Strouthidis, NG;
... UK Biobank Eye and Vision Consortium; + view all
(2020)
Ambient Air Pollution Associations with Retinal Morphology in the UK Biobank.
Investigative Ophthalmology & Visual Science
, 61
(5)
, Article 32. 10.1167/iovs.61.5.32.
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Craig, JE;
Han, X;
Qassim, A;
Hassall, M;
Bailey, JNC;
Kinzy, TG;
Khawaja, AP;
... MacGregor, S; + view all
(2020)
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.
Nature Genetics
, 52
pp. 160-166.
10.1038/s41588-019-0556-y.
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Cumberland, PM;
Bao, Y;
Hysi, PG;
Foster, PJ;
Hammond, CJ;
Rahi, JS;
UK Biobank Eyes & Vision Consortium, .;
(2015)
Frequency and Distribution of Refractive Error in Adult Life: Methodology and Findings of the UK Biobank Study.
PLoS One
, 10
(10)
, Article e0139780. 10.1371/journal.pone.0139780.
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Currant, H;
Hysi, P;
Fitzgerald, TW;
Gharahkhani, P;
Bonnemaijer, PWM;
Senabouth, A;
Hewitt, AW;
... Khawaja, AP; + view all
(2021)
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.
PLOS Genetics
, 17
(5)
, Article e1009497. 10.1371/journal.pgen.1009497.
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Davidson, AE;
Cheong, SS;
Hysi, PG;
Venturini, C;
Plagnol, V;
Ruddle, JB;
Ali, H;
... Hardcastle, AJ; + view all
(2014)
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.
PLoS One
, 9
(8)
, Article e104163. 10.1371/journal.pone.0104163.
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de Vries, PS;
Sabater-Lleal, M;
Chasman, DI;
Trompet, S;
Ahluwalia, TS;
Teumer, A;
Kleber, ME;
... Dehghan, A; + view all
(2017)
Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.
PLoS ONE
, 12
(1)
, Article e0167742. 10.1371/journal.pone.0167742.
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Diaz-Torres, Santiago;
He, Weixiong;
Yu, Regina;
IGGC International Glaucoma Genetics Consortium;
Khawaja, Anthony P;
Hammond, Christopher J;
Hysi, Pirro G;
... Gharahkhani, Puya; + view all
(2024)
Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma.
Nature Communications
, 15
, Article 9959. 10.1038/s41467-024-54301-2.
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Fan, BJ;
Chen, X;
Sondhi, N;
Sharmila, PF;
Soumittra, N;
Sripriya, S;
Sacikala, S;
... Wiggs, JL; + view all
(2018)
Family-based genome-wide association study of south Indian pedigrees supports WNT7B as a central corneal thickness locus.
Investigative Ophthalmology and Visual Science
, 59
(6)
pp. 2495-2502.
10.1167/iovs.17-23536.
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Fan, Q;
Foster, P;
Verhoeven, VJM;
Wojciechowski, R;
Barathi, VA;
Hysi, PG;
Guggenheim, JA;
... Saw, SM; + view all
(2016)
Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error.
Nature Communications
, 7
, Article 11008. 10.1038/ncomms11008.
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Fan, Q;
Guo, X;
Tideman, JWL;
Williams, KM;
Yazar, S;
Hosseini, SM;
Howe, LD;
... CREAM Consortium, .; + view all
(2016)
Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium.
Scientific Reports
, 6
, Article 25853. 10.1038/srep25853.
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Fan, Q;
Pozarickij, A;
Tan, NYQ;
Guo, X;
Verhoeven, VJM;
Vitart, V;
Guggenheim, JA;
... Cheng, C-Y; + view all
(2020)
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.
Communications Biology
, 3
, Article 133. 10.1038/s42003-020-0802-y.
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Gao, X;
Nannini, DR;
Corrao, K;
Torres, M;
Chen, YDI;
Fan, BJ;
Wiggs, JL;
... Zeller, T; + view all
(2016)
Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos.
Human Molecular Genetics
, 25
(22)
pp. 5035-5045.
10.1093/hmg/ddw319.
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Gharahkhani, P;
Jorgenson, E;
Hysi, P;
Khawaja, AP;
Pendergrass, S;
Han, X;
Ong, JS;
... Wiggs, JL; + view all
(2021)
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Nature Communications
, 12
(1)
, Article 1258. 10.1038/s41467-020-20851-4.
(In press).
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Hamel, Andrew R;
Yan, Wenjun;
Rouhana, John M;
Monovarfeshani, Aboozar;
Jiang, Xinyi;
Mehta, Puja A;
Advani, Jayshree;
... Segrè, Ayellet V; + view all
(2024)
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma.
Nature Communications
, 15
, Article 396. 10.1038/s41467-023-44380-y.
(In press).
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Hamid, S;
Desai, P;
Hysi, P;
Burr, JM;
Khawaja, AP;
(2021)
Population screening for glaucoma in UK: current recommendations and future directions.
Eye
10.1038/s41433-021-01687-8.
(In press).
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Han, Xikun;
Gharahkhani, Puya;
Hamel, Andrew R;
Ong, Jue Sheng;
Rentería, Miguel E;
Mehta, Puja;
Dong, Xianjun;
... MacGregor, Stuart; + view all
(2023)
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.
Nature Genetics
10.1038/s41588-023-01428-5.
(In press).
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Han, X;
Qassim, A;
An, J;
Marshall, H;
Zhou, T;
Ong, J-S;
Hassall, MM;
... MacGregor, S; + view all
(2019)
Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.
Human Molecular Genetics
, 28
(21)
pp. 3680-3690.
10.1093/hmg/ddz193.
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Hardcastle, AJ;
Liskova, P;
Bykhovskaya, Y;
McComish, BJ;
Davidson, AE;
Inglehearn, CF;
Li, X;
... Hysi, PG; + view all
(2021)
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
Communications Biology
, 4
, Article 266. 10.1038/s42003-021-01784-0.
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Haworth, S;
Shapland, CY;
Hayward, C;
Prins, BP;
Felix, JF;
Medina-Gomez, C;
Rivadeneira, F;
... St Pourcain, B; + view all
(2019)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Nature Communications
, 10
, Article 357. 10.1038/s41467-018-07863-x.
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He, W;
Han, X;
Ong, JS;
Hewitt, AW;
MacKey, DA;
Gharahkhani, P;
MacGregor, S;
... Zeller, T; + view all
(2022)
Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.
JAMA Ophthalmology
, 140
(6)
pp. 568-576.
10.1001/jamaophthalmol.2022.0891.
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Hendricks, AE;
Bochukova, EG;
Marenne, G;
Keogh, JM;
Atanassova, N;
Bounds, R;
Wheeler, E;
... Bhattacharyaa, S; + view all
(2017)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Scientific Reports
, 7
(1)
, Article 4394. 10.1038/s41598-017-03054-8.
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Huang, J;
Howie, B;
McCarthy, S;
Memari, Y;
Walter, K;
Min, JL;
Danecek, P;
... Soranzo, N; + view all
(2015)
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Nature Communications
, 6
(811)
10.1038/ncomms9111.
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Hysi, PG;
Choquet, H;
Khawaja, AP;
Wojciechowski, R;
Tedja, MS;
Yin, J;
Simcoe, MJ;
... Hammond, CJ; + view all
(2020)
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.
Nature Genetics
, 52
pp. 401-407.
10.1038/s41588-020-0599-0.
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Hysi, PG;
Khawaja, AP;
Menni, C;
Tamraz, B;
Wareham, N;
Khaw, K-T;
Foster, PJ;
... Hammond, CJ; + view all
(2018)
Ascorbic acid metabolites are involved in intraocular pressure control in the general population.
Redox Biology
, 20
pp. 349-353.
10.1016/j.redox.2018.10.004.
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Hysi, PG;
Simcoe, MJ;
(2020)
Rhegmatogenous Retinal Detachment in the Age of Genomic Medicine.
JAMA Ophthalmology
, 138
(6)
pp. 678-679.
10.1001/jamaophthalmol.2020.1240.
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Iglesias, AI;
Mishra, A;
Vitart, V;
Bykhovskaya, Y;
Hoehn, R;
Springelkamp, H;
Cuellar-Partida, G;
... MacGregor, S; + view all
(2018)
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Nature Communications
, 9
, Article 1864. 10.1038/s41467-018-03646-6.
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Iglesias, AI;
Mishra, A;
Vitart, V;
Bykhovskaya, Y;
Höhn, R;
Springelkamp, H;
Cuellar-Partida, G;
... MacGregor, S; + view all
(2019)
Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
[Corrigendum].
Nature Communications
, 10
, Article 155. 10.1038/s41467-018-07819-1.
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Iglesias, AI;
van der Lee, SJ;
Bonnemaijer, PWM;
Höhn, R;
Nag, A;
Gharahkhani, P;
Khawaja, AP;
... van Duijn, CM; + view all
(2017)
Haplotype reference consortium panel: Practical implications of imputations with large reference panels.
Human Mutation
, 38
(8)
pp. 1025-1032.
10.1002/humu.23247.
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Jankipersadsing, SA;
Hadizadeh, F;
Bonder, MJ;
Tigchelaar, EF;
Deelen, P;
Fu, J;
Andreasson, A;
... Zhernakova, A; + view all
(2017)
A GWAS meta-analysis suggests roles for xenobiotic metabolism and ion channel activity in the biology of stool frequency.
[Letter].
Gut
, 66
(4)
pp. 756-758.
10.1136/gutjnl-2016-312398.
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Jarrar, ZA;
Al-Nosairy, KO;
Jiang, X;
Lamin, A;
Wong, D;
Ansari, AS;
Williams, KM;
... Mahroo, OA; + view all
(2024)
Temporal-to-Nasal Macular Ganglion Cell and Inner Plexiform Layer Ratios in a Large Adult Twin Cohort: Correlations With Age and Heritability.
Investigative Ophthalmology & Visual Science
, 65
(2)
, Article 26. 10.1167/iovs.65.2.26.
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Jarrar, ZA;
Ansari, AS;
Williams, KM;
Wong, DS;
Hysi, PG;
Mahroo, OA;
Hammond, CJ;
(2023)
Prevalence, Concordance, and Heritability of Vitreomacular Interface Abnormalities in a Twin Study.
Investigative Ophthalmology & Visual Science
, 64
(10)
, Article 9. 10.1167/iovs.64.10.9.
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Jiang, X;
Bhatti, T;
Tariq, A;
Williams, KM;
Chow, I;
Dar, T;
Webster, AR;
... Mahroo, OA; + view all
(2021)
Prevalence of electronegative electroretinograms in a healthy adult cohort.
BMJ Open Ophthalmology
, 6
(1)
, Article e000751. 10.1136/bmjophth-2021-000751.
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Khawaja, AP;
Chua, S;
Hysi, PG;
Georgoulas, S;
Currant, H;
Fitzgerald, TW;
Birney, E;
... UK Biobank Eye and Vision Consortium; + view all
(2020)
Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort: The UK Biobank.
Ophthalmology
, 127
(1)
pp. 62-71.
10.1016/j.ophtha.2019.08.015.
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Khawaja, AP;
Cooke Bailey, JN;
Wareham, NJ;
Scott, RA;
Simcoe, M;
Igo, RP;
Song, YE;
... NEIGHBORHOOD Consortium; + view all
(2018)
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.
Nature Genetics
, 50
(6)
pp. 778-782.
10.1038/s41588-018-0126-8.
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Khawaja, AP;
Rojas Lopez, KE;
Hardcastle, AJ;
Hammond, CJ;
Liskova, P;
Davidson, AE;
Gore, DM;
... Hysi, PG; + view all
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
JAMA Ophthalmology
10.1001/jamaophthalmol.2019.2058.
(In press).
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King, R;
Struebing, FL;
Li, Y;
Wang, J;
Koch, AA;
Cooke Bailey, JN;
Gharahkhani, P;
... Geisert, EE; + view all
(2018)
Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma.
PLoS Genetics
, 14
(1)
, Article e1007145. 10.1371/journal.pgen.1007145.
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Laville, V;
Kang, JH;
Cousins, CC;
Iglesias, AI;
Nagy, R;
Cooke Bailey, JN;
Igo, RP;
... UK Biobank, International Glaucoma Genetics Consortium, NEIGHBOR; + view all
(2019)
Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes.
American Journal of Ophthalmology
, 206
pp. 245-255.
10.1016/j.ajo.2019.05.015.
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Lee, Rachel H;
Kang, Jae H;
Wiggs, Janey L;
Wagner, Siegfried K;
Khawaja, Anthony P;
Pasquale, Louis R;
(2024)
Relationship Between Oral Health and Glaucoma Traits in the United Kingdom.
Journal of Glaucoma
, 33
(6)
pp. 400-408.
10.1097/IJG.0000000000002370.
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Lim, WS;
Magan, T;
Mahroo, OA;
Hysi, PG;
Helou, J;
Mohamed, MD;
(2018)
Retinal thickness measurements in sickle cell patients with HbSS and HbSC genotype.
Canadian Journal of Ophthalmology
, 53
(4)
pp. 420-424.
10.1016/j.jcjo.2017.10.006.
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Liskova, P;
Dudakova, L;
Krepelova, A;
Klema, J;
Hysi, PG;
(2017)
Replication of SNP associations with keratoconus in a Czech cohort.
PLOS ONE
, 12
(2)
, Article e0172365. 10.1371/journal.pone.0172365.
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Liu, F;
Chen, Y;
Zhu, G;
Hysi, PG;
Wu, S;
Adhikari, K;
Breslin, K;
... Kayser, M; + view all
(2018)
Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.
Human Molecular Genetics
, 27
(3)
pp. 559-575.
10.1093/hmg/ddx416.
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Luben, Robert N;
Biradar, Mahantesh I;
Stuart, Kelsey V;
Hu, Ruiqi;
Sun, Zihan;
Li, Zheng;
Wang, Ningli;
... Khawaja, Anthony P; + view all
(2025)
GWAS for primary angle-closure glaucoma identifies loci related to ocular biometry and morphology.
Nature Communications
, 16
, Article 10003. 10.1038/s41467-025-64949-z.
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Maile, H;
Li, J-PO;
Gore, D;
Leucci, M;
Mulholland, P;
Hau, S;
Szabo, A;
... Pontikos, N; + view all
(2021)
Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review.
JMIR Medical Informatics
, 9
(12)
, Article e27363. 10.2196/27363.
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Marzban, Maryam;
Diaz-Torres, Santiago;
Thorp, Jackson;
Ong, Jue Sheng;
Khawaja, Anthony P;
Hammond, Christopher J;
Hysi, Pirro G;
... Gharahkhani, Puya; + view all
(2025)
Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms.
Human Molecular Genetics
, 34
(22)
pp. 1902-1911.
10.1093/hmg/ddae191.
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Menni, C;
Valdes, AM;
Freidin, MB;
Sudre, CH;
Nguyen, LH;
Drew, DA;
Ganesh, S;
... Spector, TD; + view all
(2020)
Real-time tracking of self-reported symptoms to predict potential COVID-19.
Nature Medicine
, 26
pp. 1037-1040.
10.1038/s41591-020-0916-2.
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Mishra, AV;
Vermeirsch, S;
Lin, S;
Martin-Gutierrez, MP;
Simcoe, M;
Pontikos, N;
Schiff, E;
... Mahroo, OA; + view all
(2024)
Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies.
Investigative Ophthalmology & Visual Science
, 65
(5)
, Article 9. 10.1167/iovs.65.5.9.
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Musolf, AM;
Haarman, AEG;
Luben, RN;
Ong, JS;
Patasova, K;
Trapero, RH;
Marsh, J;
... Bailey-Wilson, JE; + view all
(2023)
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Communications biology
, 6
(1)
, Article 6. 10.1038/s42003-022-04323-7.
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Pasquale, LR;
Khawaja, AP;
Wiggs, JL;
Kim, J;
Hysi, P;
Elze, T;
Lasky-Su, J;
... Zeleznik, O; + view all
(2023)
Metabolite and Lipid Biomarkers Associated With Intraocular Pressure and Inner Retinal Morphology: ¹H NMR Spectroscopy Results From the UK Biobank.
Investigative Ophthalmology & Visual Science
, 64
(11)
, Article 11. 10.1167/iovs.64.11.11.
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Patasova, Karina;
Haarman, Annechien EG;
Musolf, Anthony M;
Mahroo, Omar A;
Rahi, Jugnoo S;
Falchi, Mario;
Verhoeven, Virginie JM;
... Hysi, Pirro G; + view all
(2022)
Association analyses of rare variants identify two genes associated with refractive error.
PLoS One
, 17
(9)
, Article e0272379. 10.1371/journal.pone.0272379.
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Patasova, Karina;
Khawaja, Anthony P;
Wojciechowski, Robert;
Mahroo, Omar A;
Falchi, Mario;
Rahi, Jugnoo S;
Hammond, Chris J;
... UK Biobank Eye & Vision Consortium; + view all
(2022)
A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear.
Human Molecular Genetics
10.1093/hmg/ddac048.
(In press).
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Patasova, K;
Khawaja, AP;
Tamraz, B;
Williams, KM;
Mahroo, OA;
Freidin, M;
Solebo, AL;
... Hysi, PG; + view all
(2021)
Association Between Medication-Taking and Refractive Error in a Large General Population-Based Cohort.
Investigative Ophthalmology & Visual Science
, 62
(2)
, Article 15. 10.1167/iovs.62.2.15.
|
|
|
Paterson, EN;
Cardwell, C;
MacGillivray, TJ;
Trucco, E;
Doney, AS;
Foster, P;
Maxwell, AP;
... UK Biobank Eye and Vision Consortium; + view all
(2021)
Investigation of associations between retinal microvascular parameters and albuminuria in UK Biobank: a cross-sectional case-control study.
BMC Nephrology
, 22
, Article 72. 10.1186/s12882-021-02273-6.
|
|
|
Patsopoulos, NA;
Baranzini, SE;
Santaniello, A;
Shoostari, P;
Cotsapas, C;
Wong, G;
Beecham, AH;
... De Jager, PL; + view all
(2019)
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.
Science
, 365
(6460)
, Article eaav7188. 10.1126/science.aav7188.
|
|
|
Petzold, A;
Chua, SYL;
Khawaja, AP;
Keane, PA;
Khaw, PT;
Reisman, C;
Dhillon, B;
... Patel, PJ; + view all
(2020)
Retinal asymmetry in multiple sclerosis.
Brain
10.1093/brain/awaa361.
(In press).
|
|
|
Plotnikov, D;
Shah, RL;
Rodrigues, JN;
Cumberland, PM;
Rahi, JS;
Hysi, PG;
Atan, D;
... UK Biobank Eye and Vision Consortium, .; + view all
(2019)
A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus.
Human Genetics
, 138
(7)
pp. 723-737.
10.1007/s00439-019-02022-8.
|
|
Pozarickij, A;
Williams, C;
Hysi, PG;
Guggenheim, JA;
UK Biobank Eye and Vision Consortium;
(2019)
Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development.
Communications Biology
, 2
, Article 167. 10.1038/s42003-019-0387-5.
|
|
|
Ried, JS;
Jeff M, J;
Chu, AY;
Bragg-Gresham, JL;
Van Dongen, J;
Huffman, JE;
Ahluwalia, TS;
... Loos, RJ; + view all
(2016)
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape.
Nature Communications
, 7
, Article 13357. 10.1038/ncomms13357.
|
|
|
Schmidts, M;
Hou, Y;
Cortés, CR;
Mans, DA;
Huber, C;
Boldt, K;
Patel, M;
... Witman, GB; + view all
(2015)
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Nature Communications
, 6
, Article 7074. 10.1038/ncomms8074.
|
|
Shah, RL;
Li, Q;
Zhao, W;
Tedja, MS;
Tideman, JWL;
Khawaja, AP;
Fan, Q;
... CREAM Consortium, .; + view all
(2018)
A genome-wide association study of corneal astigmatism: The CREAM Consortium.
Molecular Vision
, 24
pp. 127-142.
|
|
Simcoe, M;
Valdes, A;
Liu, F;
Furlotte, NA;
Evans, DM;
Hemani, G;
Ring, SM;
... Hysi, PG; + view all
(2021)
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
Science Advances
, 7
(11)
, Article eabd1239. 10.1126/sciadv.abd1239.
|
|
|
Simcoe, MJ;
Khawaja, AP;
Mahroo, OA;
Hammond, CJ;
Hysi, PG;
UK Biobank Eye and Vision Consortium;
(2020)
The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects.
Investigative Ophthalmology & Visual Science
, 61
(11)
, Article 20. 10.1167/iovs.61.11.20.
|
|
|
Simcoe, MJ;
Khwaja, AP;
Eye, UKB;
Consortium, V;
Hysi, PG;
Hammond, CJ;
(2020)
Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic aetiology of ocular diseases.
Human Molecular Genetics
10.1093/hmg/ddaa155.
(In press).
|
|
|
Simcoe, MJ;
Weisschuh, N;
Wissinger, B;
Hysi, PG;
Hammond, CJ;
(2020)
Genetic Heritability of Pigmentary Glaucoma and Associations With Other Eye Phenotypes.
JAMA Ophthalmology
, 138
(3)
pp. 294-299.
10.1001/jamaophthalmol.2019.5961.
|
|
Springelkamp, H;
Iglesias, AI;
Mishra, A;
Höhn, R;
Wojciechowski, R;
Khawaja, AP;
Nag, A;
... MacGregor, S; + view all
(2017)
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.
Human Molecular Genetics
, 26
(2)
pp. 438-453.
10.1093/hmg/ddw399.
|
|
Surendran, P;
Stewart, ID;
Au Yeung, VPW;
Pietzner, M;
Raffler, J;
Wörheide, MA;
Li, C;
... Langenberg, C; + view all
(2022)
Rare and common genetic determinants of metabolic individuality and their effects on human health.
Nature Medicine
, 28
pp. 2321-2332.
10.1038/s41591-022-02046-0.
|
|
Tedja, MS;
Haarman, AEG;
Meester-Smoor, MA;
Kaprio, J;
Mackey, DA;
Guggenheim, JA;
Hammond, CJ;
... Zhou, X; + view all
(2019)
IMI - Myopia Genetics Report.
Investigative Ophthalmology & Visual Science
, 60
(3)
M89-M105.
10.1167/iovs.18-25965.
|
|
|
Tedja, MS;
Wojciechowski, R;
Hysi, PG;
Eriksson, N;
Furlotte, NA;
Verhoeven, VJM;
Iglesias, AI;
... Klaver, CCW; + view all
(2018)
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.
Nature Genetics
, 50
pp. 834-848.
10.1038/s41588-018-0127-7.
|
 |
|
van Koolwijk, LM;
Ramdas, WD;
Ikram, MK;
Jansonius, NM;
Pasutto, F;
Hysi, PG;
Macgregor, S;
... van Duijn, CM; + view all
(2012)
Common genetic determinants of intraocular pressure and primary open-angle glaucoma.
PLoS Genet
, 8
(5)
, Article e1002611. 10.1371/journal.pgen.1002611.
|
|
|
Vehof, J;
Hysi, PG;
Hammond, CJ;
(2017)
A Metabolome-Wide Study of Dry Eye Disease Reveals Serum Androgens as Biomarkers.
Ophthalmology
, 124
(4)
pp. 505-511.
10.1016/j.ophtha.2016.12.011.
|
|
Walter, K;
Min, JL;
Huang, J;
Crooks, L;
Memari, Y;
McCarthy, S;
Perry, JRB;
... Zhang, W; + view all
(2015)
The UK10K project identifies rare variants in health and disease.
Nature
, 526
(7571)
pp. 82-90.
10.1038/nature14962.
|
|
Warwick, Alasdair;
Curran, Katie;
Hamill, Barbra;
Stuart, Kelsey;
Khawaja, Anthony P;
Foster, Paul J;
Lotery, Andrew J;
... Peto, Tunde; + view all
(2023)
Correction: UK Biobank retinal imaging grading: methodology, baseline characteristics and findings for common ocular diseases.
[Corrigendum].
Eye
10.1038/s41433-022-02377-9.
|
|
Warwick, Alasdair N;
Curran, Katie;
Hamill, Barbra;
Stuart, Kelsey;
Khawaja, Anthony P;
Foster, Paul J;
Lotery, Andrew J;
... Peto, Tunde; + view all
(2022)
UK Biobank retinal imaging grading: methodology, baseline characteristics and findings for common ocular diseases.
Eye
10.1038/s41433-022-02298-7.
|
|
Williams, KM;
Hysi, PG;
Yonova-Doing, E;
Mahroo, OA;
Snieder, H;
Hammond, CJ;
(2017)
Phenotypic and genotypic correlation between myopia and intelligence.
Scientific Reports
, 7
, Article 45977. 10.1038/srep45977.
|
|
|
Xiong, Z;
Dankova, G;
Howe, LJ;
Lee, MK;
Hysi, PG;
de Jong, MA;
Zhu, G;
... Kayser, M; + view all
(2019)
Novel genetic loci affecting facial shape variation in humans.
eLife
, 8
, Article e49898. 10.7554/eLife.49898.
|
|
|
Xu, Z;
Hysi, P;
Khawaja, AP;
(2021)
Genetic Determinants of Intraocular Pressure.
Annual Review of Vision Science
10.1146/annurev-vision-031021-095225.
(In press).
|
|
Zarouchlioti, C;
Sanchez-Pintado, B;
Hafford Tear, NJ;
Klein, P;
Liskova, P;
Dulla, K;
Semo, M;
... Davidson, AE; + view all
(2018)
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.
The American Journal of Human Genetics
, 102
(4)
pp. 528-539.
10.1016/j.ajhg.2018.02.010.
|
|
|
Zebardast, N;
Sekimitsu, S;
Wang, J;
Elze, T;
Gharahkhani, P;
Cole, BS;
Lin, MM;
... International Glaucoma Genetics Consortium (IGGC); + view all
(2021)
Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank.
Ophthalmology
, 128
(9)
pp. 1300-1311.
10.1016/j.ophtha.2021.03.007.
|
|
Zeleznik, OA;
Kang, JH;
Lasky-Su, J;
Eliassen, AH;
Frueh, L;
Clish, CB;
Rosner, BA;
... Pasquale, LR; + view all
(2023)
Plasma metabolite profile for primary open-angle glaucoma in three US cohorts and the UK Biobank.
Nature Communications
, 14
(1)
, Article 2860. 10.1038/s41467-023-38466-w.
|
|
|
Zhang, B;
Shweikh, Y;
Khawaja, AP;
Gallacher, J;
Bauermeister, S;
Foster, PJ;
UKBiobank Eye and Vision Consortium;
(2019)
Associations with Corneal Hysteresis in a Population Cohort: Results from 96 010 UK Biobank Participants.
Ophthalmology
, 126
(11)
pp. 1500-1510.
10.1016/j.ophtha.2019.06.029.
|
|
