Browse by UCL people
Group by: Type | Date
Number of items: 26.
2021
100,000 Genomes Project Pilot Investigators;
Smedley, D;
Smith, KR;
Martin, A;
Thomas, EA;
McDonagh, EM;
Cipriani, V;
... Caulfield, M; + view all
(2021)
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report.
New England Journal of Medicine
, 385
(20)
pp. 1868-1880.
10.1056/NEJMoa2035790.
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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.
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2020
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Bourinaris, T;
Smedley, D;
Cipriani, V;
Sheikh, I;
Athanasiou-Fragkouli, A;
Chinnery, P;
Morris, H;
... Tucci, A; + view all
(2020)
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
European Journal of Human Genetics
, 28
pp. 1763-1768.
10.1038/s41431-020-00720-w.
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Cipriani, V;
Lores-Motta, L;
He, F;
Fathalla, D;
Tilakaratna, V;
McHarg, S;
Bayatti, N;
... Clark, SJ; + view all
(2020)
Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.
Nature Communications
, 11
(1)
10.1038/s41467-020-14499-3.
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Cipriani, V;
Pontikos, N;
Arno, G;
Sergouniotis, PI;
Lenassi, E;
Thawong, P;
Danis, D;
... Smedley, D; + view all
(2020)
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Genes
, 11
(4)
, Article 460. 10.3390/genes11040460.
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2019
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Carnt, NA;
Cipriani, V;
Stapleton, FJ;
Calder, V;
Willcox, MD;
(2019)
Association study of single nucleotide polymorphisms in IL-10 and IL-17 genes with the severity of microbial keratitis.
Contact Lens and Anterior Eye
, 42
(6)
pp. 658-661.
10.1016/j.clae.2019.06.007.
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Köhler, S;
Carmody, L;
Vasilevsky, N;
Jacobsen, JOB;
Danis, D;
Gourdine, J-P;
Gargano, M;
... Robinson, PN; + view all
(2019)
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Research
, 47
(D1)
D1018-D1027.
10.1093/nar/gky1105.
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Silva, RS;
Arno, G;
Cipriani, V;
Pontikos, N;
Defoort-Dhellemmes, S;
Kalhoro, A;
Carss, KJ;
... Webster, AR; + view all
(2019)
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Human Mutation
, 40
(5)
pp. 578-587.
10.1002/humu.23715.
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2018
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Welikala, RA;
Fraz, MM;
Habib, MM;
Daniel-Tong, S;
Yates, M;
Fosters, PJ;
Whincup, PH;
... Barman, SA; + view all
(2018)
Automated Quantification of Retinal Vessel Morphometry in the UK Biobank Cohort.
In:
Proceedings of the Seventh International Conference on Image Processing Theory, Tools and Applications (IPTA).
IEEE: Montreal, QC, Canada.
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2017
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Borman, AD;
Rachitskaya, A;
Suzani, M;
Sisk, RA;
Ahmed, ZM;
Holder, GE;
Cipriani, V;
... Moore, AT; + view all
(2017)
Benign Yellow Dot Maculopathy: A New Macular Phenotype.
Ophthalmology
, 124
(7)
pp. 1004-1013.
10.1016/j.ophtha.2017.02.026.
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Cipriani, V;
Hogg, RE;
Sofat, R;
Moore, AT;
Webster, AR;
Yates, JRW;
Fletcher, AE;
(2017)
Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration.
JAMA Ophthalmology
, 135
(9)
pp. 909-916.
10.1001/jamaophthalmol.2017.2191.
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Cipriani, V;
Kalhoro, A;
Arno, G;
Silva, RS;
Pontikos, N;
Puech, V;
McClements, ME;
... Puech, B; + view all
(2017)
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.
Ophthalmic Genetics
10.1080/13816810.2017.1289544.
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Cipriani, V;
Silva, RS;
Arno, G;
Pontikos, N;
Kalhoro, A;
Valeina, S;
Inashkina, I;
... Moore, AT; + view all
(2017)
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.
Scientific Reports
, 7
, Article 7512. 10.1038/s41598-017-06387-6.
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Grassmann, F;
Heid, IM;
Weber, BHF;
International AMD Genomics Consortium (IAMDGC);
(2017)
Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.
Genetics
, 205
(2)
pp. 919-924.
10.1534/genetics.116.195966.
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Grassmann, F;
Kiel, C;
Zimmermann, ME;
Gorski, M;
Grassmann, V;
Stark, K;
Heid, IM;
(2017)
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.
Genome Medicine
, 9
, Article 29. 10.1186/s13073-017-0418-0.
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Köhler, S;
Vasilevsky, NA;
Engelstad, M;
Foster, E;
McMurry, J;
Aymé, S;
Baynam, G;
... Robinson, PN; + view all
(2017)
The Human Phenotype Ontology in 2017.
Nucleic Acids Research
, 45
(D1)
D865-D876.
10.1093/nar/gkw1039.
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Pontikos, N;
Yu, J;
Moghul, I;
Withington, L;
Blanco-Kelly, F;
Vulliamy, T;
Wong, TL;
... Plagnol, V; + view all
(2017)
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Bioinformatics
, 33
(15)
pp. 2421-2423.
10.1093/bioinformatics/btx147.
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2016
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Bunce, C;
Quartilho, A;
Freemantle, N;
Doré, CJ;
Ophthalmic Statistics Group;
(2016)
Ophthalmic statistics note 8: missing data - exploring the unknown.
[Editorial comment].
British Journal of Ophthalmology
, 100
(3)
pp. 291-294.
10.1136/bjophthalmol-2015-307821.
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Chan, MP;
Grossi, CM;
Khawaja, AP;
Yip, JL;
Khaw, KT;
Patel, PJ;
Khaw, PT;
... UK Biobank Eye and Vision Consortium; + view all
(2016)
Associations with Intraocular Pressure in a Large Cohort: Results from the UK Biobank.
Ophthalmology
, 123
(4)
pp. 771-782.
10.1016/j.ophtha.2015.11.031.
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Polley, S;
Cipriani, V;
Khan, JC;
Shahid, H;
Moore, AT;
Yates, JRW;
Hollox, EJ;
(2016)
Analysis of copy number variation at DMBT1 and age-related macular degeneration.
BMC Medical Genetics
, 17
, Article 44. 10.1186/s12881-016-0311-5.
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2015
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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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Saunders, LJ;
Zhu, H;
Bunce, C;
Doré, CJ;
Freemantle, N;
Crabb, DP;
(2015)
Ophthalmic Statistics Note 5: Diagnostic Tests-sensitivity and Specificity.
[Review].
British Journal of Ophthalmology
, 99
(9)
pp. 1168-1170.
10.1136/bjophthalmol-2014-306055.
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Shweikh, Y;
Ko, F;
Chan, MP;
Patel, PJ;
Muthy, Z;
Khaw, PT;
Yip, J;
... Foster, PJ; + view all
(2015)
Measures of socioeconomic status and self-reported glaucoma in the UK Biobank cohort.
Eye
, 29
(10)
pp. 1360-1367.
10.1038/eye.2015.157.
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2014
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Nash, R;
Bunce, C;
Freemantle, N;
Doré, CJ;
Rogers, CA;
(2014)
Ophthalmic Statistics Note 4: analysing data from randomised controlled trials with baseline and follow-up measurements.
British Journal of Ophthalmology
, 98
(11)
1467 - 1469.
10.1136/bjophthalmol-2014-305614.
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2012
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Cipriani, V;
Matharu, BK;
Khan, JC;
Shahid, H;
Stanton, CM;
Hayward, C;
Wright, AF;
... Yates, JR; + view all
(2012)
Genetic variation in complement regulators and susceptibility to age-related macular degeneration.
Immunobiology
, 217
(2)
158 - 161.
10.1016/j.imbio.2011.09.002.
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2009
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Cipriani, V;
(2009)
Genetic association studies in the presence of different family types: a meta-analytic approach.
Doctoral thesis , UNSPECIFIED.
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