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Valentina Cipriani, PhD
Valentina Cipriani, PhD
Senior Lecturer in Statistical Genomics; Queen Mary University London; University College London
Verified email at qmul.ac.uk - Homepage
Title
Cited by
Cited by
Year
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
LG Fritsche, W Igl, JNC Bailey, F Grassmann, S Sengupta, ...
Nature genetics 48 (2), 134-143, 2016
13962016
Seven new loci associated with age-related macular degeneration
Nature genetics 45 (4), 433-439, 2013
8532013
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
7982017
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...
Nucleic acids research 47 (D1), D1018-D1027, 2019
6672019
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
3642021
Age-related macular degeneration and the complement system
S Khandhadia, V Cipriani, JRW Yates, AJ Lotery
Immunobiology 217 (2), 127-146, 2012
2132012
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
KA Shefchek, NL Harris, M Gargano, N Matentzoglu, D Unni, M Brush, ...
Nucleic acids research 48 (D1), D704-D715, 2020
1992020
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
X Zhan, DE Larson, C Wang, DC Koboldt, YV Sergeev, RS Fulton, ...
Nature genetics 45 (11), 1375-1379, 2013
1892013
Evidence of association of APOE with age‐related macular degeneration ‐ a pooled analysis of 15 studies
GJ McKay, CC Patterson, U Chakravarthy, S Dasari, CC Klaver, ...
Human mutation 32 (12), 1407-1416, 2011
1652011
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people
GJ McKay, G Silvestri, U Chakravarthy, S Dasari, LG Fritsche, BH Weber, ...
American journal of epidemiology 173 (12), 1357-1364, 2011
1132011
Age-related macular degeneration: the importance of family history as a risk factor
H Shahid, JC Khan, V Cipriani, T Sepp, BK Matharu, C Bunce, ...
British Journal of Ophthalmology 96 (3), 427-431, 2012
1092012
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype
R Sofat, JP Casas, AR Webster, AC Bird, SS Mann, JRW Yates, AT Moore, ...
International journal of epidemiology 41 (1), 250-262, 2012
1092012
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3
V Cipriani, HT Leung, V Plagnol, C Bunce, JC Khan, H Shahid, AT Moore, ...
Human molecular genetics 21 (18), 4138-4150, 2012
1032012
Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration
V Cipriani, L Lorés-Motta, F He, D Fathalla, V Tilakaratna, S McHarg, ...
Nature communications 11 (1), 778, 2020
862020
Y chromosome mosaicism is associated with age-related macular degeneration
F Grassmann, C Kiel, AI den Hollander, DE Weeks, A Lotery, V Cipriani, ...
European Journal of Human Genetics 27 (1), 36-41, 2019
572019
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data
N Pontikos, J Yu, I Moghul, L Withington, F Blanco-Kelly, T Vulliamy, ...
Bioinformatics 33 (15), 2421-2423, 2017
452017
An improved phenotype-driven tool for rare mendelian variant prioritization: benchmarking exomiser on real patient whole-exome data
V Cipriani, N Pontikos, G Arno, PI Sergouniotis, E Lenassi, P Thawong, ...
Genes 11 (4), 460, 2020
422020
Genetic variation in complement regulators and susceptibility to age-related macular degeneration
V Cipriani, BK Matharu, JC Khan, H Shahid, CM Stanton, C Hayward, ...
Immunobiology 217 (2), 158-161, 2012
342012
Association of smoking, alcohol consumption, blood pressure, body mass index, and glycemic risk factors with age-related macular degeneration: a Mendelian randomization study
V Kuan, A Warwick, A Hingorani, A Tufail, V Cipriani, S Burgess, R Sofat, ...
JAMA ophthalmology 139 (12), 1299-1306, 2021
332021
Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations
V Cipriani, A Tierney, JR Griffiths, V Zuber, PI Sergouniotis, JRW Yates, ...
The American Journal of Human Genetics 108 (8), 1385-1400, 2021
322021
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