Publications:  Ms Valentina Cipriani

Cipriani V, Lorés-Motta L, He F, Fathalla D, Tilakaratna V, McHarg S, Bayatti N, Acar ¿E et al.(2020). Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration. Nature Communications vol. 11, (1)

Cipriani V, Pontikos N, Arno G, Sergouniotis PI, Lenassi E, Thawong P, Danis D, Michaelides M et al.(2020). An improved phenotype-driven tool for rare mendelian variant prioritization: Benchmarking exomiser on real patient whole-exome data. Genes vol. 11, (4)

Shefchek KA, Harris NL, Gargano M, Matentzoglu N, Unni D, Brush M, Keith D, Conlin T et al.(2020). The Monarch Initiative in 2019: An integrative data and analytic platform connecting phenotypes to genotypes across species. Nucleic Acids Research vol. 48, (D1) D704-D715.

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 vol. 42, (6) 658-661.

Silva RS, Arno G, Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL et al.(2019). Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. Human Mutation vol. 40, (5) 578-587.

Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL et al.(2019). Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Research vol. 47, (D1) D1018-D1027.

Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M et al.(2017). Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus. Scientific Reports vol. 7, (1)

Cipriani V, Kalhoro A, Arno G, Silva RS, Pontikos N, Puech V, McClements ME, Hunt DM et al.(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 vol. 38, (6) 511-519.

Dev Borman A, Rachitskaya A, Suzani M, Sisk RA, Ahmed ZM, Holder GE, Cipriani V, Arno G et al.(2017). Benign Yellow Dot Maculopathy: A New Macular Phenotype. Ophthalmology vol. 124, (7) 1004-1013.

Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C et al.(2017). Phenopolis: An open platform for harmonization and analysis of genetic and phenotypic data. Bioinformatics vol. 33, (15) 2421-2423.

Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research vol. 45, (D1) D865-D876.

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 Med Genet vol. 17, (1)

Fritsche LG, Igl W, Bailey JNC, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ et al.(2016). A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet vol. 48, (2) 134-143.

Cipriani V, Quartilho A, Bunce C, Freemantle N, Doré CJ, Ophthalmic Statistics Group(2015). Ophthalmic statistics note 7: multiple hypothesis testing—to adjust or not to adjust. Br J Ophthalmol vol. 99, (9) 1155-1157.

Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR(2014). Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation. Ophthalmology vol. 121, (2) 580-587.

Zhan X, Larson DE, Wang C, Koboldt DC, Sergeev YV, Fulton RS, Fulton LL, Fronick CC et al.(2013). Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet vol. 45, (11) 1375-1379.

Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S et al.(2013). Seven new loci associated with age-related macular degeneration. Nature Genetics vol. 45, (4) 433-439.

Shahid H, Khan JC, Cipriani V, Sepp T, Matharu BK, Bunce C, Harding SP, Clayton DG et al.(2012). Age-related macular degeneration: The importance of family history as a risk factor. British Journal of Ophthalmology vol. 96, (3) 427-431.

Khandhadia S, Cipriani V, Yates JRW, Lotery AJ(2012). Age-related macular degeneration and the complement system. Immunobiology vol. 217, (2) 127-146.

Sofat R, Casas JP, Webster AR, Bird AC, Mann SS, Yates JRW, Moore AT, Sepp T et al.(2012). Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Int J Epidemiol vol. 41, (1) 250-262.

Cipriani V, Matharu BK, Khan JC, Shahid H, Stanton CM, Hayward C, Wright AF, Bunce C et al.(2012). Genetic variation in complement regulators and susceptibility to age-related macular degeneration. Immunobiology vol. 217, (2) 158-161.

Cipriani V, Leung HT, Plagnol V, Bunce C, Khan JC, Shahid H, Moore AT, Harding SP et al.(2012). Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Human Molecular Genetics vol. 21, (18) 4138-4150.

Cipriani V, Matharu BK, Khan JC, Shahid H, Hayward C, Wright AF, Armbrecht AM, Dhillon B et al.(2012). No evidence of association between complement factor i genetic variant rs10033900 and age-related macular degeneration. European Journal of Human Genetics vol. 20, (1) 1-2.

McKay GJ, Patterson CC, Chakravarthy U, Dasari S, Klaver CC, Vingerling JR, Ho L, de Jong PTVM et al.(2011). Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Hum Mutat vol. 32, (12) 1407-1416.

McKay GJ, Silvestri G, Chakravarthy U, Dasari S, Fritsche LG, Weber BH, Keilhauer CN, Klein ML et al.(2011). Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. Am J Epidemiol vol. 173, (12) 1357-1364.

Cipriani V, Mannucci PM, Ardissino D, Ferrario M, Corsini G, Merlini PA, Notarangelo F, Lina D et al.(2010). Familial aggregation of early-onset myocardial infarction. Eur J Intern Med vol. 21, (6) 511-515.