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Research

Publications: Dr Valentina Cipriani

Kelly C, Szabo A, Pontikos N, Arno G, Robinson PN, Jacobsen JOB, Smedley D, Cipriani V ( 2022 ) . Phenotype-aware prioritisation of rare Mendelian disease variants . Trends in Genetics vol. 38 , ( 12 ) 1271 - 1283 .
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A et al. ( 2022 ) . Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy . Genetics in Medicine vol. 24 , ( 10 ) 2079 - 2090 .
Jacobsen JOB, Kelly C, Cipriani V, Robinson PN, Smedley D ( 2022 ) . Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases . Briefings in bioinformatics vol. 23 , ( 5 )
Jacobsen JOB, Kelly C, Cipriani V, Research Consortium GE, Mungall CJ, Reese J, Danis D, Robinson PN et al. ( 2022 ) . Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease . Human Mutation vol. 43 , ( 8 ) 1071 - 1081 .
Chen Z, Cipriani V, Zhang D, Tucci A, Vestito L, Smedley D, Houlden H, Botia J et al. ( 2022 ) . 022 Functional genomics and transcriptomics further characterise and potentially improve diagnostic yield of hereditary ataxias . Journal of Neurology Neurosurgery & Psychiatry vol. 93 , ( 6 ) a107.3 - a1a108 .
Cipriani V, Lores-Motta L, Tierney A, Griffiths J, van Beek A, Koertvely E, Jongerius I, Kuijpers T et al. ( 2022 ) . Beyond factor H: Impact of genetic-variants associated with age-related macular degeneration on circulating FHR protein levels . MOLECULAR IMMUNOLOGY . vol. 141 , 134 - 135 .
Kuan V, Warwick A, Hingorani A, Tufail A, Cipriani V, Burgess S, Sofat R ( 2021 ) . Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors with Age-Related Macular Degeneration: A Mendelian Randomization Study . JAMA Ophthalmology vol. 139 , ( 12 ) 1299 - 1306 .
Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G et al. ( 2021 ) . 100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report . New England Journal of Medicine vol. 385 , ( 20 ) 1868 - 1880 .
Cipriani V, Tierney A, Griffiths JR, Zuber V, Sergouniotis PI, Yates JRW, Moore AT, Bishop PN et al. ( 2021 ) . 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 . American Journal of Human Genetics vol. 108 , ( 8 ) 1385 - 1400 .
D'Angelo E, Espinosa I, Cipriani V, Szafranska J, Barbareschi M, Prat J ( 2021 ) . Atypical Endometrial Hyperplasia, Low-grade: "much ADO about Nothing" . American Journal of Surgical Pathology vol. 45 , ( 7 ) 988 - 996 .
Kuan V, Warwick A, Hingorani A, Tufail A, Cipriani V, Burgess S, Sofat R, IAMDGC IAMDGC ( 2021 ) . Effects of smoking, alcohol, blood pressure, body mass index and glycaemic risk factors on advanced age-related macular degeneration: a mendelian randomisation study . INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE . vol. 62 ,
Smedley D, Abbs S, Arno G, Baple E, Barnes M, Beales P, Bitner-Glindzicz M, Black G et al. ( 2020 ) . The impact of the 100,000 Genomes Project on rare disease in national healthcare . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 28 , 54 - 55 .
Bourinaris T, Smedley D, Cipriani V, Sheikh I, Athanasiou-Fragkouli A, Chinnery P, Morris H, Real R et al. ( 2020 ) . Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project . European Journal of Human Genetics
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 )
Cipriani V, Lorés-Motta L, He F, Fathalla D, Tilakaratna V, McHarg S, Bayatti N, Acar İE 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 )
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 .
Cipriani V, Lores-Motta L, Fathalla D, Moore A, Yates J, Morgan BP, den Hollander A, Bishop P et al. ( 2019 ) . FACTOR H-RELATED PROTEIN 4 DRIVES COMPLEMENT DYSREGULATION IN AGE-RELATED MACULAR DEGENERATION . MOLECULAR IMMUNOLOGY . vol. 114 , 420 - 420 .
D’Angelo E, Espinosa I, Cipriani V, Barbareschi M, Prat J ( 2019 ) . 257 Atypical endometrial hyperplasia, low-grade: ‘much ADO About nothing’ . International Journal of Gynecological Cancer . Conference: E-Poster viewings vol. 29 ,
Arno G, Silva RS, Pontikos N, Cipriani V, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL et al. ( 2019 ) . A recurrent intergenic variant upstream of PRDM13 causes autosomal dominant progressive bifocal chorioretinal atrophy in two unrelated pedigrees . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 27 , 60 - 61 .
Silva RS, Kraft K, Arno G, Cipriani V, Heinrich V, Pontikos N, Puech B, Moore A et al. ( 2019 ) . Congenital Macular Dystrophy is caused by non-coding duplications downstream of the IRXA cluster . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 27 , 866 - 867 .
Cipriani V, de Motta LL, He F, Fathalla D, McHarg S, Bayatti N, Acar IE, Hoyng CCB et al. ( 2019 ) . Factor H-Related Protein 4 (FHR-4) drives complement dysregulation in age-related macular degeneration . INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE . vol. 60 ,
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 .
Silva RS, Kraft K, Arno G, Cipriani V, Heinrich V, Pontikos N, Puech B, Moore A et al. ( 2019 ) . Congenital Macular Dystrophy is caused by non-coding duplications downstream of IRXAlocus . GENETICS RESEARCH . vol. 101 ,
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 .
Silva RS, Kraft K, Arno G, Heinrich V, Pontikos N, Cipriani V, Puech B, Moore AT et al. ( 2018 ) . CRISPR-derived mouse model of North Carolina Macular Dystrophy reveals in trans tissue-specific upregulation of PRDM13 . INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE . vol. 59 ,
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 )
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 .
Grassmann F, Kiel C, Zimmermann ME, Gorski M, Grassmann V, Stark K, International AMD Genomics Consortium (IAMDGC), Heid IM et al. ( 2017 ) . Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits . Genome Med vol. 9 , ( 1 )
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 .
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 .
Cipriani V, Pontikos N, Arno G, Webster AR, Moore AT, Carss KJ, Raymond LF, Danis D et al. ( 2017 ) . An Improved Bioinformatics Tool for Rare Disease Variant Prioritization: The Exomiser 9.0.1 in Clinical Practice . HUMAN HEREDITY . vol. 83 , 5 - 6 .
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 .
Pontikos N, Yu J, Blanco-Kelly F, Vulliamy T, Wong TL, Murphy C, Cipriani V, Fiorentino A et al. ( 2016 ) . Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data .
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 )
Chan MPY, Grossi CM, Khawaja AP, Yip JLY, Khaw K-T, Patel PJ, Khaw PT, Morgan JE et al. ( 2016 ) . Associations with Intraocular Pressure in a Large Cohort: Results from the UK Biobank . Ophthalmology vol. 123 , ( 4 ) 771 - 782 .
Patel PJ, Foster PJ, Grossi CM, Keane PA, Ko F, Lotery A, Peto T, Reisman CA et al. ( 2016 ) . Spectral-Domain Optical Coherence Tomography Imaging in 67 321 Adults: Associations with Macular Thickness in the UK Biobank Study . Ophthalmology vol. 123 , ( 4 ) 829 - 840 .
Bunce C, Quartilho A, Freemantle N, Doré CJ, Ophthalmic Statistics Group ( 2016 ) . Ophthalmic statistics note 8: missing data--exploring the unknown . Br J Ophthalmol vol. 100 , ( 3 ) 291 - 294 .
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 .
Shweikh Y, Ko F, Chan MPY, Patel PJ, Muthy Z, Khaw PT, Yip J, Strouthidis N et al. ( 2015 ) . Measures of socioeconomic status and self-reported glaucoma in the U.K. Biobank cohort . Eye (Lond) vol. 29 , ( 10 ) 1360 - 1367 .
Saunders LJ, Zhu H, Bunce C, Doré CJ, Freemantle N, Crabb DP, Ophthalmic Statistics Group ( 2015 ) . Ophthalmic statistics note 5: diagnostic tests—sensitivity and specificity . Br J Ophthalmol vol. 99 , ( 9 ) 1168 - 1170 .
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 .
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 vol. 10 , ( 10 )
MacGillivray TJ, Cameron JR, Zhang Q, El-Medany A, Mulholland C, Sheng Z, Dhillon B, Doubal FN et al. ( 2015 ) . Suitability of UK Biobank Retinal Images for Automatic Analysis of Morphometric Properties of the Vasculature . PLoS One vol. 10 , ( 5 )
Nash R, Bunce C, Freemantle N, Doré CJ, Rogers CA, Ophthalmic Statistics Group ( 2014 ) . Ophthalmic Statistics Note 4: analysing data from randomised controlled trials with baseline and follow-up measurements . Br J Ophthalmol vol. 98 , ( 11 ) 1467 - 1469 .
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 .
Shahid H, Khan J, Cipriani V, Sepp T, Matharu B, Bunce C, Harding S, Clayton D et al. ( 2011 ) . AGE-RELATED MACULAR DEGENERATION: THE IMPORTANCE OF FAMILY HISTORY AS A RISK FACTOR . CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY . vol. 39 , 16 - 16 .
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 .