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Author Details

Valentina Cipriani
William Harvey Research Institute, Queen Mary University of London
2002
46
21
PMIDPaper TitleJournal TitlePublished Year
37403762Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.Genet Med2023
37650884Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.Genet Med2023
35934592Phenotype-aware prioritisation of rare Mendelian disease variants.Trends Genet2022
35391505Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.Hum Mutat2022
35595299Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.Brief Bioinform2022
34260948Beyond 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.Am J Hum Genet2021
34734970Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration: A Mendelian Randomization Study.JAMA Ophthalmol2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34105519Atypical Endometrial Hyperplasia, Low-grade: "Much ADO About Nothing".Am J Surg Pathol2021
32340307An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.Genes (Basel)2020
32934340Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.Eur J Hum Genet2020
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
30158665Y chromosome mosaicism is associated with age-related macular degeneration.Eur J Hum Genet2019
31280929Association study of single nucleotide polymorphisms in IL-10 and IL-17 genes with the severity of microbial keratitis.Cont Lens Anterior Eye2019
27899602The Human Phenotype Ontology in 2017.Nucleic Acids Res2017
28366503Benign Yellow Dot Maculopathy: A New Macular Phenotype.Ophthalmology2017
28334266Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.Bioinformatics2017
28750115Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration.JAMA Ophthalmol2017
28635424Genome-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 Genet2017
28790370Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.Sci Rep2017
26691988A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.Nat Genet2016
27416785Analysis of copy number variation at DMBT1 and age-related macular degeneration.BMC Med Genet2016
26112870Ophthalmic statistics note 7: multiple hypothesis testingâ¿¿to adjust or not to adjust.Br J Ophthalmol2015
24199935Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.Ophthalmology2014
23455636Seven new loci associated with age-related macular degeneration.Nat Genet2013
24036949Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.Nat Genet2013
21892719Clinical applications of dynamic susceptibility contrast perfusion-weighted MR imaging in brain tumours.Radiol Med2012
22694956Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.Hum Mol Genet2012
22253316Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.Int J Epidemiol2012
22387313N-glycosylation of the mammalian dipeptidyl aminopeptidase-like protein 10 (DPP10) regulates trafficking and interaction with Kv4 channels.Int J Biochem Cell Biol2012
22024702Genetic variation in complement regulators and susceptibility to age-related macular degeneration.Immunobiology2012
21989362No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration.Eur J Hum Genet2012
22193558Proteome profile and biological activity of caprine, bovine and human milk fat globules.Mol Biosyst2012
21868123Age-related macular degeneration and the complement system.Immunobiology2012
21865200Age-related macular degeneration: the importance of family history as a risk factor.Br J Ophthalmol2012
21498624Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people.Am J Epidemiol2011
21882290Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.Hum Mutat2011
21111936Familial aggregation of early-onset myocardial infarction.Eur J Intern Med2010
19141067Selective white matter involvement in a patient with late onset Krabbe disease: MR, MR spectroscopy, and diffusion tensor study.J Neuroimaging2009
19670335Long-term effect of platelet lysate on primary fibroblasts highlighted with a proteomic approach.J Tissue Eng Regen Med2009
18626293Autobiography as a tool for self-construction: a study of patients with mental disorders.J Nerv Ment Dis2008
19248683Use of preoperative and intraoperative magnetic resonance tractography in intracranial tumor surgery.Clin Neurosurg2008
17891343Role of magnetic resonance tractography in the preoperative planning and intraoperative assessment of patients with intra-axial brain tumours.Radiol Med2007
17149562Neuroradiology and headaches.J Headache Pain2006
12829985Moderate alcohol consumption increases oxidative stress in patients with chronic hepatitis C.Hepatology2003
11755315Lipid peroxidation contributes to immune reactions associated with alcoholic liver disease.Free Radic Biol Med2002
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Collaborators

UCL Institute of Ophthalmology, University College London
Co-authored papers 19
TheScripps Research Institute
Co-authored papers 14
Institute of Ophthalmology, University College London
Co-authored papers 13
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 10
University of Southampton
Co-authored papers 8
Institute of Ophthalmology, University College London
Co-authored papers 7
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 7
Moorfields Eye Hospital, UK UCL Institute of Ophthalmology, University College London
Co-authored papers 7
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William Harvey Research Institute, Queen Mary University of London
Co-authored papers 7
Royal Marsden NHS Foundation Trust
Co-authored papers 6
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Regeneron Pharmaceuticals Inc.
Co-authored papers 6
Erasmus Medical Center
Co-authored papers 6
Jules Stein Eye Institute
Co-authored papers 6
Co-authored papers 6
National Eye Institute, National Institutes of Health
Co-authored papers 6
The University of Melbourne
Co-authored papers 5
Casey Eye Institute, Oregon Health & Science University
Co-authored papers 5
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Royal Victorian Eye and Ear Hospital, the University of Melbourne
Co-authored papers 5
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University of Manchester
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Institute of Ophthalmology, University College London
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College of Animal Science and Technology, Guangxi University
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School of Clinical Medicine, University of Cambridge
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American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
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Erasmus University Medical Center
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University of Massachusetts Chan Medical School
Co-authored papers 3
Karolinska Institutet
Co-authored papers 3