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List of works by Valentina Cipriani

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

Age-related macular degeneration and the complement system

scientific article published on July 23, 2011

Age-related macular degeneration: the importance of family history as a risk factor

article

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

scientific article published on 23 April 2020

Analysis of copy number variation at DMBT1 and age-related macular degeneration

scientific article

Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration.

scientific article

Association study of single nucleotide polymorphisms in IL-10 and IL-17 genes with the severity of microbial keratitis

scientific article published on 05 July 2019

Autobiography as a tool for self-construction: a study of patients with mental disorders

scientific article

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

scientific article published on 30 March 2017

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype

scientific article published on 13 January 2012

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

scientific article published on 08 August 2017

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies

scientific article published on 12 September 2011

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Familial aggregation of early-onset myocardial infarction

scientific article published on 25 August 2010

Genetic variation in complement regulators and susceptibility to age-related macular degeneration

scientific article published on 5 October 2011

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3

scientific article

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.

scientific article

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

scientific article published on 15 September 2020

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

scientific article published on 15 September 2013

Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration

scientific article published on 07 February 2020

Lipid peroxidation contributes to immune reactions associated with alcoholic liver disease ⬇️

scientific article published on January 1, 2002

Long-term effect of platelet lysate on primary fibroblasts highlighted with a proteomic approach.

scientific article published in October 2009

Moderate alcohol consumption increases oxidative stress in patients with chronic hepatitis C.

scientific article published in July 2003

N-glycosylation of the mammalian dipeptidyl aminopeptidase-like protein 10 (DPP10) regulates trafficking and interaction with Kv4 channels ⬇️

scientific article published on February 22, 2012

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation

scientific article published on 5 November 2013

Neuroradiology and headaches

scientific article

No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration

scientific article published on 12 October 2011

Ophthalmic statistics note 7: multiple hypothesis testing—to adjust or not to adjust

scientific article

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

scientific article

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Proteome profile and biological activity of caprine, bovine and human milk fat globules

scientific article published in 2012

Selective white matter involvement in a patient with late onset Krabbe disease: MR, MR spectroscopy, and diffusion tensor study

scientific article published on 23 December 2008

Seven new loci associated with age-related macular degeneration

scientific article

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

scientific article published on 01 January 2020

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy

scientific article published on 14 February 2019

Use of preoperative and intraoperative magnetic resonance tractography in intracranial tumor surgery

scientific article published on 01 January 2008

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people

scientific article

Y chromosome mosaicism is associated with age-related macular degeneration

scientific article published on 29 August 2018

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