Eleonora Mangano

She has gained expertise in bioinformatics and statistical analysis of gene expression and genotyping data obtained through Affymetrix microarray experiments and Next Generation Sequencing in solid tumors and rare diseases. She is now focusing on massively single cell RNA sequencing (scRNA-seq), SNVs detection in exome sequencing and whole genome sequencing data analysis in the field of autoimmune, rare diseases and oncology. She is, also, working on improving strategies for the interpretation of multiple "omics" data (such as genetic variants and gene expression) using molecular interactions and biological pathways.

Transcriptomics, Genomics, Bioinformatics

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells.

The Genome-wide impact of Nipblb loss-of-function on Zebrafish gene expression

Systematic analysis of the involvement of DNA tandem repeats in Amyotrophic lateral sclerosis from Whole Genome Sequencing data

Genetic heterogeneity & di/oligogenic inheritance involvement in variable expressivity of Noonan syndrome

Disease associated tandem repeat genotyping from NGS target sequencing data

Analysis of cortical gene expression variability in a mouse model of X-linked Infantile spsms syndrome

Analysis of DNA tandem repeats in ALS from Whole Genome Sequencing: Role of FRA10Ac1 gene repeat expansion in ALS

A census of tandemly repeated polymorphic loci in genic regions through the comparative integration of human genome assemblies

The glucose and lipid metabolism reprogramming is grade-dependent in clear cell renal cell carcinoma primary cultures and is targetable to modulate cell viability and proliferation

Identification and characterization of multiple sclerosis associated loci in the continental italian population

Major Action of Endogenous Lysyl Oxidase in Clear Cell Renal Cell Carcinoma Progression and Collagen Stiffness Revealed by Primary Cell Cultures

Next generation sequencing of pooled samples: Guideline for variants' filtering

Integrative transcriptomic and protein analysis of human bronchial BEAS-2B exposed to seasonal urban particulate matter.

S561f cdkal1 variant, identified by whole exome sequencing of congenital hyperinsulinism patients, affects insulin content and release in ins1-e cells

Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns

Target resequencing of regions associated with multiple sclerosis in the Italian population

Gene expression profiling of human bronchial epithelial cells exposed to seasonal Milan particulate matter

Health Risk Assessment for Air Pollutants: Alterations in Lung and Cardiac Gene Expression in Mice Exposed to Milano Winter Fine Particulate Matter (PM2.5)

EXCAVATOR: Detecting copy number variants from whole-exome sequencing data

Comprehensive Genomic Characterization of Cutaneous Malignant Melanoma Cell Lines Derived from Metastatic Lesions by Whole-Exome Sequencing and SNP Array Profiling

Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Genetic Analysis of Italian Patients with Congenital Hyperinsulinism of Infancy

Gene expression profiling of A549 cells exposed to Milan PM2.5

Gene expression profiling of A549 cells exposed to Milan PM2.5

Renal cell carcinoma primary cultures maintain genomic and phenotypic profile of parental tumor tissues.

Molecular Portrait of Clear Cell Renal Cell Carcinoma: An Integrative Analysis of Gene Expression Profiling and Genomic Copy Number

Integration of gene and miRNA expression profiles in clear cell renal carcinoma cell lines and relationship with VHL gene status

DNA copy-number abnormalities do not occur in infant ALL with t(4;11)/MLL-AF4

A computational procedure to identify significant overlap of differentially expressed and genomic imbalanced regions in cancer datasets

Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene

Infant ALL patients carrying t(4;11) have a different genotypic profile than older ALL children

LAL INFANT INTRODUCES A NEW SPECIFIC GENOMIC PROFILE

Renal cell carcinoma primary cultures as in vitro model to study genomic profile of parental tumor tissues

Infant ALL patients carrying t(4;11) have a different genotypic profile than older ALL children

Strategies for comparing gene expression profiles from different microarray platforms: Application to a case-control experiment

Strategies and tools for upgrading the information content of regulated gene lists from microarray experiments