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List of works by Matteo Benelli

16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems

scientific article published in November 2014

372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.

scientific article

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

scientific article

A gene expression signature of Retinoblastoma loss-of-function predicts resistance to neoadjuvant chemotherapy in ER-positive/HER2-positive breast cancer patients

scientific article published on 22 March 2018

A novel brain tumour model in zebrafish reveals the role of YAP activation in MAPK- and PI3K-induced malignant growth.

scientific article

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

scientific article published on 13 October 2016

A shifting level model algorithm that identifies aberrations in array-CGH data

scientific article

A systematic analysis of bone marrow cells by flow cytometry defines a specific phenotypic profile beyond GPI deficiency in paroxysmal nocturnal hemoglobinuria.

scientific article published on 26 December 2012

A very fast and accurate method for calling aberrations in array-CGH data

scientific article

Bioinformatics for next generation sequencing data

scientific article

CEBPA-double-mutated acute myeloid leukemia displays a unique phenotypic profile: a reliable screening method and insight into biological features

scientific article

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

scientific article published on 14 November 2011

Comprehensive analysis of radiomic datasets by RadAR

scientific article published on 15 June 2020

Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications

scientific article published on 14 November 2017

Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm ⬇️

scientific article

Differential impact of RB status on E2F1 reprogramming in human cancer

scientific article

Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript

scientific article

Divergent clonal evolution of castration-resistant neuroendocrine prostate cancer

scientific article published on 8 February 2016

EX-HOM (EXome HOMozygosity): a proof of principle

scientific article published on 18 August 2011

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

scientific article

Exome sequencing in primary melanoma identifies novel drivers of melanoma progression.

scientific article

Expanding the mutational spectrum of LZTR1 in schwannomatosis

scientific article published on 22 October 2014

Genome-wide plasma DNA methylation features of metastatic prostate cancer

scientific article published on 01 April 2020

H3M2: detection of runs of homozygosity from whole-exome sequencing data

scientific article

Hypovitaminosis D and osteopenia/osteoporosis in a haemophilia population: a study in HCV/HIV or HCV infected patients.

scientific article

Immunotherapy Bridge 2016 and Melanoma Bridge 2016: meeting abstracts.

scientific article

Mechanisms of Resistance to CDK4/6 Inhibitors in Breast Cancer and Potential Biomarkers of Response.

scientific article published on 27 October 2017

Multilineage dysplasia as assessed by immunophenotype has no impact on clinical-biological features and outcome of NPM1-mutated acute myeloid leukemia

scientific article published on 19 June 2015

N-Myc Induces an EZH2-Mediated Transcriptional Program Driving Neuroendocrine Prostate Cancer

scientific journal article

Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.

scientific article

Patient derived organoids to model rare prostate cancer phenotypes.

scientific article

Plasma Thymidine Kinase Activity as a Biomarker in Patients with Luminal Metastatic Breast Cancer Treated with Palbociclib within the TREnd Trial

scientific article published on 14 January 2020

Read count approach for DNA copy number variants detection ⬇️

scientific article published on December 23, 2011

Role of specialized composition of SWI/SNF complexes in prostate cancer lineage plasticity

scientific article published on 03 November 2020

SOX2 promotes lineage plasticity and antiandrogen resistance in TP53- and RB1-deficient prostate cancer

scientific article

Sphingosine 1-phosphate induces differentiation of mesoangioblasts towards smooth muscle. A role for GATA6

scientific article

Thin and thick primary cutaneous melanomas reveal distinct patterns of somatic copy number alterations.

scientific article published on 15 April 2016

Tumor purity quantification by clonal DNA methylation signatures.

scientific article

Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System

scientific article

WNP: a novel algorithm for gene products annotation from weighted functional networks

scientific article

ddSeeker: a tool for processing Bio-Rad ddSEQ single cell RNA-seq data

scientific article published on 24 December 2018

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