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List of works by Alberto Magi

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

scientific article

A model of anti-angiogenesis: differential transcriptosome profiling of microvascular endothelial cells from diffuse systemic sclerosis patients

scientific article

A new hybrid approach for MHC genotyping: high-throughput NGS and long read MinION nanopore sequencing, with application to the non-model vertebrate Alpine chamois (Rupicapra rupicapra).

scientific article published on 24 March 2018

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

Apolipoprotein(a) Kringle-IV Type 2 Copy Number Variation Is Associated with Venous Thromboembolism

scientific article

Assessment of fibrinolytic activity by measuring the lysis time of a tissue-factor-induced clot: a feasibility evaluation.

scientific article

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype

article

Bioinformatics for next generation sequencing data

scientific article

Carotid artery disease: novel pathophysiological mechanisms identified by gene-expression profiling of peripheral blood.

scientific article published on 14 August 2010

Characterization and identification of hidden rare variants in the human genome.

scientific article published on 24 April 2015

Characterization of MinION nanopore data for resequencing analyses.

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

Correction: Desmoglein-2-Integrin Beta-8 Interaction Regulates Actin Assembly in Endothelial Cells: Deregulation in Systemic Sclerosis.

scientific article published on 26 July 2013

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

scientific article

Detection of Genomic Structural Variants from Next-Generation Sequencing Data

scientific article

Detection of runs of homozygosity from whole exome sequencing data: state of the art and perspectives for clinical, population and epidemiological studies

scientific article

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

scientific article

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

Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism

scientific article published on 10 May 2010

Editorial: Repetitive Structures in Biological Sequences: Algorithms and Applications.

scientific article published on 04 August 2016

Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2

scientific article

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

scientific article published on 14 May 2015

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.

scientific article published on 17 May 2017

Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis

scientific article published on 24 August 2017

Genetic and nutritional factors determining circulating levels of lipoprotein(a): results of the "Montignoso Study"

scientific article published on 28 January 2020

Genetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infants

scientific article published on 13 June 2012

Genome-wide copy number analysis in pediatric glioblastoma multiforme

scientific article published on 26 May 2014

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

scientific article

High-throughput multiplex single-nucleotide polymorphism (SNP) analysis in genes involved in methionine metabolism.

scientific article published on 22 April 2008

Nanopore sequencing data analysis: state of the art, applications and challenges.

scientific article

Read count approach for DNA copy number variants detection ⬇️

scientific article published on December 23, 2011

SLMSuite: a suite of algorithms for segmenting genomic profiles.

scientific article published on 28 June 2017

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

scientific article

TRPA1 mediates damage of the retina induced by ischemia and reperfusion in mice

scientific article published on 15 August 2020

The antiangiogenic tissue kallikrein pattern of endothelial cells in systemic sclerosis

scientific article

Using XCAVATOR and EXCAVATOR2 to Identify CNVs from WGS, WES, and TS Data

scientific article published on 05 July 2018

Using a calibration experiment to assess gene-specific information: full Bayesian and empirical Bayesian models for two-channel microarray data.

scientific article

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

scientific article

XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.

scientific article published on 21 September 2017

Xome-Blender: A novel cancer genome simulator.

scientific article published on 5 April 2018

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