Lista de obras - Alberto Magi - Dominio Público Uruguay

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

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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).

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

article

Bioinformatics for next generation sequencing data

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2015

Characterization of MinION nanopore data for resequencing analyses.

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado el 11 de julio de 2013

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

artículo científico publicado en 2011

Detection of Genomic Structural Variants from Next-Generation Sequencing Data

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Read count approach for DNA copy number variants detection ⬇️

artículo científico publicado el 23 de diciembre de 2011

SLMSuite: a suite of algorithms for segmenting genomic profiles.

artículo científico

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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Xome-Blender: A novel cancer genome simulator.

artículo científico publicado en 2018

Lista de obras de Alberto Magi

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

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

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).

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

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

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

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

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

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

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

Bioinformatics for next generation sequencing data

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

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

Characterization of MinION nanopore data for resequencing analyses.

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

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

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

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

Detection of Genomic Structural Variants from Next-Generation Sequencing Data

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

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

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

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

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

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

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

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

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

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

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

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

Genome-wide copy number analysis in pediatric glioblastoma multiforme

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

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

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

Read count approach for DNA copy number variants detection ⬇️

SLMSuite: a suite of algorithms for segmenting genomic profiles.

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

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

The antiangiogenic tissue kallikrein pattern of endothelial cells in systemic sclerosis

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

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

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

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

Xome-Blender: A novel cancer genome simulator.