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

Bioinformatics, 2012-12, Vol.28 (24), p.3232-3239

2012

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Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations

Journal of the American College of Cardiology, 2014-12, Vol.64 (24), p.2589-2600

2014

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Read count approach for DNA copy number variants detection

Bioinformatics, 2012-02, Vol.28 (4), p.470-478

2012

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Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

Journal of the American College of Cardiology, 2010-04, Vol.55 (14), p.1444-1453

2010

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Microvascular Function Is Selectively Impaired in Patients With Hypertrophic Cardiomyopathy and Sarcomere Myofilament Gene Mutations

Journal of the American College of Cardiology, 2011-08, Vol.58 (8), p.839-848

2011

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Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

Mayo Clinic proceedings, 2008-06, Vol.83 (6), p.630-638

2008

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Relevance of Coronary Microvascular Flow Impairment to Long-Term Remodeling and Systolic Dysfunction in Hypertrophic Cardiomyopathy

Journal of the American College of Cardiology, 2006-03, Vol.47 (5), p.1043-1048

2006

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Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy

The American journal of cardiology, 2016-04, Vol.117 (7), p.1151-1159

2016

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Prognostic Value of N-Terminal Pro-Brain Natriuretic Peptide in Outpatients With Hypertrophic Cardiomyopathy

The American journal of cardiology, 2013-10, Vol.112 (8), p.1190-1196

2013

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

PloS one, 2015-06, Vol.10 (6), p.e0129099-e0129099

2015

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Bioinformatics for next generation sequencing data

Genes, 2010-09, Vol.1 (2), p.294-307

2010

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

PloS one, 2011-05, Vol.6 (5), p.e20389-e20389

2011

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The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype

Haematologica (Roma), 2008-05, Vol.93 (5), p.722-728

2008

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Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

Genetics in medicine, 2019-02, Vol.21 (2), p.284-292

2019

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

Nucleic acids research, 2011-05, Vol.39 (10), p.e65

2011

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Usher’s Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation

Otolaryngology-head and neck surgery, 2017-11, Vol.157 (5), p.853-860

2017

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Characterization of a Novel Putative Xer-Dependent Integrative Mobile Element Carrying the bla(NMC-A) Carbapenemase Gene, Inserted into the Chromosome of Members of the Enterobacter cloacae Complex

Antimicrobial agents and chemotherapy, 2015-10, Vol.59 (10), p.6620-6624

2015

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False‐Positive Results with Amylase Testing of Citrus Fruits

Journal of forensic sciences, 2014-09, Vol.59 (5), p.1410-1412

2014

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Characterization of a Novel Putative Xer-Dependent Integrative Mobile Element Carrying the blaNMC-A Carbapenemase Gene, Inserted into the Chromosome of Members of the Enterobacter cloacae Complex

Antimicrobial agents and chemotherapy, 2015-09, Vol.59 (10), p.6620-6624

2015

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Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease

European journal of heart failure, 2013-12, Vol.15 (12), p.1363-1373

2013

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Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

Mayo Clinic proceedings, 2008-06, Vol.83 (6), p.630-638

2008

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

Circulation. Cardiovascular genetics, 2014-12, Vol.7 (6), p.741

2014

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Improving complex kinship analyses with additional STR loci

Electrophoresis, 2014-11, Vol.35 (21-22), p.3145-3151

2014

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Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

Scientific reports, 2017-11, Vol.7 (1), p.15681-8, Article 15681

2017

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

Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations

Read count approach for DNA copy number variants detection

Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

Microvascular Function Is Selectively Impaired in Patients With Hypertrophic Cardiomyopathy and Sarcomere Myofilament Gene Mutations

Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

Relevance of Coronary Microvascular Flow Impairment to Long-Term Remodeling and Systolic Dysfunction in Hypertrophic Cardiomyopathy

Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy

Prognostic Value of N-Terminal Pro-Brain Natriuretic Peptide in Outpatients With Hypertrophic Cardiomyopathy

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

Bioinformatics for next generation sequencing data

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

The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype

Gross genomic rearrangements involving deletions in the CFTR gene : characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

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

Usher’s Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation

Characterization of a Novel Putative Xer-Dependent Integrative Mobile Element Carrying the bla(NMC-A) Carbapenemase Gene, Inserted into the Chromosome of Members of the Enterobacter cloacae Complex

False‐Positive Results with Amylase Testing of Citrus Fruits

Characterization of a Novel Putative Xer-Dependent Integrative Mobile Element Carrying the blaNMC-A Carbapenemase Gene, Inserted into the Chromosome of Members of the Enterobacter cloacae Complex

Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease

Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

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

Improving complex kinship analyses with additional STR loci

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

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