Next Generation Sequencing Core

Scientific Publications

• 2013 HUMAN GENE THERAPY

  Use of a Lower Dosage Liver-Detargeted AAV Vector to Prevent Hamster Muscular Dystrophy

• 2014 JOURNAL OF COMPUTATIONAL BIOLOGY

  Prediction of Rare Single-Nucleotide Causative Mutations for Muscular Diseases in Pooled Next-Generation Sequencing Experiments

• 2014 OPHTHALMIC GENET

  Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant

• 2013 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Familial trisomy 6p in mother and daughter

• 2015 MUSCLE & NERVE

  DOMINANT MUSCULAR DYSTROPHY WITH A NOVEL SYNE1 GENE MUTATION

• 2013 PLOS ONE

  Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

• 2015 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects

• 2015 JOURNAL OF DENTAL RESEARCH

  Genetic Association of ARHGAP21 Gene Variant with Mandibular Prognathism

• 2015 EUROPEAN JOURNAL OF HUMAN GENETICS

  Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1

• 2011 HUMAN MOLECULAR GENETICS

  Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex

• 2011 CURRENT OPINION IN NEUROLOGY

  Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches

• 2016 NEUROMUSCULAR DISORDERS

  Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative Next Generation Sequencing results

• 2011 Journal of cellular physiology

  Unexpectedly Low Mutation Rates in Beta-Myosin Heavy Chain and Cardiac Myosin Binding Protein Genes in Italian Patients With Hypertrophic Cardiomyopathy

• 2015 EMBO MOLECULAR MEDICINE

  Antigen delivery by filamentous bacteriophage fd displaying an anti-DEC-205 single-chain variable fragment confers adjuvanticity by triggering a TLR9-mediated immune response

• 2016 NEUROMUSCULAR DISORDERS

  Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

• 2013 JOURNAL OF NEUROLOGY

  Clinical phenotype, muscle MRI and muscle pathology of LGMD1F

• 2015 AUTOPHAGY

  Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

• 2016 EUROPEAN JOURNAL OF HUMAN GENETICS

  Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

• 2011 PLOS ONE

  Worsening of Cardiomyopathy Using Deflazacort in an Animal Model Rescued by Gene Therapy

• 2011 CLINICAL CHEMISTRY

  Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

• 2016 ORPHANET JOURNAL OF RARE DISEASES

  MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

• 2014 HUMAN MOLECULAR GENETICS

  A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

• 2015 NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

  Familial polyglucosan body myopathy with unusual phenotype