Rosaria Maria Galota

Most-cited papers

1. Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era

   S. Zampatti, L. Colantoni, C. Strafella, Rosaria Maria Galota +9 more

   2019Neurogenetics31 citations

   Semantic Scholar

   Save

2. The variability of SMCHD1 gene in FSHD patients: evidence of new mutations

   C. Strafella, V. Caputo, Rosaria Maria Galota, Giulia Campoli +10 more

   2019Human Molecular Genetics17 citations Open access

   Semantic Scholar

   Save

3. Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report

   C. Strafella, Giulia Campoli, Rosaria Maria Galota, V. Caputo +11 more

   2019Frontiers in Neurology15 citations Open access

   Semantic Scholar

   Save

4. NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene

   C. Strafella, V. Caputo, Giulia Pagliaroli, Nicola Iozzo +9 more

   2019Genes14 citations Open access

   Semantic Scholar

   Save

5. Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD

   R. Cascella, C. Strafella, V. Caputo, Rosaria Maria Galota +11 more

   2018Frontiers in Neurology11 citations Open access

   Semantic Scholar

   Save

6. Genetic Counseling and NGS Screening for Recessive LGMD2A Families

   C. Strafella, V. Caputo, Giulia Campoli, Rosaria Maria Galota +7 more

   2020High-Throughput2 citations Open access

   Semantic Scholar

   Save