Rachele Rossi

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 100 citations · Full text

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Marcella Neri, Rachele Rossi, Cecilia Trabanelli et al. · Frontiers in Genetics · 2020 · 80 citations · Full text

Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia

Alessia Nasca, C. Scotton, Irina Zaharieva et al. · Human Mutation · 2017 · 60 citations · Full text

Mitochondrial Myopathy, Neurodegenerative Diseases, Mendelian Disorder +15

Introduction of Heteroplasmic Mitochondrial DNA (MtDNA) from a Patient with NARP Into Two Human    cell Lines Is Associated Either With Selection and Maintenance of NARP Mutant MtDNA or Failure to Maintain MtDNA

Lodovica Vergani, Rachele Rossi, Catherine H. Brierley et al. · Human Molecular Genetics · 1999 · 32 citations · Full text

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldız, Erdi Küçük, Juliet E. Hampstead et al. · Human Genomics · 2023 · 26 citations · Full text