Daniela Toniolo

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Gisèle Bonne, Marina Raffaele di Barletta, Shaïda Varnous et al. · Nature Genetics · 1999 · 1.3K citations

Mendelian Disorder, Genetic Disorder, Genetics +3

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Silvia Bione, Elena Maestrini, Stefano Rivella et al. · Nature Genetics · 1994 · 882 citations

Mendelian Disorder, Genetic Disorder, Natural Sciences +10

A novel X-linked gene, G4.5. is responsible for Barth syndrome

Silvia Bione, Patrizia D’Adamo, Elena Maestrini et al. · Nature Genetics · 1996 · 748 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness

Jared O’Connell, Deepti Gurdasani, Olivier Delaneau et al. · PLoS Genetics · 2014 · 658 citations · Full text

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Gisèle Bonne, Eugenio Mercuri, Antoine Muchir et al. · Annals of Neurology · 2000 · 486 citations

Cardiac Muscle, Engineering, Genetics +23