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

Life Sciences, Genetics, Molecular Genetics +7

The UK10K project identifies rare variants in health and disease

Josine L. Min, Jie Huang, Yasin Memari et al. · Nature · 2015 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Silvia Bione, Elena Maestrini, Stefano Rivella et al. · Nature Genetics · 1994 · 885 citations

Life Sciences, Genetics, Molecular Genetics +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 · 752 citations

Life Sciences, Genetics, Molecular 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 · 676 citations · Full text

Life Sciences, Bioinformatics, Genetics +13