Daniela Toniolo
Vita-Salute San Raffaele University(IT)Erasmus MC(NL)Erasmus University Rotterdam(NL)
Publications by Year
Research Areas
Genetic Associations and Epidemiology, RNA Research and Splicing, Genetics and Neurodevelopmental Disorders, Nuclear Structure and Function, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Most-Cited Works
- → A reference panel of 64,976 haplotypes for genotype imputation(2016)3,228 cited
- → Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy(1999)1,339 cited
- → Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy(1994)882 cited
- → A novel X-linked gene, G4.5. is responsible for Barth syndrome(1996)749 cited
- → A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness(2014)671 cited
- → Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function(2016)526 cited