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Daniela Toniolo | Researchclopedia

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Daniela Toniolo

Vita-Salute San Raffaele University ORCID

274

Works

30,617

Citations

82

h-index

198

i10-index

Research Topics

Genetic Associations and Epidemiology RNA Research and Splicing Genetics and Neurodevelopmental Disorders

Affiliations

University of North Carolina at Chapel Hill2013–2016

University of Southern California2015–2015

National Institutes of Health2016–2016

Harvard University2012–2012

Vita-Salute San Raffaele University2003–2024

Top Works

A reference panel of 64,976 haplotypes for genotype imputation

Richard Durbin,Klaudia Walter,et al.

20163,230 citations

Nuclear Structure and Function

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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

Gisèle Bonne,Marina Raffaele di Barletta,et al.

19991,339 citations

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

Silvia Bione,Elena Maestrini,et al.

1994882 citations

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

Silvia Bione,Patrizia D’Adamo,et al.

1996749 citations

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

Jared O’Connell,Deepti Gurdasani,et al.

2014671 citations

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Cristian Pattaro,Alexander Teumer,et al.

2016528 citations

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,et al.

2000486 citations

Clinical significance of somatic mutation in unexplained blood cytopenia

Luca Malcovati,Anna Gallì,et al.

2017459 citations

Genetic Structure of Europeans: A View from the North–East

Mari Nelis,Tōnu Esko,et al.

2009433 citations