Daniela Toniolo - Concepedia

Author

Daniela Toniolo

Also Known As

Alanna C Morrison, Andrew Chan, Antoniou, Antonis C., Barroso, Inês, Catharina A. Hartman, Cucca, F, D Toniolo, D. Toniolo, DANIELA TONIOLO, Daniel Tiller

276

Publications

30.3K

Citations

H-Index

170

Concepts

All Affiliations

Istituto di Genetica Molecolare IRCCS Materno Infantile Burlo Garofolo Vita-Salute San Raffaele University Institute of Genetics and Biophysics University of Trieste

About

Daniela Toniolo is an author at Istituto di Genetica Molecolare specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	37	72	8.2K
2	Natural Sciences	18	23	2.2K
3	Public Health	12	12	968
4	Engineering	7	7	1.3K
5	Social Sciences	2	2	37

Daniela Toniolo

145

Publications

16.2K

Citations

H-Index

Page 1

	Year	Citations
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy Gisèle Bonne, Marina Raffaele di Barletta, Shaïda Varnous, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsDegenerative DiseaseDisease Gene Identification	1999	1.3K
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy Silvia Bione, Elena Maestrini, Stefano Rivella, Nature Genetics Mendelian DisorderGenetic DisorderNatural SciencesGeneticsMolecular Biology	1994	882
A novel X-linked gene, G4.5. is responsible for Barth syndrome Silvia Bione, Patrizia D’Adamo, Elena Maestrini, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsPathologyGenetic Mechanism	1996	748
A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness Jared O’Connell, Deepti Gurdasani, Olivier Delaneau, PLoS Genetics	2014	658
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, Annals of Neurology Cardiac MuscleEngineeringGeneticsMolecular GeneticsCytoskeleton	2000	486
Clinical significance of somatic mutation in unexplained blood cytopenia Luca Malcovati, Anna Gallì, Erica Travaglino, Blood	2017	455
Genetic Structure of Europeans: A View from the North–East Mari Nelis, Tōnu Esko, Reedik Mägi, PLoS ONE Genotype-phenotype AssociationMolecular EcologyHuman VariationMedicineGenetics	2009	432
Genetic insights into biological mechanisms governing human ovarian ageing Katherine S. Ruth, Felix R. Day, Jazib Hussain, Nature InfertilityDevelopmental BiologyLongevityGenetic InsightsMenopause	2021	416
Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Marina Raffaele di Barletta, Enzo Ricci, Giuliana Galluzzi, The American Journal of Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsDegenerative Disease	2000	411
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers Carlo Sidore, Fabio Busonero, Andrea Maschio, Nature Genetics Genome-wide Association StudySequencingEngineeringMedicineGenetics	2015	405

Page 1