Daniela Toniolo
Daniela Toniolo
Head, Genetics of Common Disorders Unit, San Raffaele Scientific Institute, Milano, Italy
Verified email at hsr.it
Title
Cited by
Cited by
Year
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
G Bonne, MR Di Barletta, S Varnous, HM Bécane, EH Hammouda, ...
Nature genetics 21 (3), 285-288, 1999
13561999
A reference panel of 64,976 haplotypes for genotype imputation
S McCarthy, S Das, W Kretzschmar, O Delaneau, AR Wood, A Teumer, ...
Nature genetics 48 (10), 1279-1283, 2016
9882016
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
S Bione, E Maestrini, S Rivella, M Mancini, S Regis, G Romeo, D Toniolo
Nature genetics 8 (4), 323-327, 1994
9401994
A novel X-linked gene, G4. 5. is responsible for Barth syndrome
S Bione, P D'Adamo, E Maestrini, AK Gedeon, PA Bolhuis, D Toniolo
Nature genetics 12 (4), 385-389, 1996
7171996
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
A Köttgen, E Albrecht, A Teumer, V Vitart, J Krumsiek, C Hundertmark, ...
Nature genetics 45 (2), 145-154, 2013
5292013
Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
G Bonne, E Mercuri, A Muchir, A Urtizberea, HM Becane, D Recan, ...
Annals of Neurology: Official Journal of the American Neurological …, 2000
4552000
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
CE Elks, JRB Perry, P Sulem, DI Chasman, N Franceschini, C He, ...
Nature genetics 42 (12), 1077, 2010
4502010
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
MR Di Barletta, E Ricci, G Galluzzi, P Tonali, M Mora, L Morandi, ...
The American Journal of Human Genetics 66 (4), 1407-1412, 2000
4212000
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
LV Wain, GC Verwoert, PF O'Reilly, G Shi, T Johnson, AD Johnson, ...
Nature genetics 43 (10), 1005-1011, 2011
3882011
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
P D'Adamo, A Menegon, CL Nigro, M Grasso, M Gulisano, F Tamanini, ...
Nature genetics 19 (2), 134-139, 1998
3781998
New gene functions in megakaryopoiesis and platelet formation
C Gieger, A Radhakrishnan, A Cvejic, W Tang, E Porcu, G Pistis, ...
Nature 480 (7376), 201-208, 2011
3742011
A general approach for haplotype phasing across the full spectrum of relatedness
J O'Connell, D Gurdasani, O Delaneau, N Pirastu, S Ulivi, M Cocca, ...
PLoS genetics 10 (4), 2014
3682014
Genetic structure of Europeans: a view from the north–east
M Nelis, T Esko, R Mägi, F Zimprich, A Zimprich, D Toncheva, ...
PloS one 4 (5), 2009
3362009
Seventy-five genetic loci influencing the human red blood cell
P Van Der Harst, W Zhang, IM Leach, A Rendon, N Verweij, J Sehmi, ...
Nature 492 (7429), 369-375, 2012
2982012
Isolation of human glucose-6-pbosphate debydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5'non-coding region
MG Persico, G Viglietto, G Martini, D Toniolo, G Paonessa, C Moscatelli, ...
Nucleic acids research 14 (6), 2511-2522, 1986
2891986
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and …
S Bione, C Sala, C Manzini, G Arrigo, O Zuffardi, S Banfi, G Borsani, ...
The American Journal of Human Genetics 62 (3), 533-541, 1998
2821998
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk
HR Warren, E Evangelou, CP Cabrera, H Gao, M Ren, B Mifsud, I Ntalla, ...
Nature genetics 49 (3), 403, 2017
2742017
The X-linked gene G4. 5 is responsible for different infantile dilated cardiomyopathies
P D'Adamo, L Fassone, A Gedeon, EAM Janssen, S Bione, PA Bolhuis, ...
The American Journal of Human Genetics 61 (4), 862-867, 1997
2731997
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
C Pattaro, A Teumer, M Gorski, AY Chu, M Li, V Mijatovic, M Garnaas, ...
Nature communications 7 (1), 1-19, 2016
2552016
A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
I Meloni, M Bruttini, I Longo, F Mari, F Rizzolio, P D'Adamo, K Denvriendt, ...
The American Journal of Human Genetics 67 (4), 982-985, 2000
2532000
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