עקוב אחר
Daniela Toniolo
Daniela Toniolo
Head, Genetics of Common Disorders Unit, San Raffaele Scientific Institute, Milano, Italy
כתובת אימייל מאומתת בדומיין hsr.it
כותרת
צוטט על ידי
צוטט על ידי
שנה
A reference panel of 64,976 haplotypes for genotype imputation
Nature genetics 48 (10), 1279-1283, 2016
28602016
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
G Bonne, MRD Barletta, S Varnous, HM Bécane, EH Hammouda, ...
Nature genetics 21 (3), 285-288, 1999
16411999
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
E Evangelou, HR Warren, D Mosen-Ansorena, B Mifsud, R Pazoki, H Gao, ...
Nature genetics 50 (10), 1412-1425, 2018
11612018
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
10891994
The UK10K project identifies rare variants in health and disease
Statistics group Ciampi Antonio 8 Greenwood Celia MT (co-chair) 7 8 14 19 ...
Nature 526 (7571), 82-90, 2015
10812015
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
8951996
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), e1004234, 2014
6332014
A catalog of genetic loci associated with kidney function from analyses of a million individuals
M Wuttke, Y Li, M Li, KB Sieber, MF Feitosa, M Gorski, A Tin, L Wang, ...
Nature genetics 51 (6), 957-972, 2019
6112019
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), 1077-1085, 2010
6092010
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), 403-415, 2017
5802017
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
5622000
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
5122000
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
5112013
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
5042011
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
FR Day, DJ Thompson, H Helgason, DI Chasman, H Finucane, P Sulem, ...
Nature genetics 49 (6), 834-841, 2017
5002017
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
4792011
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), 10023, 2016
4772016
Clinical significance of somatic mutation in unexplained blood cytopenia
L Malcovati, A Gallì, E Travaglino, I Ambaglio, E Rizzo, E Molteni, C Elena, ...
Blood, The Journal of the American Society of Hematology 129 (25), 3371-3378, 2017
4612017
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), e5472, 2009
4212009
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
P d'Adamo, A Menegon, C Lo Nigro, M Grasso, M Gulisano, F Tamanini, ...
Nature genetics 19 (2), 134-139, 1998
4101998
המערכת אינה יכולה לבצע את הפעולה כעת. נסה שוב מאוחר יותר.
מאמרים 1–20