Spremljaj
Daniela Toniolo
Daniela Toniolo
Head, Genetics of Common Disorders Unit, San Raffaele Scientific Institute, Milano, Italy
Preverjeni e-poštni naslov na hsr.it
Naslov
Navedeno
Navedeno
Leto
A reference panel of 64,976 haplotypes for genotype imputation
Nature genetics 48 (10), 1279-1283, 2016
29542016
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
16491999
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
12132018
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
10922015
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
10871994
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
8971996
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
8802013
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
6462014
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
6352019
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
6072010
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
6002017
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
5652000
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
5152017
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
5132000
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
5052011
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
4922016
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
4822011
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
4692017
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
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ...
Nature communications 6 (1), 8111, 2015
4152015
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