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paolo gasparini
paolo gasparini
IRCCS-Burlo Garofolo, UNiversity of TRieste
Bestätigte E-Mail-Adresse bei burlo.trieste.it
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Jahr
Heart disease and stroke statistics—2017 update: a report from the American Heart Association
EJ Benjamin, MJ Blaha, SE Chiuve, M Cushman, SR Das, R Deo, ...
circulation 135 (10), e146-e603, 2017
218792017
Heart disease and stroke statistics—2014 update: a report from the American Heart Association
AS Go, D Mozaffarian, VL Roger, EJ Benjamin, JD Berry, MJ Blaha, S Dai, ...
circulation 129 (3), e28-e292, 2014
159482014
A reference panel of 64,976 haplotypes for genotype imputation
Nature genetics 48 (10), 1279-1283, 2016
24772016
Genome-wide association study identifies 74 loci associated with educational attainment
A Okbay, JP Beauchamp, MA Fontana, JJ Lee, TH Pers, CA Rietveld, ...
Nature 533 (7604), 539-542, 2016
12522016
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
L Crisponi, M Deiana, A Loi, F Chiappe, M Uda, P Amati, L Bisceglia, ...
Nature genetics 27 (2), 159-166, 2001
10572001
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
C Camaschella, A Roetto, A Calì, M De Gobbi, G Garozzo, M Carella, ...
Nature genetics 25 (1), 14-15, 2000
10092000
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
8712018
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
L Zelante, P Gasparini, X Estivill, S Melchionda, L D'Agruma, N Govea, ...
Human molecular genetics 6 (9), 1605-1609, 1997
8531997
Connexin-26 mutations in sporadic and inherited sensorineural deafness
X Estivill, P Fortina, S Surrey, R Rabionet, S Melchionda, L D'Agruma, ...
The Lancet 351 (9100), 394-398, 1998
8291998
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
8032013
Dating the origin of the CCR5-Δ32 AIDS-resistance allele by the coalescence of haplotypes
JC Stephens, DE Reich, DB Goldstein, HD Shin, MW Smith, M Carrington, ...
The American Journal of Human Genetics 62 (6), 1507-1515, 1998
6731998
Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene
G Montosi, A Donovan, A Totaro, C Garuti, E Pignatti, S Cassanelli, ...
The Journal of clinical investigation 108 (4), 619-623, 2001
6652001
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
V Tiranti, K Hoertnagel, R Carrozzo, C Galimberti, M Munaro, ...
The American Journal of Human Genetics 63 (6), 1609-1621, 1998
6221998
Rare and low-frequency coding variants alter human adult height
E Marouli, M Graff, C Medina-Gomez, KS Lo, AR Wood, TR Kjaer, RS Fine, ...
Nature 542 (7640), 186-190, 2017
5822017
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
5782010
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
5742014
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
JRB Perry, F Day, CE Elks, P Sulem, DJ Thompson, T Ferreira, C He, ...
Nature 514 (7520), 92-97, 2014
5452014
High carrier frequency of the 35delG deafness mutation in European populations
P Gasparini, R Rabionet, G Barbujani, S Melchionda, M Petersen, ...
European Journal of Human Genetics 8 (1), 19-23, 2000
5242000
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
5182017
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
A Grifa, CA Wagner, L D'Ambrosio, S Melchionda, F Bernardi, ...
Nature genetics 23 (1), 16-18, 1999
4961999
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