paolo gasparini
paolo gasparini
IRCCS-Burlo Garofolo, UNiversity of TRieste
Verified email at burlo.trieste.it
TitleCited byYear
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
C Camaschella, A Roetto, A Calě, M De Gobbi, G Garozzo, M Carella, ...
Nature genetics 25 (1), 14, 2000
8882000
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, 2001
8622001
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
7691998
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
7581997
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, 2016
6982016
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
5892001
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, 2016
5872016
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
5671998
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
5371998
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, 2013
4432013
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, 2000
4402000
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, 1999
4361999
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
4082010
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
M Carella, L D'ambrosio, A Totaro, A Grifa, MA Valentino, A Piperno, ...
American journal of human genetics 60 (4), 828, 1997
4081997
Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder
AM Persico, L D'agruma, N Maiorano, A Totaro, R Militerni, C Bravaccio, ...
Molecular psychiatry 6 (2), 150, 2001
3722001
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, 2011
3652011
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
A Spinazzola, C Viscomi, E Fernandez-Vizarra, F Carrara, P D'Adamo, ...
Nature genetics 38 (5), 570, 2006
3642006
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
MJ Calonge, P Gasparini, J Chillarón, M Chillón, M Gallucci, F Rousaud, ...
Nature genetics 6 (4), 420, 1994
3631994
New gene functions in megakaryopoiesis and platelet formation
C Gieger, A Radhakrishnan, A Cvejic, W Tang, E Porcu, G Pistis, ...
Nature 480 (7376), 201, 2011
3422011
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, 2014
3252014
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