diego vozzi
diego vozzi
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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
8822016
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
3722017
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
FR Day, KS Ruth, DJ Thompson, KL Lunetta, N Pervjakova, DI Chasman, ...
Nature genetics 47 (11), 1294-1303, 2015
2112015
Directional dominance on stature and cognition in diverse human populations
PK Joshi, T Esko, H Mattsson, N Eklund, I Gandin, T Nutile, AU Jackson, ...
Nature 523 (7561), 459-462, 2015
1352015
Type I interferon-mediated autoinflammation due to DNase II deficiency
MP Rodero, A Tesser, E Bartok, GI Rice, E Della Mina, M Depp, B Beitz, ...
Nature communications 8 (1), 2176, 2017
822017
Genome analyses of> 200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders
S Ligthart, A Vaez, U Võsa, MG Stathopoulou, PS De Vries, BP Prins, ...
The American Journal of Human Genetics 103 (5), 691-706, 2018
712018
Genetic variants linked to education predict longevity
RE Marioni, SJ Ritchie, PK Joshi, SP Hagenaars, A Okbay, K Fischer, ...
Proceedings of the National Academy of Sciences 113 (47), 13366-13371, 2016
712016
Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss
G Girotto, K Abdulhadi, A Buniello, D Vozzi, D Licastro, A d'Eustacchio, ...
PLoS One 8 (12), e80323, 2013
512013
Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients
D Vozzi, A Morgan, D Vuckovic, A D'Eustacchio, K Abdulhadi, E Rubinato, ...
Gene 542 (2), 209-216, 2014
492014
Rare coding variants and X-linked loci associated with age at menarche
KL Lunetta, FR Day, P Sulem, KS Ruth, JY Tung, DA Hinds, T Esko, ...
Nature communications 6 (1), 1-8, 2015
412015
Rare coding variants and X-linked loci associated with age at menarche
KL Lunetta, FR Day, P Sulem, KS Ruth, JY Tung, DA Hinds, T Esko, ...
Nature communications 6 (1), 1-8, 2015
412015
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype
V Lougaris, F Faletra, G Lanzi, D Vozzi, A Marcuzzi, E Valencic, ...
Clinical Immunology 159 (1), 33-36, 2015
362015
Molecular epidemiology of Usher syndrome in Italy
D Vozzi, A Aaspõllu, E Athanasakis, A Berto, A Fabretto, D Licastro, ...
Molecular vision 17, 1662, 2011
362011
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures
D Licastro, M Mutarelli, I Peluso, K Neveling, N Wieskamp, R Rispoli, ...
PLoS One 7 (8), e43799, 2012
352012
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection
E Athanasakis, D Licastro, F Faletra, A Fabretto, S Dipresa, D Vozzi, ...
American Journal of Medical Genetics Part A 164 (1), 170-176, 2014
332014
Mevalonate kinase deficiency and IBD: shared genetic background
AM Bianco, M Girardelli, D Vozzi, S Crovella, G Kleiner, A Marcuzzi
Gut 63 (8), 1367-1368, 2014
282014
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss
F Faletra, G Girotto, AP D'Adamo, D Vozzi, A Morgan, P Gasparini
Gene 534 (2), 236-239, 2014
272014
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis
S Lenarduzzi, D Vozzi, A Morgan, E Rubinato, A D'eustacchio, TM Osland, ...
Hearing research 320, 18-23, 2015
262015
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss
D Vuckovic, S Dawson, DI Scheffer, T Rantanen, A Morgan, M Di Stazio, ...
Human molecular genetics 24 (19), 5655-5664, 2015
252015
Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar
M Mezzavilla, D Vozzi, R Badii, MK Alkowari, K Abdulhadi, G Girotto, ...
Human Heredity 79 (1), 14-19, 2015
212015
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