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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
13702016
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
6332017
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences
R Karlsson Linnér, P Biroli, E Kong, SFW Meddens, R Wedow, ...
Nature genetics 51 (2), 245-257, 2019
5762019
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
3952015
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
3522018
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
A Okbay, Y Wu, N Wang, H Jayashankar, M Bennett, SM Nehzati, ...
Nature genetics 54 (4), 437-449, 2022
3382022
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
2042017
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
1812015
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
902016
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
652013
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
622014
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 (Orlando, Fla.) 159 (1), 33-36, 2015
522015
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
512014
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), 7756, 2015
492015
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), 7756, 2015
492015
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
482015
Molecular epidemiology of Usher syndrome in Italy
D Vozzi, A Aaspõllu, E Athanasakis, A Berto, A Fabretto, D Licastro, ...
Molecular vision 17, 1662, 2011
392011
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, ...
Public Library of Science 7 (8), e43799, 2012
382012
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
372015
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
372014
En aquests moments el sistema no pot dur a terme l'operació. Torneu-ho a provar més tard.
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