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 | 1408 | 2016 |
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 | 654 | 2017 |
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 | 615 | 2019 |
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 | 407 | 2015 |
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 | 383 | 2022 |
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 | 362 | 2018 |
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 | 210 | 2017 |
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 | 195 | 2015 |
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 | 92 | 2016 |
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 | 65 | 2013 |
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 | 62 | 2014 |
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 | 54 | 2015 |
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 | 51 | 2015 |
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 | 51 | 2014 |
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 | 49 | 2015 |
Molecular epidemiology of Usher syndrome in Italy D Vozzi, A Aaspõllu, E Athanasakis, A Berto, A Fabretto, D Licastro, ... Molecular vision 17, 1662, 2011 | 40 | 2011 |
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 | 39 | 2015 |
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 | 38 | 2012 |
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 | 37 | 2014 |
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 | 37 | 2014 |