| 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), 1005-1011, 2011 | 505 | 2011 |
| 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 | 216 | 2017 |
| Evidence of inbreeding depression on human height R McQuillan, N Eklund, N Pirastu, M Kuningas, BP McEvoy, T Esko, ... PLoS genetics 8 (7), e1002655, 2012 | 120 | 2012 |
| Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene F Faletra, AP D'Adamo, I Bruno, E Athanasakis, S Biskup, L Esposito, ... American Journal of Medical Genetics Part A 164 (1), 42-47, 2014 | 68 | 2014 |
| SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ... The American Journal of Human Genetics 108 (3), 502-516, 2021 | 67 | 2021 |
| 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 | 55 | 2015 |
| A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta E Rubinato, A Morgan, A D'Eustacchio, V Pecile, G Gortani, P Gasparini, ... Gene 545 (2), 290-292, 2014 | 55 | 2014 |
| Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis E Palagano, HC Blair, A Pangrazio, I Tourkova, D Strina, A Angius, ... Journal of Bone and Mineral Research 30 (10), 1814-1821, 2015 | 52 | 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 |
| TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome M Pigors, D Kiritsi, C Cobzaru, A Schwieger-Briel, J Suárez, F Faletra, ... Journal of investigative dermatology 132 (10), 2422-2429, 2012 | 50 | 2012 |
| Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? P D'Adamo, VI Guerci, A Fabretto, F Faletra, DL Grasso, L Ronfani, ... European Journal of Human Genetics 17 (3), 284-286, 2009 | 39 | 2009 |
| Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability C Reggiani, S Coppens, T Sekhara, I Dimov, B Pichon, N Lufin, MC Addor, ... Genome medicine 9, 1-20, 2017 | 37 | 2017 |
| 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 |
| Gene panel analysis in a large cohort of patients with autosomal dominant polycystic kidney disease allows the identification of 80 potentially causative novel variants and the … V Mantovani, S Bin, C Graziano, I Capelli, R Minardi, V Aiello, ... Frontiers in Genetics 11, 464, 2020 | 36 | 2020 |
| Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C F Pelletier, S Perrier, FK Cayami, A Mirchi, S Saikali, LT Tran, N Ulrick, ... The Journal of Clinical Endocrinology & Metabolism 106 (2), e660-e674, 2021 | 34 | 2021 |
| Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening A Maiorana, F Barbetti, A Boiani, V Rufini, M Pizzoferro, P Francalanci, ... Clinical endocrinology 81 (5), 679-688, 2014 | 31 | 2014 |
| De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature MD Perrone, MS Rocca, I Bruno, F Faletra, V Pecile, P Gasparini European Journal of Medical Genetics 55 (2), 117-119, 2012 | 30 | 2012 |
| Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss A Morgan, DC Koboldt, ES Barrie, ER Crist, G García García, ... Human mutation 40 (12), 2286-2295, 2019 | 29 | 2019 |
| Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4 R Bottega, MD Perrone, K Vecchiato, A Taddio, S Sabui, V Pecile, ... Journal of human genetics 64 (11), 1075-1081, 2019 | 27 | 2019 |
| Genomic studies in a large cohort of hearing impaired Italian patients revealed several new alleles, a rare case of uniparental disomy (UPD) and the importance to search for … A Morgan, S Lenarduzzi, S Cappellani, V Pecile, M Morgutti, E Orzan, ... Frontiers in Genetics 9, 681, 2018 | 27 | 2018 |
