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 | 414 | 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), 1-15, 2017 | 91 | 2017 |
Evidence of inbreeding depression on human height R McQuillan, N Eklund, N Pirastu, M Kuningas, BP McEvoy, T Esko, ... PLoS Genet 8 (7), e1002655, 2012 | 90 | 2012 |
Acute tuberculous panophthalmitis RW Darrell Archives of Ophthalmology 78 (1), 51-54, 1967 | 51 | 1967 |
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 | 43 | 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 | 40 | 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 159 (1), 33-36, 2015 | 37 | 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 | 37 | 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 | 35 | 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 | 33 | 2014 |
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 | 30 | 2009 |
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 | 27 | 2014 |
Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature F Faletra, AP D'Adamo, MS Rocca, M Carrozzi, MD Perrone, V Pecile, ... American journal of medical genetics Part A 158 (2), 461-464, 2012 | 26 | 2012 |
Detection of Epidermal Thickening in GJB2 Carriers with Epidermal US1 PP Guastalla, VI Guerci, A Fabretto, F Faletra, DL Grasso, E Zocconi, ... Radiology 251 (1), 280-286, 2009 | 23 | 2009 |
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort F Faletra, E Athanasakis, A Morgan, X Biarnés, F Fornasier, R Parini, ... Gene 521 (1), 160-165, 2013 | 21 | 2013 |
Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene D De Rocco, N Pujol-Moix, A Pecci, F Faletra, V Bozzi, CL Balduini, ... European journal of medical genetics 52 (4), 191-194, 2009 | 21 | 2009 |
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability I Gandin, F Faletra, F Faletra, M Carella, V Pecile, GB Ferrero, E Biamino, ... Genetics in Medicine 17 (5), 396-399, 2015 | 20 | 2015 |
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 | 20 | 2012 |
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 | 19 | 2014 |
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements P Fortugno, F Grosso, G Zambruno, S Pastore, F Faletra, D Castiglia Journal of human genetics 57 (5), 311-315, 2012 | 18 | 2012 |