| Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. A Smahi, G Courtois, P Vabres, S Yamaoka, S Heuertz, A Munnich, ... Nature 405 (6785), 466-473, 2000 | 830 | 2000 |
| A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations S Aradhya, H Woffendin, T Jakins, T Bardaro, T Esposito, A Smahi, ... Human molecular genetics 10 (19), 2171-2179, 2001 | 250 | 2001 |
| Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2 M D’esposito, NA Quaderi, A Ciccodicola, P Bruni, T Esposito, M D’Urso, ... Mammalian Genome 7, 533-535, 1996 | 180 | 1996 |
| Selective deficit for people’s names following left temporal damage: An impairment of domain-specific conceptual knowledge G Miceli, R Capasso, A Daniele, T Esposito, M Magarelli, F Tomaiuolo Cognitive Neuropsychology 17 (6), 489-516, 2000 | 142 | 2000 |
| Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region A Ciccodicola, M D’Esposito, T Esposito, F Gianfrancesco, C Migliaccio, ... Human Molecular Genetics 9 (3), 395-401, 2000 | 138 | 2000 |
| Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes S Aradhya, T Bardaro, P Galgóczy, T Yamagata, T Esposito, H Patlan, ... Human molecular genetics 10 (22), 2557-2567, 2001 | 104 | 2001 |
| A synaptobrevin–like gene in the Xq28 pseudoautosomal region undergoes X inactivation M D'Esposito, A Ciccodicola, F Gianfrancesco, T Esposito, L Flagiello, ... Nature genetics 13 (2), 227-229, 1996 | 104 | 1996 |
| piR_015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene T Esposito, S Magliocca, D Formicola, F Gianfrancesco PLoS One 6 (7), e22727, 2011 | 98 | 2011 |
| FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women D Rendina, F Gianfrancesco, G De Filippo, D Merlotti, T Esposito, ... European journal of endocrinology 163 (1), 165-172, 2010 | 97 | 2010 |
| Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate F Gianfrancesco, T Esposito, MN Ombra, P Forabosco, G Maninchedda, ... The American Journal of Human Genetics 72 (6), 1479-1491, 2003 | 96 | 2003 |
| SQSTM1 gene analysis and gene‐environment interaction in Paget's disease of bone L Gennari, F Gianfrancesco, M Di Stefano, D Rendina, D Merlotti, ... Journal of Bone and Mineral Research 25 (6), 1375-1384, 2010 | 79 | 2010 |
| ZNF687 mutations in severe Paget disease of bone associated with giant cell tumor G Divisato, D Formicola, T Esposito, D Merlotti, L Pazzaglia, A Del Fattore, ... The American Journal of Human Genetics 98 (2), 275-286, 2016 | 75 | 2016 |
| Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility D Formicola, A Aloia, S Sampaolo, O Farina, D Diodato, LR Griffiths, ... BMC medical genetics 11, 1-12, 2010 | 70 | 2010 |
| Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease OME Albagha, MR Visconti, N Alonso, S Wani, K Goodman, WD Fraser, ... Journal of Bone and Mineral Research 28 (11), 2338-2346, 2013 | 65 | 2013 |
| Χ/Autosomal Translocations in the Χq critical region associated with premature ovarian failure fall within and outside genes S Mumm, L Herrera, PW Waeltz, A Scardovi, R Nagaraja, T Esposito, ... Genomics 76 (1-3), 30-36, 2001 | 53 | 2001 |
| Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy T Esposito, S Sampaolo, G Limongelli, A Varone, D Formicola, D Diodato, ... Orphanet journal of rare diseases 8, 1-13, 2013 | 52 | 2013 |
| Identification of sixteen novel candidate genes for late onset Parkinson’s disease A Gialluisi, MG Reccia, N Modugno, T Nutile, A Lombardi, ... Molecular neurodegeneration 16, 1-18, 2021 | 51 | 2021 |
| Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution F Gianfrancesco, R Sanges, T Esposito, S Tempesta, E Rao, G Rappold, ... Genome Research 11 (12), 2095-2100, 2001 | 50 | 2001 |
| YAC contig organization and CpG island analysis in Xq28 G Palmieri, G Romano, A Ciccodicola, A Casamassimi, C Campanile, ... Genomics 24 (1), 149-158, 1994 | 48 | 1994 |
| Clinical characteristics and evolution of giant cell tumor occurring in Paget's disease of bone D Rendina, G De Filippo, SH Ralston, D Merlotti, F Gianfrancesco, ... Journal of Bone and Mineral Research 30 (2), 257-263, 2015 | 46 | 2015 |
