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 | 871 | 2000 |
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone Nature genetics 43 (7), 685-689, 2011 | 190 | 2011 |
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 |
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 |
Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer P Baldinu, A Cossu, A Manca, MP Satta, MC Sini, C Rozzo, S Dessole, ... Human mutation 23 (4), 318-326, 2004 | 100 | 2004 |
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 | 98 | 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 | 80 | 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 |
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 |
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 |
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts CL Liquori, S Penco, J Gault, TP Leedom, L Tassi, T Esposito, IA Awad, ... Neurogenetics 9, 25-31, 2008 | 46 | 2008 |
Identification and chromosomal localisation by fluorescence in situ hybridisation of human gene of phosphoinositide-specific phospholipase C β1 D Peruzzi, G Calabrese, I Faenza, L Manzoli, A Matteucci, ... Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids …, 2000 | 46 | 2000 |
A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases T Esposito, F Gianfrancesco, A Ciccodicola, L Montanini, S Mumm, ... Human molecular genetics 8 (1), 61-67, 1999 | 45 | 1999 |
A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere F Gianfrancesco, T Esposito, L Montanini, A Ciccodicola, S Mumm, ... Human molecular genetics 7 (3), 407-414, 1998 | 44 | 1998 |