A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures AJ Sharp, HC Mefford, K Li, C Baker, C Skinner, RE Stevenson, ... Nature genetics 40 (3), 322-328, 2008 | 648 | 2008 |
Olfactory receptor–gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements S Giglio, KW Broman, N Matsumoto, V Calvari, G Gimelli, T Neumann, ... The American Journal of Human Genetics 68 (4), 874-883, 2001 | 425 | 2001 |
Disruption of the ProSAP2 gene in at (12; 22)(q24. 1; q13. 3) is associated with the 22q13. 3 deletion syndrome MC Bonaglia, R Giorda, R Borgatti, G Felisari, C Gagliardi, A Selicorni, ... The American Journal of Human Genetics 69 (2), 261-268, 2001 | 369 | 2001 |
CNGA3 mutations in hereditary cone photoreceptor disorders B Wissinger, D Gamer, H Jägle, R Giorda, T Marx, S Mayer, S Tippmann, ... The American Journal of Human Genetics 69 (4), 722-737, 2001 | 361 | 2001 |
NKR-P1, a signal transduction molecule on natural killer cells R Giorda, WA Rudert, C Vavassori, WH Chambers, JC Hiserodt, M Trucco Science 249 (4974), 1298-1300, 1990 | 315 | 1990 |
Constitutive expression and role of the TNF family ligands in apoptotic killing of tumor cells by human NK cells Y Kashii, R Giorda, RB Herberman, TL Whiteside, NL Vujanovic The Journal of Immunology 163 (10), 5358-5366, 1999 | 306 | 1999 |
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13. 3 deletion syndrome MC Bonaglia, R Giorda, E Mani, G Aceti, BM Anderlid, A Baroncini, ... Journal of medical genetics 43 (10), 822-828, 2006 | 241 | 2006 |
Heterozygous submicroscopic inversions involving olfactory receptor–gene clusters mediate the recurrent t (4; 8)(p16; p23) translocation S Giglio, V Calvari, G Gregato, G Gimelli, S Camanini, R Giorda, ... The American Journal of Human Genetics 71 (2), 276-285, 2002 | 235 | 2002 |
Influence of the serotonin transporter promoter gene and shyness on children’s cerebral responses to facial expressions M Battaglia, A Ogliari, A Zanoni, A Citterio, U Pozzoli, R Giorda, C Maffei, ... Archives of general psychiatry 62 (1), 85-94, 2005 | 213 | 2005 |
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome MC Bonaglia, R Giorda, S Beri, C De Agostini, F Novara, M Fichera, ... PLoS genetics 7 (7), e1002173, 2011 | 212 | 2011 |
Mouse NKR-P1. A family of genes selectively coexpressed in adherent lymphokine-activated killer cells. R Giorda, M Trucco Journal of immunology (Baltimore, Md.: 1950) 147 (5), 1701-1708, 1991 | 175 | 1991 |
Silencer elements as possible inhibitors of pseudoexon splicing M Sironi, G Menozzi, L Riva, R Cagliani, GP Comi, N Bresolin, R Giorda, ... Nucleic acids research 32 (5), 1783-1791, 2004 | 173 | 2004 |
SLC6A4 methylation as an epigenetic marker of life adversity exposures in humans: a systematic review of literature L Provenzi, R Giorda, S Beri, R Montirosso Neuroscience & Biobehavioral Reviews 71, 7-20, 2016 | 145 | 2016 |
Overexpression of the C‐type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t (2; 7) translocation R Bocciardi, R Giorda, J Buttgereit, S Gimelli, MT Divizia, S Beri, ... Human mutation 28 (7), 724-731, 2007 | 139 | 2007 |
Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25 M Ventura, JM Mudge, V Palumbo, S Burn, E Blennow, M Pierluigi, ... Genome Research 13 (9), 2059-2068, 2003 | 136 | 2003 |
A family-based association study does not support DYX1C1 on 15q21. 3 as a candidate gene in developmental dyslexia C Marino, R Giorda, M Luisa Lorusso, L Vanzin, N Salandi, M Nobile, ... European Journal of Human Genetics 13 (4), 491-499, 2005 | 134 | 2005 |
Analysis of the structure and expression of the augmenter of liver regeneration (ALR) gene R Giorda, M Hagiya, T Seki, M Shimonishi, H Sakai, J Michaelson, ... Molecular Medicine 2, 97-108, 1996 | 128 | 1996 |
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability AT Pagnamenta, H Khan, S Walker, D Gerrelli, K Wing, MC Bonaglia, ... Journal of medical genetics 48 (1), 48-54, 2011 | 126 | 2011 |
Rat natural killer cell antigen, NKR-P1, related to C-type animal lectins is a carbohydrate-binding protein K Bezouska, G Vlahas, O Horváth, G Jinochová, A Fiserova, R Giorda, ... Journal of Biological Chemistry 269 (24), 16945-16952, 1994 | 116 | 1994 |
XX males SRY negative: a confirmed cause of infertility A Vetro, R Ciccone, R Giorda, MG Patricelli, E Della Mina, A Forlino, ... Journal of medical genetics 48 (10), 710-712, 2011 | 114 | 2011 |