| Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome AJMH Verkerk, M Pieretti, JS Sutcliffe, YH Fu, DPA Kuhl, A Pizzuti, ... Cell 65 (5), 905-914, 1991 | 4200 | 1991 |
| Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox YH Fu, DPA Kuhl, A Pizzuti, M Pieretti, JS Sutcliffe, S Richards, ... Cell 67 (6), 1047-1058, 1991 | 2584 | 1991 |
| An unstable triplet repeat in a gene related to myotonic muscular dystrophy YH Fu, A Pizzuti, RG Fenwick Jr, J King, S Rajnarayan, PW Dunne, ... Science 255 (5049), 1256-1258, 1992 | 1781 | 1992 |
| Characterization of a murine gene expressed from the inactive X chromosome G Borsani, R Tonlorenzi, MC Simmler, L Dandolo, D Arnaud, V Capra, ... Nature 351 (6324), 325-329, 1991 | 666 | 1991 |
| Triplet repeat mutations in human disease CT Caskey, A Pizzuti, YH Fu, RG Fenwick Jr, DL Nelson Science 256 (5058), 784-789, 1992 | 553 | 1992 |
| Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer P Kaurah, A MacMillan, N Boyd, J Senz, A De Luca, N Chun, G Suriano, ... Jama 297 (21), 2360-2372, 2007 | 524 | 2007 |
| Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene MC Digilio, E Conti, A Sarkozy, R Mingarelli, T Dottorini, B Marino, ... The American Journal of Human Genetics 71 (2), 389-394, 2002 | 474 | 2002 |
| Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy YH Fu, DL Friedman, S Richards, JA Pearlman, RA Gibbs, A Pizzuti, ... Science 260 (5105), 235-238, 1993 | 413 | 1993 |
| Unravelling the complexity of T cell abnormalities in common variable immunodeficiency A Giovannetti, M Pierdominici, F Mazzetta, M Marziali, C Renzi, AM Mileo, ... The Journal of Immunology 178 (6), 3932-3943, 2007 | 337 | 2007 |
| HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing F Megiorni, A Pizzuti Journal of biomedical science 19, 1-5, 2012 | 320 | 2012 |
| A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance. A Pizzuti, L Frittitta, A Argiolas, R Baratta, ID Goldfine, M Bozzali, ... Diabetes 48 (9), 1881-1884, 1999 | 320 | 1999 |
| TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells C Colombrita, E Onesto, F Megiorni, A Pizzuti, FE Baralle, E Buratti, ... Journal of Biological Chemistry 287 (19), 15635-15647, 2012 | 316 | 2012 |
| Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain A Bertolino, G Blasi, V Latorre, V Rubino, A Rampino, L Sinibaldi, ... Journal of Neuroscience 26 (15), 3918-3922, 2006 | 294 | 2006 |
| Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring JB Redman, RG Fenwick, YH Fu, A Pizzuti, CT Caskey Jama 269 (15), 1960-1965, 1993 | 271 | 1993 |
| Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype C Carta, F Pantaleoni, G Bocchinfuso, L Stella, I Vasta, A Sarkozy, ... The American Journal of Human Genetics 79 (1), 129-135, 2006 | 265 | 2006 |
| Survival motor-neuron gene transcript analysis in muscles from spinal muscular-atrophy patients M Gennarelli, M Lucarelli, F Capon, A Pizzuti, L Merlini, C Angelini, ... Biochemical and biophysical research communications 213 (1), 342-348, 1995 | 238 | 1995 |
| A variation in 3′ UTR of hPTP1B increases specific gene expression and associates with insulin resistance R Di Paola, L Frittitta, G Miscio, M Bozzali, R Baratta, M Centra, ... The American Journal of Human Genetics 70 (3), 806-812, 2002 | 237 | 2002 |
| Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes A Sarkozy, E Conti, D Seripa, MC Digilio, N Grifone, C Tandoi, VM Fazio, ... Journal of medical genetics 40 (9), 704-708, 2003 | 212 | 2003 |
| Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome F Kortüm, V Caputo, CK Bauer, L Stella, A Ciolfi, M Alawi, G Bocchinfuso, ... Nature genetics 47 (6), 661-667, 2015 | 205 | 2015 |
| Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome A Sarkozy, E Conti, MC Digilio, B Marino, E Morini, G Pacileo, M Wilson, ... Journal of Medical Genetics 41 (5), e68-e68, 2004 | 199 | 2004 |
