| CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome F Mari, S Azimonti, I Bertani, F Bolognese, E Colombo, R Caselli, E Scala, ... Human molecular genetics 14 (14), 1935-1946, 2005 | 385 | 2005 |
| CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms E Scala, F Ariani, F Mari, R Caselli, C Pescucci, I Longo, I Meloni, ... Journal of medical genetics 42 (2), 103-107, 2005 | 295 | 2005 |
| Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript M Benelli, C Pescucci, G Marseglia, M Severgnini, F Torricelli, A Magi Bioinformatics 28 (24), 3232-3239, 2012 | 191 | 2012 |
| Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene C Pescucci, F Mari, I Longo, P Vogiatzi, R Caselli, E Scala, C Abaterusso, ... Kidney international 65 (5), 1598-1603, 2004 | 182 | 2004 |
| Real‐time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication F Ariani, F Mari, C Pescucci, I Longo, M Bruttini, I Meloni, G Hayek, ... Human mutation 24 (2), 172-177, 2004 | 136 | 2004 |
| Rett syndrome: the complex nature of a monogenic disease A Renieri, I Meloni, I Longo, F Ariani, F Mari, C Pescucci, F Cambi Journal of molecular medicine 81, 346-354, 2003 | 122 | 2003 |
| Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study F Girolami, M Iascone, B Tomberli, S Bardi, M Benelli, G Marseglia, ... Circulation: Cardiovascular Genetics 7 (6), 741-750, 2014 | 95 | 2014 |
| 372 kb microdeletion in 18q12. 3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment G Marseglia, MR Scordo, C Pescucci, G Nannetti, E Biagini, V Scandurra, ... European journal of medical genetics 55 (3), 216-221, 2012 | 88 | 2012 |
| Overexpression of ETV4 is oncogenic in prostate cells through promotion of both cell proliferation and epithelial to mesenchymal transition A Pellecchia, C Pescucci, E De Lorenzo, C Luceri, N Passaro, M Sica, ... Oncogenesis 1 (7), e20-e20, 2012 | 68 | 2012 |
| 2q24–q31 deletion: report of a case and review of the literature C Pescucci, R Caselli, S Grosso, MA Mencarelli, F Mari, MA Farnetani, ... European journal of medical genetics 50 (1), 21-32, 2007 | 66 | 2007 |
| Non‐syndromic X‐linked mental retardation: From a molecular to a clinical point of view A Renieri, C Pescucci, I Longo, F Ariani, F Mari, I Meloni Journal of cellular physiology 204 (1), 8-20, 2005 | 63 | 2005 |
| A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded … I Longo, SGM Frints, JP Fryns, I Meloni, C Pescucci, F Ariani, ... Journal of medical genetics 40 (1), 11-17, 2003 | 61 | 2003 |
| Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families I Longo, E Scala, F Mari, R Caselli, C Pescucci, MA Mencarelli, ... Nephrology Dialysis Transplantation 21 (3), 665-671, 2006 | 60 | 2006 |
| Clinical and molecular characterization of a patient with a 2q31. 2‐32.3 deletion identified by array‐CGH MA Mencarelli, R Caselli, C Pescucci, G Hayek, M Zappella, A Renieri, ... American Journal of Medical Genetics Part A 143 (8), 858-865, 2007 | 58 | 2007 |
| Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett‐like features C Pescucci, I Meloni, M Bruttini, F Ariani, I Longo, F Mari, R Canitano, ... Clinical genetics 64 (6), 497-501, 2003 | 58 | 2003 |
| Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis—a collaborative study of the Italian Renal Immunopathology Group GM Frasca, A Onetti-Muda, F Mari, I Longo, E Scala, C Pescucci, ... Nephrology Dialysis Transplantation 20 (3), 545-551, 2005 | 40 | 2005 |
| Italian Rett database and biobank K Sampieri, I Meloni, E Scala, F Ariani, R Caselli, C Pescucci, I Longo, ... Human mutation 28 (4), 329-335, 2007 | 39 | 2007 |
| Clinical and molecular characterization of Italian patients affected by Cohen syndrome E Katzaki, C Pescucci, V Uliana, FT Papa, F Ariani, I Meloni, M Priolo, ... Journal of human genetics 52 (12), 1011-1017, 2007 | 35 | 2007 |
| Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH R Caselli, C Speciale, C Pescucci, V Uliana, K Sampieri, M Bruttini, ... Journal of Human Genetics 52 (6), 535-542, 2007 | 33 | 2007 |
| Germline mosaicism in Rett syndrome identified by prenatal diagnosis F Mari, R Caselli, S Russo, F Cogliati, F Ariani, I Longo, M Bruttini, ... Clinical genetics 67 (3), 258-260, 2005 | 33 | 2005 |
