| Rfx6 directs islet formation and insulin production in mice and humans SB Smith, HQ Qu, N Taleb, NY Kishimoto, DW Scheel, Y Lu, AM Patch, ... Nature 463 (7282), 775-780, 2010 | 399 | 2010 |
| Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas V Gismondi, M Meta, L Bonelli, P Radice, P Sala, L Bertario, A Viel, ... International journal of cancer 109 (5), 680-684, 2004 | 208 | 2004 |
| Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus P Volpe, D Paladini, M Resta, A Stanziano, M Salvatore, M Quarantelli, ... Ultrasound in Obstetrics and Gynecology: The Official Journal of the …, 2006 | 203 | 2006 |
| Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) D Doherty, MA Parisi, LS Finn, M Gunay-Aygun, M Al-Mateen, D Bates, ... Journal of medical genetics 47 (1), 8-21, 2010 | 183 | 2010 |
| Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis G Guanti, N Resta, C Simone, F Cariola, I Demma, P Fiorente, M Gentile Human molecular genetics 9 (2), 283-287, 2000 | 167 | 2000 |
| Genetic diversity of a canine coronavirus detected in pups with diarrhoea in Italy A Pratelli, V Martella, N Decaro, A Tinelli, M Camero, F Cirone, G Elia, ... Journal of Virological Methods 110 (1), 9-17, 2003 | 145 | 2003 |
| Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature F Rizzolio, S Bione, C Sala, M Goegan, M Gentile, G Gregato, E Rossi, ... Human reproduction 21 (6), 1477-1483, 2006 | 144 | 2006 |
| Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide G Castellana, G Castellana, M Gentile, R Castellana, O Resta European respiratory review 24 (138), 607-620, 2015 | 143 | 2015 |
| Sex chromosome loss, micronuclei, sister chromatid exchange and aging: a study including 16 centenarians N Bukvic, M Gentile, F Susca, M Fanelli, G Serio, L Buonadonna, ... Mutation Research/Genetic Toxicology and Environmental Mutagenesis 498 (1-2 …, 2001 | 134 | 2001 |
| MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement F Brancati, M Iannicelli, L Travaglini, A Mazzotta, E Bertini, E Boltshauser, ... Human mutation 30 (2), E432-E442, 2009 | 130 | 2009 |
| Combining point-of-care diagnostics and internet of medical things (IoMT) to combat the COVID-19 pandemic T Yang, M Gentile, CF Shen, CM Cheng Diagnostics 10 (4), 224, 2020 | 124 | 2020 |
| Universal neonatal hearing screening: the Siena (Italy) experience on 19,700 newborns B De Capua, D Costantini, C Martufi, G Latini, M Gentile, C De Felice Early human development 83 (9), 601-606, 2007 | 119 | 2007 |
| Non-syndromic multiple supernumerary teeth in a family unit with a normal karyotype: case report F Inchingolo, M Tatullo, FM Abenavoli, M Marrelli, AD Inchingolo, ... International journal of medical sciences 7 (6), 378, 2010 | 112 | 2010 |
| Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature G Castellana, M Gentile, R Castellana, P Fiorente, V Lamorgese American journal of medical genetics 111 (2), 220-224, 2002 | 112 | 2002 |
| Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies M Iannicelli, F Brancati, S Mougou‐Zerelli, A Mazzotta, S Thomas, ... Human mutation 31 (5), E1319-E1331, 2010 | 111 | 2010 |
| Common arterial trunk in the fetus: characteristics, associations, and outcome in a multicentre series of 23 cases P Volpe, D Paladini, M Marasini, AL Buonadonna, MG Russo, G Caruso, ... Heart 89 (12), 1437-1441, 2003 | 110 | 2003 |
| STK11 Mutations in Peutz-Jeghers Syndrome and Sporadic Colon Cancer N Resta, C Simone, C Mareni, M Montera, M Gentile, F Susca, R Gristina, ... Cancer Research 58 (21), 4799-4801, 1998 | 109 | 1998 |
| Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function AR Paciorkowski, LL Thio, JA Rosenfeld, M Gajecka, CA Gurnett, ... European Journal of Human Genetics 19 (12), 1238-1245, 2011 | 103 | 2011 |
| 22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs P Volpe, M Marasini, G Caruso, A Marzullo, AL Buonadonna, P Arciprete, ... Prenatal Diagnosis: Published in Affiliation With the International Society …, 2003 | 100 | 2003 |
| Two‐and four‐dimensional echocardiography with B‐flow imaging and spatiotemporal image correlation in prenatal diagnosis of isolated total anomalous pulmonary venous connection P Volpe, G Campobasso, V De Robertis, S Di Paolo, G Caruso, ... Ultrasound in Obstetrics and Gynecology: The Official Journal of the …, 2007 | 94 | 2007 |
