| Mowat–Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature L Garavelli, M Zollino, PC Mainardi, F Gurrieri, F Rivieri, F Soli, R Verri, ... American Journal of Medical Genetics Part A 149 (3), 417-426, 2009 | 116 | 2009 |
| Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care I Ivanovski, O Djuric, SG Caraffi, D Santodirocco, M Pollazzon, S Rosato, ... Genetics in Medicine 20 (9), 965-975, 2018 | 85 | 2018 |
| Reversible inhibition of a thyroid-specific trans-acting factor by Ras. VE Avvedimento, AM Musti, M Ueffing, S Obici, A Gallo, M Sanchez, ... Genes & development 5 (1), 22-28, 1991 | 67 | 1991 |
| Therapeutic approach to bronchiolitis: why pediatricians continue to overprescribe drugs? D De Brasi, F Pannuti, F Antonelli, F de Seta, P Siani, L de Seta Italian journal of pediatrics 36 (1), 67, 2010 | 59 | 2010 |
| Identification of three novel SEDL mutations, including mutation in the rare, non‐canonical splice site of exon 4 MA Shaw, N Brunetti‐Pierri, L Kadasi, V Kovacova, L Van Maldergem, ... Clinical genetics 64 (3), 235-242, 2003 | 58 | 2003 |
| Case of Myhre syndrome with autism and peculiar skin histological findings L Titomanlio, MG Marzano, E Rossi, M D'Armiento, D De Brasi, GR Vega, ... American journal of medical genetics 103 (2), 163-165, 2001 | 45 | 2001 |
| Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations D De Brasi, T Esposito, M Rossi, G Parenti, MP Sperandeo, A Zuppaldi, ... European Journal of Human Genetics 7 (8), 937-940, 1999 | 40 | 1999 |
| Inv dup del (1)(pter→ q44:: q44→ q42:) with the classical phenotype of trisomy 1q42–qter D De Brasi, E Rossi, S Giglio, A D'Agostino, L Titomanlio, V Farina, ... American journal of medical genetics 104 (2), 127-130, 2001 | 38 | 2001 |
| Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene L Titomanlio, D De Brasi, A Buoninconti, MP Sperandeo, A Pepe, ... Clinical genetics 65 (2), 156-157, 2004 | 35 | 2004 |
| Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8 D DeBrasi, M Genuardi, A D'Agostino, F Calvieri, C Tozzi, S Varrone, ... Human genetics 95, 519-525, 1995 | 30 | 1995 |
| Holt–Oram syndrome associated with anomalies of the feet L Garavelli, D De Brasi, R Verri, E Guareschi, F Cariola, D Melis, ... American journal of medical genetics Part A 146 (9), 1185-1189, 2008 | 29 | 2008 |
| Partial cerebellar hypoplasia in a patient with Prader‐Willi syndrome L Titomanlio, D De Brasi, A Romano, R Genesio, AA Diano, ... Acta Paediatrica 95 (7), 861-863, 2006 | 27 | 2006 |
| Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype G Rita, DB Daniele, C Anna, B Annamaria, DM Pasqua, DC Pasquale, ... American Journal of Medical Genetics Part A 128 (4), 422-428, 2004 | 23 | 2004 |
| Effects of sample storage on 7-and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography–mass spectrometry-selected ion monitoring G Corso, M Rossi, D De Brasi, I Rossi, G Parenti, AD Russo Journal of Chromatography B 766 (2), 365-370, 2002 | 22 | 2002 |
| Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature F Di Candia, P Fontana, P Paglia, M Falco, C Rosano, C Piscopo, ... European journal of pediatrics 181 (1), 171-187, 2022 | 21 | 2022 |
| Short stature and azoospermia in a patient with Y chromosome long arm deletion M De Rosa, D De Brasi, S Zarrilli, L Paesano, R Pivonello, A D’Agostino, ... Journal of endocrinological investigation 20, 623-628, 1997 | 19 | 1997 |
| Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy A Passariello, D De Brasi, R Defferrari, R Genesio, M Tufano, K Mazzocco, ... European Journal of Medical Genetics 56 (11), 626-634, 2013 | 17 | 2013 |
| Fibrodysplasia ossificans progressiva: a challenging diagnosis D De Brasi, F Orlando, V Gaeta, M De Liso, F Acquaviva, L Martemucci, ... Genes 12 (8), 1187, 2021 | 16 | 2021 |
| Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity MA Siano, V Marchetti, S Pagano, F Di Candia, M Alessio, D De Brasi, ... Orphanet Journal of Rare Diseases 16, 1-8, 2021 | 15 | 2021 |
| Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly VM Ginocchio, D De Brasi, R Genesio, R Ciccone, S Gimelli, F Fimiani, ... European journal of medical genetics 51 (6), 658-665, 2008 | 15 | 2008 |
