| Guidelines for the use and interpretation of assays for monitoring autophagy DJ Klionsky, et al Autophagy 12 (1), 1-222, 2016 | 14019* | 2016 |
| A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia syndrome type 2B and sporadic medullary thyroid carcinoma RMW Hofstra, RM Landsvater, I Ceccherini, RP Stulp, T Stelwagen, Y Luo, ... Nature 367, 375-6, 1994 | 1437* | 1994 |
| Hirschsprung disease, associated syndromes and genetics: a review J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, ... Journal of medical genetics 45 (1), 1-14, 2008 | 1017 | 2008 |
| SOX10 mutations in patients with Waardenburg-Hirschsprung disease V Pingault, N Bondurand, K Kuhlbrodt, DE Goerich, MO Préhu, A Puliti, ... Nature genetics 18 (2), 171-173, 1998 | 969 | 1998 |
| Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease G Romeo, P Ronchetto, Y Luo, V Barone, M Seri, I Ceccherini, B Pasini, ... Nature 367 (6461), 377-378, 1994 | 878 | 1994 |
| An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis, diagnosis, and management DE Weese-Mayer, EM Berry-Kravis, I Ceccherini, TG Keens, ... American journal of respiratory and critical care medicine 181 (6), 626-644, 2010 | 560 | 2010 |
| Classification criteria for autoinflammatory recurrent fevers M Gattorno, M Hofer, S Federici, F Vanoni, F Bovis, I Aksentijevich, ... Annals of the rheumatic diseases 78 (8), 1025-1032, 2019 | 421 | 2019 |
| PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central … I Matera, T Bachetti, F Puppo, M Di Duca, F Morandi, GM Casiraghi, ... Journal of medical genetics 41 (5), 373-380, 2004 | 322 | 2004 |
| Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability ES Emison, M Garcia-Barcelo, EA Grice, F Lantieri, J Amiel, G Burzynski, ... The American Journal of Human Genetics 87 (1), 60-74, 2010 | 281 | 2010 |
| ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study R Caorsi, F Penco, A Grossi, A Insalaco, A Omenetti, M Alessio, G Conti, ... Annals of the rheumatic diseases 76 (10), 1648-1656, 2017 | 270 | 2017 |
| Guidelines for the genetic diagnosis of hereditary recurrent fevers Y Shinar, L Obici, I Aksentijevich, B Bennetts, F Austrup, I Ceccherini, ... Annals of the rheumatic diseases 71 (10), 1599-1605, 2012 | 256 | 2012 |
| A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children M Gattorno, MP Sormani, A d'Osualdo, MA Pelagatti, F Caroli, S Federici, ... Arthritis & Rheumatism: Official Journal of the American College of …, 2008 | 242 | 2008 |
| Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene AV Marzano, V Trevisan, M Gattorno, I Ceccherini, C De Simone, C Crosti JAMA dermatology 149 (6), 762-764, 2013 | 227 | 2013 |
| RET mutations in human disease B Pasini, I Ceccherini, G Romeo Trends in genetics 12 (4), 138-144, 1996 | 221 | 1996 |
| Differentiating PFAPA syndrome from monogenic periodic fevers M Gattorno, R Caorsi, A Meini, M Cattalini, S Federici, F Zulian, E Cortis, ... Pediatrics 124 (4), e721-e728, 2009 | 215 | 2009 |
| Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence. C Romei, R Elisei, A Pinchera, I Ceccherini, E Molinaro, F Mancusi, ... The Journal of Clinical Endocrinology & Metabolism 81 (4), 1619-1622, 1996 | 205 | 1996 |
| Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16 AOM Wilkie, DR Higgs, KA Rack, VJ Buckle, NK Spurr, ... Cell 64 (3), 595-606, 1991 | 203 | 1991 |
| Clinical presentation and pathogenesis of cold‐induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation S Borghini, S Tassi, S Chiesa, F Caroli, S Carta, R Caorsi, M Fiore, ... Arthritis & Rheumatism 63 (3), 830-839, 2011 | 200 | 2011 |
| DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. I Ceccherini, RM Hofstra, Y Luo, RP Stulp, V Barone, T Stelwagen, ... Oncogene 9 (10), 3025-3029, 1994 | 200 | 1994 |
| Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis) AV Marzano, G Damiani, I Ceccherini, E Berti, M Gattorno, M Cugno British Journal of Dermatology 176 (6), 1588-1598, 2017 | 194 | 2017 |
