| Mutations of the Igβ gene cause agammaglobulinemia in man S Ferrari, V Lougaris, S Caraffi, R Zuntini, J Yang, A Soresina, A Meini, ... The Journal of experimental medicine 204 (9), 2047-2051, 2007 | 108 | 2007 |
| 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 | 86 | 2018 |
| Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients L Garavelli, I Ivanovski, SG Caraffi, D Santodirocco, M Pollazzon, ... Genetics in Medicine 19 (6), 691-700, 2017 | 59 | 2017 |
| Human cytomegalovirus DNA polymerase catalytic subunit pUL54 possesses independently acting nuclear localization and ppUL44 binding motifs G Alvisi, A Ripalti, A Ngankeu, M Giannandrea, SG Caraffi, MM Dias, ... Traffic 7 (10), 1322-1332, 2006 | 42 | 2006 |
| Different molecular behavior of CD40 mutants causing hyper-IgM syndrome G Lanzi, S Ferrari, M Vihinen, S Caraffi, N Kutukculer, L Schiaffonati, ... Blood, The Journal of the American Society of Hematology 116 (26), 5867-5874, 2010 | 37 | 2010 |
| NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain S Liu, KA Aldinger, CV Cheng, T Kiyama, M Dave, HK McNamara, ... Molecular cell 81 (22), 4663-4676. e8, 2021 | 35 | 2021 |
| Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency F Rucci, PL Poliani, S Caraffi, T Paganini, E Fontana, S Giliani, FW Alt, ... Frontiers in immunology 2, 15, 2011 | 28 | 2011 |
| The angiogenic asset of soft tissue sarcomas: a new tool to discover new therapeutic targets L Rocchi, S Caraffi, R Perris, D Mangieri Bioscience Reports 34 (6), e00147, 2014 | 24 | 2014 |
| Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes I Ivanovski, S Akbaroghli, M Pollazzon, C Gelmini, SG Caraffi, M Mansouri, ... American journal of medical genetics Part A 176 (5), 1166-1174, 2018 | 21 | 2018 |
| Mowat-Wilson syndrome: growth charts I Ivanovski, O Djuric, S Broccoli, SG Caraffi, P Accorsi, MP Adam, K Avela, ... Orphanet journal of rare diseases 15, 1-12, 2020 | 16 | 2020 |
| Severe peripheral joint laxity is a distinctive clinical feature of spondylodysplastic-Ehlers-Danlos syndrome (EDS)-B4GALT7 and spondylodysplastic-EDS-B3GALT6 SG Caraffi, I Maini, I Ivanovski, M Pollazzon, S Giangiobbe, M Valli, ... Genes 10 (10), 799, 2019 | 16 | 2019 |
| Alazami syndrome: The first case of papillary thyroid carcinoma I Ivanovski, SG Caraffi, E Magnani, S Rosato, M Pollazzon, L Matalonga, ... Journal of Human Genetics 65 (2), 133-141, 2020 | 14 | 2020 |
| The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects C Tran, L Turolla, D Ballhausen, SC Buros, T Teav, H Gallart-Ayala, ... Molecular Genetics and Metabolism Reports 28, 100777, 2021 | 13 | 2021 |
| Clinical manifestations in a girl with naa10-related syndrome and genotype–phenotype correlation in females I Maini, SG Caraffi, F Peluso, L Valeri, D Nicoli, S Laurie, C Baldo, ... Genes 12 (6), 900, 2021 | 13 | 2021 |
| Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies S Giangiobbe, SG Caraffi, I Ivanovski, I Maini, M Pollazzon, S Rosato, ... American Journal of Medical Genetics Part A 182 (12), 2877-2886, 2020 | 13 | 2020 |
| Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B … S Rizzi, C Spagnoli, GG Salerno, D Frattini, SG Caraffi, G Trimarchi, ... American Journal of Medical Genetics Part A 182 (11), 2675-2679, 2020 | 13 | 2020 |
| Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11 ML De Bernardi, I Ivanovski, SG Caraffi, I Maini, ME Street, A Bayat, ... American Journal of Medical Genetics Part A 176 (9), 1991-1995, 2018 | 13 | 2018 |
| Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy C Spagnoli, L Soliani, SG Caraffi, M Baga, S Rizzi, GG Salerno, D Frattini, ... Parkinsonism & related disorders 76, 54-55, 2020 | 11 | 2020 |
| Adducted thumb and peripheral polyneuropathy: diagnostic supports in suspecting white–sutton syndrome: case report and review of the literature G Trimarchi, SG Caraffi, FC Radio, S Barresi, G Contrò, S Pizzi, I Maini, ... Genes 12 (7), 950, 2021 | 10 | 2021 |
| Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and … I Maini, I Ivanovski, O Djuric, SG Caraffi, E Errichiello, M Marinelli, ... Italian Journal of Pediatrics 44, 1-13, 2018 | 9 | 2018 |
