Genetic predisposition to hemophagocytic lymphohistiocytosis: report on 500 patients from the Italian registry V Cetica, E Sieni, D Pende, C Danesino, C De Fusco, F Locatelli, ... Journal of Allergy and Clinical Immunology 137 (1), 188-196. e4, 2016 | 182 | 2016 |
Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning E Sieni, V Cetica, Y Hackmann, ML Coniglio, M Da Ros, B Ciambotti, ... Frontiers in immunology 5, 167, 2014 | 125 | 2014 |
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations V Cetica, S Chiari, D Mei, E Parrini, L Grisotto, C Marini, D Pucatti, ... Neurology 88 (11), 1037-1044, 2017 | 116 | 2017 |
Molecular basis of familial hemophagocytic lymphohistiocytosis V Cetica, D Pende, GM Griffiths, M Aricò Haematologica 95 (4), 538, 2010 | 107 | 2010 |
Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series E Sieni, V Cetica, A Piccin, F Gherlinzoni, FC Sasso, M Rabusin, L Attard, ... Public Library of Science 7 (9), e44649, 2012 | 104 | 2012 |
Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis type 3 E Sieni, V Cetica, A Santoro, K Beutel, E Mastrodicasa, M Meeths, ... Journal of medical genetics 48 (5), 343-352, 2011 | 102 | 2011 |
Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency B Tesi, E Sieni, C Neves, F Romano, V Cetica, AI Cordeiro, S Chiang, ... Journal of Allergy and Clinical Immunology 135 (6), 1638-1641. e5, 2015 | 87 | 2015 |
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5 V Cetica, A Santoro, KC Gilmour, E Sieni, K Beutel, D Pende, ... Journal of medical genetics 47 (9), 595-600, 2010 | 80 | 2010 |
Diagnostic implications of genetic copy number variation in epilepsy plus A Coppola, E Cellini, H Stamberger, E Saarentaus, V Cetica, D Lal, ... Epilepsia 60 (4), 689-706, 2019 | 73 | 2019 |
Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies D Mei, V Cetica, C Marini, R Guerrini Epilepsia 60, S2-S7, 2019 | 70 | 2019 |
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding V Cetica, Y Hackmann, S Grieve, E Sieni, B Ciambotti, ML Coniglio, ... Journal of Allergy and Clinical Immunology 135 (5), 1310-1318. e1, 2015 | 55 | 2015 |
Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity E Sieni, V Cetica, E Mastrodicasa, D Pende, L Moretta, G Griffiths, M Aricò Cellular and Molecular Life Sciences 69, 29-40, 2012 | 55 | 2012 |
Statistical analysis of individual assignment tests among four cattle breeds using fifteen STR loci R Ciampolini, V Cetica, E Ciani, E Mazzanti, X Fosella, F Marroni, ... Journal of Animal Science 84 (1), 11-19, 2006 | 54 | 2006 |
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome L Giunti, V Cetica, U Ricci, S Giglio, I Sardi, M Paglierani, E Andreucci, ... European journal of human genetics 17 (7), 919-927, 2009 | 52 | 2009 |
Embryonal tumor with abundant neuropil and true rosettes: morphological, immunohistochemical, ultrastructural and molecular study of a case showing features of … AM Buccoliero, F Castiglione, DR Degl'Innocenti, A Franchi, M Paglierani, ... Neuropathology 30 (1), 84-91, 2010 | 50 | 2010 |
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy C Pelorosso, F Watrin, V Conti, E Buhler, A Gelot, X Yang, D Mei, ... Human molecular genetics 28 (22), 3755-3765, 2019 | 48 | 2019 |
Pediatric brain tumors: mutations of two dioxygenases (hABH2 and hABH3) that directly repair alkylation damage V Cetica, L Genitori, L Giunti, M Sanzo, G Bernini, M Massimino, I Sardi Journal of neuro-oncology 94, 195-201, 2009 | 39 | 2009 |
Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma B Ciambotti, L Mussolin, ESG d’Amore, M Pillon, E Sieni, ML Coniglio, ... Journal of Pediatric Hematology/Oncology 36 (6), e359-e365, 2014 | 35 | 2014 |
Tumour suppressor gene TP53 mutations in atypical vascular lesions of breast skin following radiotherapy R Santi, V Cetica, A Franchi, M Pepi, AM Cesinaro, C Miracco, ... histopathology 58 (3), 455-466, 2011 | 35 | 2011 |
Pediatric rhabdoid meningioma: a morphological, immunohistochemical, ultrastructural and molecular case study AM Buccoliero, F Castiglione, DR Degl'Innocenti, A Franchi, M Sanzo, ... Neuropathology 31 (1), 59-65, 2011 | 33 | 2011 |