| A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function MT Lam, S Coppola, OHF Krumbach, G Prencipe, A Insalaco, C Cifaldi, ... Journal of Experimental Medicine 216 (12), 2778-2799, 2019 | 182 | 2019 |
| Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies M Niceta, E Stellacci, KW Gripp, G Zampino, M Kousi, M Anselmi, ... The American Journal of Human Genetics 96 (5), 816-825, 2015 | 130 | 2015 |
| Persistent episomal transgene expression in liver following delivery of a scaffold/matrix attachment region containing non-viral vector O Argyros, SP Wong, M Niceta, SN Waddington, SJ Howe, C Coutelle, ... Gene therapy 15 (24), 1593-1605, 2008 | 129 | 2008 |
| A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome V Caputo, L Cianetti, M Niceta, C Carta, A Ciolfi, G Bocchinfuso, E Carrani, ... The American Journal of Human Genetics 90 (1), 161-169, 2012 | 96 | 2012 |
| Development of S/MAR minicircles for enhanced and persistent transgene expression in the mouse liver O Argyros, SP Wong, C Fedonidis, O Tolmachov, SN Waddington, ... Journal of molecular medicine 89, 515-529, 2011 | 86 | 2011 |
| Evaluation of serum CA 125 levels in patients with pelvic pain related to endometriosis A Maiorana, C Cicerone, M Niceta, L Alio The International journal of biological markers 22 (3), 200-202, 2007 | 84 | 2007 |
| Biallelic mutations in TBCD, encoding the tubulin folding cofactor D, perturb microtubule dynamics and cause early-onset encephalopathy E Flex, M Niceta, S Cecchetti, I Thiffault, MG Au, A Capuano, E Piermarini, ... The American Journal of Human Genetics 99 (4), 962-973, 2016 | 79 | 2016 |
| Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations C Hedberg, M Niceta, F Fattori, B Lindvall, A Ciolfi, A D’Amico, G Tasca, ... Journal of neurology 261, 870-876, 2014 | 70 | 2014 |
| LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance C Dallabona, TEM Abbink, R Carrozzo, A Torraco, A Legati, ... Brain 139 (3), 782-794, 2016 | 69 | 2016 |
| DJ‐1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 M Di Nottia, M Masciullo, D Verrigni, S Petrillo, A Modoni, V Rizzo, ... Clinical genetics 92 (1), 18-25, 2017 | 64 | 2017 |
| TBCE mutations cause early-onset progressive encephalopathy with distal spinal muscular atrophy A Sferra, G Baillat, T Rizza, S Barresi, E Flex, G Tasca, A D’amico, ... The American Journal of Human Genetics 99 (4), 974-983, 2016 | 58 | 2016 |
| Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations A Nasca, T Rizza, M Doimo, A Legati, A Ciolfi, D Diodato, C Calderan, ... Orphanet journal of rare diseases 12, 1-10, 2017 | 53 | 2017 |
| SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling YC Lin, M Niceta, V Muto, B Vona, AT Pagnamenta, R Maroofian, C Beetz, ... The American Journal of Human Genetics 108 (1), 115-133, 2021 | 52 | 2021 |
| Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes A Torraco, A Ardissone, F Invernizzi, T Rizza, G Fiermonte, M Niceta, ... Journal of neurology 264, 102-111, 2017 | 49 | 2017 |
| Mutations in fibronectin cause a subtype of Spondylometaphyseal dysplasia with “corner fractures” CS Lee, H Fu, N Baratang, J Rousseau, H Kumra, VR Sutton, M Niceta, ... The American Journal of Human Genetics 101 (5), 815-823, 2017 | 46 | 2017 |
| De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder LS Blok, T Kleefstra, H Venselaar, S Maas, HY Kroes, AMA Lachmeijer, ... The American Journal of Human Genetics 105 (2), 403-412, 2019 | 43 | 2019 |
| Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia S Barresi, M Niceta, P Alfieri, V Brankovic, G Piccini, A Bruselles, ... Clinical Genetics 91 (1), 86-91, 2017 | 40 | 2017 |
| Identification of two new mutations in TRPS 1 gene leading to the tricho‐rhino‐phalangeal syndrome type I and III M Piccione, M Niceta, V Antona, A Di Fiore, F Cariola, M Gentile, ... American Journal of Medical Genetics Part A 149 (8), 1837-1841, 2009 | 40 | 2009 |
| Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants LX Zhang, G Lemire, C Gonzaga-Jauregui, S Molidperee, ... Genetics in Medicine 22 (8), 1338-1347, 2020 | 39 | 2020 |
| Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism ML Dentici, M Niceta, F Pantaleoni, S Barresi, P Bencivenga, ... American Journal of Medical Genetics Part A 173 (7), 1965-1969, 2017 | 37 | 2017 |
