| Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome A Sparago, F Cerrato, M Vernucci, GB Ferrero, MC Silengo, A Riccio Nature genetics 36 (9), 958-960, 2004 | 342 | 2004 |
| Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome J Bliek, G Verde, J Callaway, SM Maas, A De Crescenzo, A Sparago, ... European Journal of Human Genetics 17 (5), 611-619, 2009 | 266 | 2009 |
| The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell … N Chiesa, A De Crescenzo, K Mishra, L Perone, M Carella, O Palumbo, ... Human molecular genetics 21 (1), 10-25, 2012 | 143 | 2012 |
| Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour A Sparago, S Russo, F Cerrato, S Ferraiuolo, P Castorina, A Selicorni, ... Human molecular genetics 16 (3), 254-264, 2007 | 141 | 2007 |
| Distinct Methylation Changes at the IGF2-H19 Locus in Congenital Growth Disorders and Cancer A Murrell, Y Ito, G Verde, J Huddleston, K Woodfine, MC Silengo, ... PloS one 3 (3), e1849, 2008 | 112 | 2008 |
| Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver–Russell syndrome R Nativio, A Sparago, Y Ito, R Weksberg, A Riccio, A Murrell Human molecular genetics 20 (7), 1363-1374, 2011 | 98 | 2011 |
| The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining … J Beygo, V Citro, A Sparago, A De Crescenzo, F Cerrato, M Heitmann, ... Human molecular genetics 22 (3), 544-557, 2013 | 97 | 2013 |
| MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15. 5 imprinting defects of BWS and SRS in a single-tube experiment M Priolo, A Sparago, C Mammì, F Cerrato, C Lagana, A Riccio European journal of human genetics 16 (5), 565-571, 2008 | 96 | 2008 |
| Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour F Cerrato, A Sparago, G Verde, A De Crescenzo, V Citro, MV Cubellis, ... Human molecular genetics 17 (10), 1427-1435, 2008 | 91 | 2008 |
| The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster F Cerrato, A Sparago, ID Matteo, X Zou, W Dean, H Sasaki, P Smith, ... Human molecular genetics 14 (4), 503-511, 2005 | 79 | 2005 |
| Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR‐based method to discriminate NEMO/IKKγ dene deletion T Bardaro, G Falco, A Sparago, V Mercadante, E Gean Molins, ... Human mutation 21 (1), 8-11, 2003 | 72 | 2003 |
| ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells V Riso, M Cammisa, H Kukreja, Z Anvar, G Verde, A Sparago, B Acurzio, ... Nucleic acids research 44 (17), 8165-8178, 2016 | 64 | 2016 |
| ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells Z Anvar, M Cammisa, V Riso, I Baglivo, H Kukreja, A Sparago, M Girardot, ... Nucleic acids research 44 (3), 1118-1132, 2016 | 59 | 2016 |
| A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation H Demond, Z Anvar, BN Jahromi, A Sparago, A Verma, M Davari, ... Genome medicine 11, 1-14, 2019 | 57 | 2019 |
| Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms’ tumor A Riccio, A Sparago, G Verde, A De Crescenzo, V Citro, MV Cubellis, ... Endocrine Involvement in Developmental Syndromes 14, 1-9, 2009 | 54 | 2009 |
| Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus FM Valente, A Sparago, A Freschi, K Hill-Harfe, SM Maas, SGM Frints, ... Genetics in Medicine 21 (8), 1808-1820, 2019 | 48 | 2019 |
| Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance MV Cubellis, L Pignata, A Verma, A Sparago, R Del Prete, M Monticelli, ... Clinical epigenetics 12, 1-13, 2020 | 43 | 2020 |
| Reply to "Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor" F Cerrato, A Sparago, L Farina, GB Ferrero, MC Silengo, A Riccio Nature genetics 37 (8), 786-787, 2005 | 43 | 2005 |
| A splicing mutation of the HMGA2 gene is associated with Silver–Russell syndrome phenotype A De Crescenzo, V Citro, A Freschi, A Sparago, O Palumbo, MV Cubellis, ... Journal of human genetics 60 (6), 287-293, 2015 | 42 | 2015 |
| The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus F Court, C Camprubi, CV Garcia, A Guillaumet-Adkins, A Sparago, ... Epigenetics & Chromatin 7, 1-13, 2014 | 42 | 2014 |
