| Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders MA Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, ... Human mutation 43 (11), 1609-1628, 2022 | 32 | 2022 |
| Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome M Motta, M Solman, AA Bonnard, A Kuechler, F Pantaleoni, M Priolo, ... Human Molecular Genetics 31 (16), 2766-2778, 2022 | 9 | 2022 |
| Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants M Ferilli, A Ciolfi, L Pedace, M Niceta, FC Radio, S Pizzi, E Miele, ... Genes 13 (11), 2163, 2022 | 6 | 2022 |
| Identification of a robust DNA methylation signature for Fanconi anemia D Pagliara, A Ciolfi, L Pedace, S Haghshenas, M Ferilli, MA Levy, E Miele, ... The American Journal of Human Genetics 110 (11), 1938-1949, 2023 | 2 | 2023 |
| DNA methylation signature classification of rare disorders using publicly available methylation data M Hildonen, M Ferilli, TD Hjortshøj, M Dunø, L Risom, M Bak, J Ek, ... Clinical Genetics 103 (6), 688-692, 2023 | 2 | 2023 |
| Adult-onset KMT2B-related dystonia E Monfrini, A Ciolfi, F Cavallieri, M Ferilli, P Soliveri, L Pedace, R Erro, ... Brain Communications 4 (6), fcac276, 2022 | 2 | 2022 |
| Structural and functional analysis of the active cow rumen’s microbial community provides a catalogue of genes and microbes participating in the deconstruction of cardoon biomass A Firrincieli, A Minuti, M Cappelletti, M Ferilli, P Ajmone-Marsan, P Bani, ... Biotechnology for Biofuels and Bioproducts 17 (1), 53, 2024 | | 2024 |
| DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism M Niceta, A Ciolfi, M Ferilli, L Pedace, C Cappelletti, C Nardini, ... European Journal of Human Genetics, 1-8, 2024 | | 2024 |
