FALLERINI CHIARA | Professor page

Pasquinelli, E., Casamassima, G., Brunelli, G., Belakhdar, O., Minetto, S., Grosso, S., et al. (2025). Rare variants modulating phenotype in NF1 carriers. SCIENTIFIC REPORTS, 15(1) [10.1038/s41598-025-09751-z]. - view more
German, D., Steven, L., Annalaura, T., Giulio, P., Marcello, S., Manuela, M., et al. (2024). Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. EUROPEAN JOURNAL OF HUMAN GENETICS, 32(8), 998-1004 [10.1038/s41431-024-01637-4]. - view more
Johansson, L.F., Laurie, S., Spalding, D., Gibson, S., Ruvolo, D., Thomas, C., et al. (2024). An interconnected data infrastructure to support large-scale rare disease research. GIGASCIENCE, 13 [10.1093/gigascience/giae058]. - view more
Esposito, M., Minnai, F., Copetti, M., Miscio, G., Perna, R., Piepoli, A., et al. (2024). Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response. COMMUNICATIONS MEDICINE, 4(1) [10.1038/s43856-024-00490-2]. - view more
Mazel, B., Delanne, J., Garde, A., Racine, C., Bruel, A., Duffourd, Y., et al. (2024). FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development. AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS, 195(6) [10.1002/ajmg.b.32970]. - view more