Milani Donatella

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter / S. Castiglioni, L. Pezzoli, L. Pezzani, A. Lettieri, E. Di Fede, A. Cereda, S. Ancona, A. Gallina, E.A. Colombo, C. Parodi, P. Grazioli, E. Taci, D. Milani, M. Iascone, V. Massa, C. Gervasini. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - 19:1(2024 Dec 20), pp. 481.1-481.9. [10.1186/s13023-024-03507-0]

CATSHL syndrome, a new family and phenotypic expansion / S. Cannova, C. Meossi, F. Grilli, D. Milani, F. Alberti, C. Cesaretti, P.G. Marchisio, F. Crosti, L. Pezzani. - In: CLINICAL GENETICS. - ISSN 1399-0004. - 105:3(2024), pp. 313-316. [10.1111/cge.14455]

Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene / V. Tritto, F. Grilli, D. Milani, P.V. Riva. - In: NEUROGENETICS. - ISSN 1364-6745. - (2023), pp. 1-8. [Epub ahead of print] [10.1007/s10048-023-00718-8]

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes / B. Rinaldi, A. Bayat, L.G. Zachariassen, J. Sun, Y. Ge, D. Zhao, K. Bonde, L.H. Madsen, I.A.A. Awad, D. Bagiran, A. Sbeih, S.M. Shah, S. El-Sayed, S.M. Lyngby, M.G. Pedersen, C. Stenum-Berg, L.C. Walker, I. Krey, A. Delahaye-Duriez, L.T. Emrick, K. Sully, C.N. Murali, L.C. Burrage, J.A. Plaud Gonzalez, M. Parnes, J. Friedman, B. Isidor, J. Lefranc, S. Redon, D. Heron, C. Mignot, B. Keren, M. Fradin, C. Dubourg, S. Mercier, T. Besnard, B. Cogne, W. Deb, C. Rivier, D. Milani, M.F. Bedeschi, C. Di Napoli, F. Grilli, P. Marchisio, S. Koudijs, D. Veenma, E. Argilli, S.A. Lynch, P.Y.B. Au, F.E. Ayala Valenzuela, C. Brown, D. Masser-Frye, M. Jones, L. Patron Romero, W.L. Li, E. Thorpe, L. Hecher, J. Johannsen, J. Denecke, V. Mcniven, A. Szuto, E. Wakeling, V. Cruz, V. Sency, H. Wang, J. Piard, F. Kortüm, T. Herget, T. Bierhals, A. Condell, B.B. Zeev, S. Kaur, J. Christodoulou, A. Piton, C. Zweier, C. Kraus, A. Micalizzi, M. Trivisano, N. Specchio, G. Lesca, R.S. Møller, Z. Tümer, M. Musgaard, B. Gerard, J.R. Lemke, Y.S. Shi, A.S. Kristensen. - In: BRAIN. - ISSN 0006-8950. - (2023). [Epub ahead of print] [10.1093/brain/awad403]

Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology / G. Moresco, O. Rondinone, A. Mauri, J. Costanza, C. Santaniello, P. Colapietro, E. Micaglio, G. Marfia, C. Pesenti, F. Grilli, B. Rinaldi, E. Prada, G. Scuvera, R. Villa, M.F. Bedeschi, M.R. Miozzo, D. Milani, L. Fontana. - In: GENES AND GENOMICS. - ISSN 1976-9571. - (2022 Dec 01). [Epub ahead of print] [10.1007/s13258-022-01341-x]