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Neuro-Oncology Advances|May 18, 2026
A methylome-based score to predict survival after regorafenib in recurrent glioblastomaSilvia Chiesa, Evelina Miele, Sara Patrizi, et al.Brain Communications|December 9, 2022
Adult-onset KMT2B-related dystoniaEdoardo Monfrini, Andrea Ciolfi, Francesco Cavallieri, et al.Clinical Epigenetics|January 4, 2024
Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile populationSara Patrizi, Evelina Miele, Lorenza Falcone, et al.European Journal of Human Genetics : EJHG|March 26, 2024
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicismMarcello Niceta, Andrea Ciolfi, Marco Ferilli, et al.International Journal of Cancer|December 15, 2020
Upfront treatment with mTOR inhibitor everolimus in pediatric low-grade gliomas: A single-center experienceAntonella Cacchione, Mariachiara Lodi, Andrea Carai, et al.Haematologica|November 20, 2023
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorderChloé Arfeuille, Yoann Vial, Margaux Cadenet, et al.European Journal of Human Genetics : EJHG|June 6, 2025
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvementDavide Leardini, Elisabetta Flex, Elliot Stieglitz, et al.Journal of Clinical Immunology|October 14, 2023
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype AssociationSamuele Roncareggi, Katia Girardi, Francesca Fioredda, et al.Neuropathology and Applied Neurobiology|July 13, 2026
Utility of Optical Genome Mapping in the Characterisation of the Global Genomic Architecture of Paediatric Central Nervous System Tumours: A Pilot StudyViola Alesi, Silvia Genovese, Serena Russo, et al.Clinical Epigenetics|August 12, 2021
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profileAndrea Ciolfi, Aidin Foroutan, Alessandro Capuano, et al.Pageof 5