Marco Ferilli | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Dominantly acting variants in vacuolar ATPase subunits impair lysosomal/autophagolysosome function causing a multisystemic disorder with neurocognitive impairment and multiple congenital anomalies	HGG ADVANCES	2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis	EUROPEAN JOURNAL OF HUMAN GENETICS	2024
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism	EUROPEAN JOURNAL OF HUMAN GENETICS	2024
DNA methylation signature classification of rare disorders using publicly available methylation data	CLINICAL GENETICS	2023
Identification of a robust DNA methylation signature for Fanconi anemia	AMERICAN JOURNAL OF HUMAN GENETICS	2023
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome	HUMAN MOLECULAR GENETICS	2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders	HUMAN MUTATION	2022
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants	GENES	2022
Adult-onset KMT2B-related dystonia	BRAIN COMMUNICATIONS	2022