Elisabetta Di Fede

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Gloria Negri, Pamela Magini, Donatella Milani et al. · Human Genetics · 2019 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Elisabetta Di Fede, Valentina Massa, Bartolomeo Augello et al. · European Journal of Human Genetics · 2020 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

Paolo Grazioli, Chiara Parodi, Milena Mariani et al. · Cell Death Discovery · 2021 · 21 citations · Full text

Life Sciences, Developmental Biology, Neuroscience +17

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

Gabriella Maria Squeo, Bartolomeo Augello, Valentina Massa et al. · Journal of Medical Genetics · 2020 · 20 citations

Life Sciences, Genetics, Molecular Genetics +17

Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants

Elisa Adele Colombo, Nursel Elçioğlu, Claudio Graziano et al. · Journal of Clinical Immunology · 2018 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17