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Elisabetta Di Fede

University of Milan

13

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46

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Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome.

2021 International Journal of Molecular Sciences
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Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome.

2021 Cell death discovery
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SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome.

2021 American Journal of Medical Genetics Part A
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Exogenous and endogenous HDAC inhibitor effects in Rubinstein-Taybi syndrome models

2020 bioRxiv
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Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.

2020 Stem Cell Research
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Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.

2020 Journal of Medical Genetics
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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.

2020 European Journal of Human Genetics
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Author response for "Chromatinopathies: a focus on Cornelia de Lange Syndrome"

2019
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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

2019 Human Genetics
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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

2019 Default journal
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