MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
2020 · Cell Reports · 57 citations
https://doi.org/10.1016/j.celrep.2020.107647
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Ilaria Parenti
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Ilaria Parenti is an academic researcher from Essen University Hospital. The author has contributed to research in topics: Genomics and Chromatin Dynamics & RNA Research and Splicing & Genomics and Rare Diseases. The author has an h-index of 22, co-authored 46 publications.
ORCID: 0000-0002-1825-6237Papers by this author
worksSystematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
2022 · Nature Communications · 43 citations
https://doi.org/10.1038/s41467-022-34264-y
STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling
2025 · iScience · 0 citations
https://doi.org/10.1016/j.isci.2025.114195
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