Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
2021 · Human Genetics and Genomics Advances · 152 citations
https://doi.org/10.1016/j.xhgg.2021.100075
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Justine Rousseau
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Justine Rousseau is an academic researcher from Centre Hospitalier Universitaire Sainte-Justine. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Chromatin Remodeling and Cancer. The author has an h-index of 31, co-authored 67 publications.
ORCID: 0000-0002-3554-2673Papers by this author
worksCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2018 · Nature Communications · 118 citations
https://doi.org/10.1038/s41467-018-06014-6
Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns
2021 · Nucleic Acids Research · 34 citations
https://doi.org/10.1093/nar/gkab118
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