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
M
Mouna Barat‐Houari
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Mouna Barat‐Houari is an academic researcher from Université de Montpellier. The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & Connective tissue disorders research. The author has an h-index of 16, co-authored 40 publications.
ORCID: 0000-0002-6712-0053Papers by this author
worksMissense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
2022 · Genetics in Medicine · 29 citations
https://doi.org/10.1016/j.gim.2022.06.007
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
2023 · Genetics in Medicine · 2 citations
https://doi.org/10.1016/j.gim.2023.100962
Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature
2025 · Clinical Epigenetics · 0 citations
https://doi.org/10.1186/s13148-025-01879-z
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