Publications by authors named "Rebecca R Kianmahd"
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Synopsis of recent research by authors named "Rebecca R Kianmahd"
- Rebecca R Kianmahd's recent research focuses on Bohring-Opitz syndrome (BOS), a rare genetic condition associated with pathogenic variants in the ASXL1 gene, emphasizing the clinical findings and implications for tumor surveillance.
- Her 2023 study highlights the clinical manifestations observed in 39 individuals with BOS, raising awareness about the risk of Wilms tumor and the importance of monitoring for potential tumor recurrence.
- Additionally, Kianmahd's earlier work in 2022 identified a DNA methylation signature associated with BOS, providing a novel tool for the functional classification of variants in ASXL genes, which is significant for understanding neurodevelopmental syndromes linked to epigenetic regulation.
