Associated Papers
Advancing precision diagnosis in autism: Insights from large-scale genomic studies.
Kim SW et al.
Molecules and Cells, 2025
Exploring the complexity of MECP2 function in Rett syndrome.
Liu Y et al.
Nature Reviews. Neuroscience, 2025
Advanced genetic therapies for the treatment of Rett syndrome: state of the art and future perspectives.
Palmieri M et al.
Frontiers in Neuroscience, 2023
Targeted RNA editing in brainstem alleviates respiratory dysfunction in a mouse model of Rett syndrome.
Sinnamon JR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
RNA Editing: A New Therapeutic Target in Amyotrophic Lateral Sclerosis and Other Neurological Diseases.
Hosaka T et al.
International Journal of Molecular Sciences, 2021
Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants.
Ganakammal SR et al.
Peerj, 2019
31799076 (PubMed )
Supplement: peerj-07-8106-s001.xlsx › RETT_syndrome_reclassification_
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