Associated Papers
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.
Chen E et al.
Genetics, 2025
40546018 (PubMed )
Supplement: iyaf121_supplementary_data.zip › Supplemental_Data_1_GENETICS-2025-308053.xlsx › Variant_Info
Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.
Zhang Q et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30405208 (PubMed )
Supplement: 41436_2018_348_MOESM3_ESM.xlsx › Sheet1
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_
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Vacca M et al.
Journal of Molecular Medicine (berlin, Germany), 2001
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