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Human Molecular Genetics|September 15, 2024
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levelsSameer S Bajikar, Yehezkel Sztainberg, Alexander J Trostle, et al.Genes & Development|October 27, 2023
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levelsJian Zhou, Claudia Cattoglio, Yingyao Shao, et al.Proceedings of the National Academy of Sciences of the United States of America|January 25, 2022
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disordersJian Zhou, Hamdan Hamdan, Hari Krishna Yalamanchili, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11Thomas A Ravenscroft, Jennifer B Phillips, Elizabeth Fieg, et al.Genome Medicine|December 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expressionDavut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, et al.Pageof 2