Author

T. Niranjan

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Aug 2026

Abidi Syndrome and Another Family With X-Linked Intellectual Disability Have TAF1 Variants and Reduced Phosphorylation of RNA Polymerase II Associated Protein 74.

The phenotypic spectrum of TAF1-related XLID is expanded and reduced RAP74 phosphorylation as a potential mechanism is implicates.

Mei Han, F. Abidi, C. Skinner et al. · American Journal of Medical... · 0 citations

Aug 2026

Early clinical prediction of neurodevelopmental outcome in KCNQ2-related disorders

These prediction models demonstrate the feasibility of early prognostication in KCNQ2-RD and support future prospective external validation and enable more accurate individualised counselling by integrating clinical and genetic information readily available at time of genetic diagnosis.

E. Van Boxstael, C. Millevert, M. Hairabedian et al. · medRxiv · 0 citations