Author

R. Rabin

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Open access Oct 2026

De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes.

SRSF3 (SRp20), a member of the serine/arginine-rich protein family of splicing factors, plays a central role in constitutive and alternative splicing. The C-terminal arginine/serine-rich domain of SRSF3 undergoes dynamic phosphorylation cycles that regulate its subcellular localization, protein-protein interactions, an...

J. Lisfeld, I. Chinn, Bo Yuan et al. · American Journal of Human Ge... · 0 citations

Open access Sep 2026

Expanding clinical and variant spectrum of CBX1 -related syndrome: Report of three novel cases

In vitro cellular assays revealed that CBX1 p.(Cys60Gly) variant showed an intermediate cellular phenotype between the wild type and the CBX1 p.(Leu40Pro) and p.(Cys60Arg) variants, suggesting a possible genotype-phenotype correlation.

Graciela Carrillo, Shuhei Fujino, Harrison Higgs et al. · medRxiv · 0 citations

Open access Aug 2026

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.

Debora Tibbe, Christina Kiel, Olena Ielesicheva et al. · Genome Medicine · 0 citations