Author

Renata Szalai

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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

Open access Aug 2026

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort

The identification of novel variants enhances molecular understanding and facilitates more precise genotype-phenotype correlations, reinforcing the value of comprehensive genomic diagnostics in epilepsy management and demonstrating the clinical utility of gene panels and WES in complex phenotypes.

Renata Szalai, Á. Till, Krisztina Galimurka et al. · Human Genetics · 0 citations