Hunter Genetics

Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease

Revised ACGS variant classification guidelines 2026.

AI-Guided Systems Neurogenomics in Neurodevelopmental Disorders

Despite substantial advances in genomic testing, many individuals with neurodevelopmental disorders remain without a molecular diagnosis, while others receive a genetic diagnosis that does not fully explain phenotypic variability, developmental trajectory or tissue-specific conse...

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

Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...