Christopher D. Heinen

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

The paper provides structured recommendations for applying the PS3/BS3 functional evidence criteria in variant interpretation using the ACMG/AMP framework, including a four-step framework and minimum control requirements.

Casilio-ME enhances CRISPR-based DNA demethylation by coupling TET1 with DNA repair factors to activate methylation-silenced genes.

The paper functionally tests MSH2 missense variants in Lynch syndrome using CRISPR-Cas9 in human embryonic stem cells to assess their impact on DNA repair and MMR function.