Sukyeong Lee

This study shows that pathogenic ATAD3A mutations disrupt the RagC/D-TFEB axis, leading to lysosomal dysfunction and neurodevelopmental defects.

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

This paper develops a few-shot learning framework for cryo-EM micrograph classification using triplet loss embeddings, achieving competitive performance with minimal labeled examples.