The Molecular Medicine Program is proud to celebrate Joseph Chin on the publication of his first-author research article in Human Genetics.

In this study, Joseph and his colleagues made several important discoveries that advance our understanding of genetic diagnostics in hearing loss:

• First pathogenic synonymous GSDME variants identified – highlighting the importance of carefully assessing synonymous variants in clinical genetic diagnostics.
• Variant-specific differences in aberrant splicing uncovered – demonstrating genotype-phenotype correlations between the extent of aberrant splicing and the severity of hearing loss.
• Limitations of in silico prediction tools emphasized – underscoring the need for caution when relying solely on these tools in the diagnostic setting.

The paper, “Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations,” is available open access in Human Genetics.

Citation:
Chin, J.J., Walls, W.D., Wang, K. et al. Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations. Hum. Genet. (2025). https://doi.org/10.1007/s00439-025-02782-6