Luis Bermúdez-Guzmán

Prevalence of Colorectal Cancer Molecular Profiles Is Not Captured by a Single Age Threshold

This study shows that age thresholds do not accurately capture molecular profile prevalence in colorectal cancer, finding non-linear and opposing age trajectories for different profiles.

Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain

The paper describes the prenatal phenotype of PNKP-related primary microcephaly and characterizes the effects of variants using RNA analysis and structural modeling.

Mutational Survivorship Bias: The case of PNKP

The paper identifies a survivorship bias in mutational analysis of PNKP, showing the phosphatase domain is less mutation-tolerant despite being less associated with disease.