Dorothy Concepcion

This paper identifies Mysm1 mutations as the cause of meander tail mouse cerebellum malformation and links them to hematological and neurological defects.

The paper creates a Tulp3 quantitative allelic series in mice to determine the dose-response effects of TULP3 on viability, brain development, and kidney disease, finding limited genetic interaction with Zfp423 mutations.

The paper shows that premature termination codons in Zfp423 cause different phenotypes in mice, challenging the assumption that all PTCs are functionally equivalent.

The paper shows strain-dependent survival differences in Zfp423 null mice, identifying a modifier locus on chromosome 5 that influences viability.

The paper functionally validates ZNF423 variants in mice, showing some cause midline brain abnormalities while others are benign.