John M. Parant

This study characterizes a zebrafish ebf3a mutant, revealing brain size reduction, functional impairments, and gene expression changes in sensory systems and the cerebellum.

This paper describes the generation of zebrafish models carrying specific human disease variants using CRISPR/Cas9 and ssODNs, with methods to evaluate HDR efficiency and genotype F1 animals.

The paper identifies an evolutionarily conserved genetic interaction between nphp-4 and bbs-5 mutations that exacerbates ciliopathy phenotypes across C. elegans, zebrafish, and mice.

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.