Robert Anthony Hirst

The paper introduces WS6 to enhance ex vivo expansion and gene editing of epithelial basal stem cells, enabling disease modeling and regenerative medicine applications.

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

This study shows that whole genome sequencing (WGS) can achieve a high diagnostic rate for primary ciliary dyskinesia by identifying structural variants and novel disease genes.

This paper develops an in-silico and functional analysis framework to identify splicing mutations in rare genomic disorders, finding that SpliceAI prioritization improves diagnostic clarity and yield.

The paper identifies biallelic LRRC56 mutations causing ciliary dysfunction and laterality defects in two families, linking LRRC56 to intraflagellar transport and dynein arm assembly.

The paper uses whole genome sequencing to identify disease-causing variants in non-coding regions of genes, confirming diagnoses of Cystic Fibrosis and Primary Ciliary Dyskinesia.