Christopher O’Callaghan

3D nanoscale architecture of the respiratory epithelium reveals motile cilia-rootlets-mitochondria axis of communication

This study reveals a communication axis between motile cilia, rootlets, and mitochondria in respiratory epithelium, enhancing ciliary motility and ATP production.

Donor-derived airway ALI model for high-throughput screening of antiviral combinations with concurrent analysis of antiviral efficacy and epithelial toxicity using ciliR

The paper presents a donor-derived air-liquid interface model for screening antiviral combinations against RSV, with tools to assess efficacy and epithelial toxicity.

Antiviral drug synergy and mutational signatures in different epithelial cell models of RSV and hPIV infection

This study evaluates antiviral drug synergy and mutational signatures of RdRp inhibitors against RSV and hPIV in epithelial cell models and primary airway cultures.

WS6 enables scalable ex vivo expansion and gene editing of epithelial basal stem cells

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

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

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

High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia

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.

Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia

The paper uses whole exome sequencing to identify ciliary gene mutations in nonsyndromic biliary atresia, finding significant enrichment of deleterious variants in liver-expressed ciliary genes.

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

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.

Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

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

Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia

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.