Colin A. Johnson

The paper uses structural modeling to show that fibrocystin destabilization due to PKHD1 missense mutations is a key pathogenic mechanism in ARPKD, suggesting stabilization as a therapeutic target.

The paper systematically analyzes homozygous autosomal copy number losses in exomes to improve diagnostic yield and identify ultra-rare recessive disorders.

This study identifies a critical role for Prpf8 in cardiac development through aberrant splicing of Tead1 and disrupted Notch signaling in Prpf8N1531S homozygous mutant mice.

This study demonstrates that AAV-mediated PRPF31 gene therapy restores splicing homeostasis and rescues RP11 phenotypes in patient-derived RPE and retinal organoids.

The paper shows that a nonsense mutation in CCND2 stabilizes Cyclin D2 in iPSC models of MPPH, while frameshift mutations do not, affecting neurogenesis.

This study identifies PRPF8 as essential for left-right organiser cilia function and cardiac asymmetry by regulating ARL13B splicing in mice and zebrafish.

The paper identifies novel TUBA1A variants and shows reduced penetrance of malformations of cortical development in tubulinopathies.

This study investigates MEGF10's role in myoblast fusion and muscle hypertrophy, finding that it inhibits fusion and promotes satellite cell adhesion and survival.

The paper develops a machine learning classifier to identify mouse genes involved in cardiac development and prioritizes them for potential human congenital heart disease (CHD) causation.

The paper identifies regional nonsense constraint in the human genome using sequencing data, showing enriched de novo variants in constrained regions linked to rare diseases.

This study investigates how alternative splicing, specifically nonsense-associated altered splicing (NAS), affects the pathogenesis of CEP290-related ciliopathies by analyzing splicing patterns and ciliogenesis in induced pluripotent stem cells.

This study identifies UBE2E1 and MKS1 as components of the ubiquitin proteasome system regulating Wnt signaling at the primary cilium, linking ciliary defects to ciliopathy pathogenesis.

This study uses C. elegans to interpret the pathogenicity of ciliopathy-associated missense VUS by testing their functional impact on sensory cilia.

The paper identifies 285 candidate ciliary genes using integrated genomic, proteomic, and transcriptomic data, validated by experimental evidence and creating a resource for ciliopathy research.

The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.