James A. Poulter

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

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

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

The paper introduces a cost-effective smMIPs panel for genetic analysis of RP and LCA, achieving a 56% diagnostic yield comparable to WES.

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.

The paper identifies new pathogenic variants in the MMP20 gene associated with autosomal recessive amelogenesis imperfecta and explores their genetic origins across different populations.

The paper identifies new pathogenic GRK1 variants in Oguchi disease and evaluates their impact on protein structure using bioinformatics tools.

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

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.