Author

Philip M. Boone

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Open access Oct 2026

Aberrant recursive splicing in a human disease locus.

Recursive splice sites are rare motifs postulated to facilitate splicing across massive introns and shape isoform diversity. The necessity of recursive splicing (RS) and its role in human disease are unsubstantiated. Here, we use CRISPR to model intronic deletions eliminating an RS site (RS1) in CADM2 and conferring ri...

Philip M. Boone, Ricardo Harripaul, Rachita Yadav et al. · Cell Reports · 0 citations

Open access Jul 2026

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling

An allelic series of CRISPR-engineered human induced pluripotent stem cell (hiPSC) clones harboring mono- and bi-allelic POGZ deletions are created and shared molecular consequences suggest key points of convergence that connect gene regulation to neuronal function in the etiology of neurodevelopmental pathologies.

M. Moyses-Oliveira, Yating Liu, Serkan Erdin et al. · HGG advances · 1 citation

Open access Jul 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Variants in BRSK2, encoding brain specific kinase-2, have recently been associated with an autosomal dominant neurodevelopmental disorder (NDD). We have assembled 52 cases with heterozygous BRSK2 variants and variable neurodevelopmental phenotypes with frequent neuropsychiatric and behavioral symptoms. The variant spec...

Palak Singhal, Tzung-Chien Hsieh, Nadja Ehmke et al. · European Journal of Human Ge... · 0 citations