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Ryan Doan

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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. · 0 citations
Review Aug 2026

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

Neurodevelopmental disorders encompass a large group of conditions, many of which can be explained by genetic variants. KIRREL3 has previously been associated with neurodevelopmental disorders and is expressed in the developing human basal ganglia and amygdala. Through GeneMatcher, which allows clinicians, families, an...

Priyanka R Narayan, Sabah Sabir, Divya Jayvas et al. · 0 citations

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