Author

A. Sanchis-Juan

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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 Sep 2026

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

RGP demonstrates that a research-based, patient-driven remote sequencing study can effectively bridge a diagnostic gap for rare disease families underserved in current clinical care and underscores the clinical utility of GS with frequent re-analysis.

A. O'Donnell-Luria, S. DiTroia, Melanie C. O'Leary et al. · medRxiv · 0 citations

Open access Aug 2026

Rare variation illuminates the distinct and pleiotropic genetic architecture of autism across neuropsychiatric traits

This study finds that rare variants across hundreds of genes contribute to autism with variable phenotypic outcomes, and clusters them based on association evidence from large-scale studies of developmental disorders, schizophrenia, bipolar disorder, and epilepsy.

F. Satterstrom, C. Auwerx, J.-M. Fu et al. · medRxiv · 1 citation