Author

M. Pahl

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Open access Sep 2026

Identifying Putative Pathogenic Non-Coding Variants in Unresolved Rare Disease Patients Using Topologically Associated Domains

The GAVURD system serves an important role in prioritizing candidate non-coding causal variants for unresolved rare disease that can serve as the high value and informed focus of additional functional follow-up studies.

Anthony M. Gacita, M. Pahl, Manuel Diz Torres et al. · bioRxiv · 0 citations

Open access Jul 2026

Cross-species variant-to-function analyses implicate MEIS1 in conferring sleep abnormalities and impaired cerebellar development.

Zebrafish is established as an efficient vertebrate platform for functional interrogation of GWAS candidates and an evolutionarily conserved cerebellar role for MEIS1 in sleep maintenance is supported, indicating conserved regulatory architecture spanning the human insomnia-associated locus.

A. Zimmerman, Erika Almeraya Del Valle, M. Pahl et al. · Genome Research · 0 citations