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Open access Sep 2026

Identity-by-descent to resolve reduced penetrance and advance gene discovery in neurodegenerative disease.

Advances in sequencing technologies have transformed human genetics and accelerated disease gene discovery. Yet a causal mutation remains to be identified for many families with an inherited disease. Incomplete penetrance, genetic heterogeneity, and limited family history can complicate the binary classification of fam...

L. Henden, Sandrine Chan Moi Fat, Andrew N. Smith et al. · 0 citations
Open access Oct 2026

A human-induced pluripotent stem cell-derived spheroid model to investigate myelin injury and repair.

There are no currently approved therapies that promote new myelin formation after myelin damage, which can, in part, be attributed to a lack of reliable systems that can reproducibly model these processes. Here we engineered a human iPSC-derived spheroid model enriched with mature, myelinating oligodendrocytes and func...

Shwathy Ramesan, Joel Mason, Sandeep S. Kumar et al. · 0 citations

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