Author

M. Lek

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Review Open access Jul 2026

Comprehensive Mapping of SGCA Variant Effects Reveals Domain-Specific Constraints Relevant to Sarcoglycanopathies

A comprehensive functional atlas is generated that distinguishes tolerated and damaging variants, aligning with independent genetic and clinical evidence, and reveals domain-specific properties of the cytoplasmic region, in which C-terminal truncating variants retain membrane localization, suggesting possible pathogeni...

Shushu Huang, Kenneth K. Ng, Yan-Yu Lu et al. · bioRxiv · 0 citations

Open access Jul 2026

Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease

TrioMix-UPD, an integrated short- and long-read sequencing framework for UPD detection and classification, is developed and established UPD as an underrecognized contributor to CHD.

Nahyun Kong, Javier Abello, Christopher J. Yoon et al. · Research Square · 0 citations