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Author

K. Bowling

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Open access Sep 2026

Clinical deep sequencing to diagnose pathogenic mosaic variants in malformations of cortical development and epilepsy

Background and Objectives: Deep sequencing of brain tissue in the research setting has established that mosaic variants are a major cause of malformations of cortical development (MCDs) and epilepsy. However, genetic testing in the clinical setting primarily detects germline variants using clinically accessible samples...

K. Stone, G. Prinzing, A. Lai et al. · 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. · 0 citations

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