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

Clinical deep sequencing, when performed using an affected tissue sample, has high diagnostic yield and clinical utility for individuals with MCDs, especially dysplasia phenotypes, and epilepsy, and support implementation of clinical deep sequencing for this population, especially as the genetic diagnoses have implicat...

K. Stone, G. Prinzing, A. Lai et al. · medRxiv · 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