Author

Wendy K. Chung

2 papers indexed here

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Open access Sep 2026

Genotype-Phenotype Associations in Pediatric Hypertrophic Cardiomyopathy: A Study from The Pediatric Cardiomyopathy Registry

Background: Genotype-phenotype correlations in pediatric HCM are not well established. Determining whether specific genes or variants correlate with disease severity may impact clinical care. Objectives: To identify associations between pathogenic genetic variants in pediatric HCM and echocardiographic maximal left ven...

E. Pahl, Stephanie M. Ware, Ling Shi et al. · JACC. Heart failure · 1 citation

Open access Sep 2026

Integrating Single-Molecule Variant Phenotyping with Clinical Features Predicts Outcomes in KIF1A-Associated Neurological Disorder

Using KIF1A-associated neurological disorder (KAND) as a model system, single-molecule biophysical phenotyping of 91 pathogenic variants with longitudinal clinical characterization of 343 patients offers a prognostic tool and a stratification strategy for clinical trials.

Lu Rao, Wen-Xing Li, Jessica Waxler et al. · medRxiv · 0 citations