Jessica B. Wagenknecht

This study introduces pseudo-haplotype analysis to characterize multi-variant configurations in BAF chromatin remodeling genes, revealing common and rare variant co-occurrence patterns across populations.

This study develops a helicase-specific variant effect predictor to classify SMARCA4 variants as damaging or tolerated, improving interpretation of genetic variants of uncertain significance.

The paper identifies ARID1B variants that impair protein interactions, stability, and regulation, linking them to neurodevelopmental disorders and cancers.

The paper classifies ABCC6 genetic variants using structural genomics to identify pathogenic mechanisms and reclassify variants of uncertain significance.

This paper identifies and annotates 85 human miniproteins using sequence analysis, computational biophysics, and structure prediction to uncover their structure-function relationships and novel biological roles.

The paper analyzes BAF complex gene co-expression across human tissues to identify tissue-specific regulatory patterns and their functional implications.

The paper uses molecular dynamics simulations to analyze 86 KRAS mutations, revealing mutation-specific conformations and functional insights not captured by current genomic tools.