Wilhelmina S. Kerstjens‐Frederikse

This study analyzes a large cohort of individuals with terminal 6q deletions to identify a common phenotype linked to the DLL1 gene and highlights the variability associated with larger deletions involving QKI.

The paper analyzes the phenotypic spectrum of terminal and subterminal 6p deletions using a social media-derived cohort and literature review, identifying common and subgroup-specific features.

This study compares parent-reported phenotype data on chromosome 6 disorders to medical file data and literature, finding high consistency and greater data availability through parent reports.

CAPICE is a machine learning method that prioritizes pathogenic variants in exomes, outperforming existing tools for rare and ultra-rare variants.

This paper introduces GADO, a tool that uses gene expression data to predict gene-phenotype associations and improve diagnostic yield in exome sequencing by prioritizing variants in patients with unknown genetic diagnoses.