Aafke Engwerda

Del2Phen is a software tool that generates phenotype descriptions for chromosome deletions by matching patients to genotypically similar individuals and using gene-phenotype relationships.

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.