Conny M.A. van Ravenswaaij‐Arts

Developing Del2Phen: a novel phenotype description tool for chromosome deletions

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

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

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 phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

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.

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

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.

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

Improving the diagnostic yield of exome-sequencing, by predicting gene-phenotype associations using large-scale gene expression analysis

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.