Author
University Medical Center Groningen
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
3 papers
Recent·Most cited
Eleana Rraku, Tyler D. Medina, Conny M.A. van Ravenswaaij‐Arts…·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.
Aafke Engwerda, Wilhelmina S. Kerstjens‐Frederikse, Nicole Corsten‐Janssen…·Conny M.A. van Ravenswaaij‐Arts
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.
Eleana Rraku, Wilhelmina S. Kerstjens‐Frederikse, Morris A. Swertz…·Aafke Engwerda
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.