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Orphanet Journal of Rare Diseases|March 25, 2023
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature reviewEleana Rraku, Wilhelmina S Kerstjens-Frederikse, Morris A Swertz, et al.
American Journal of Medical Genetics. Part A|March 13, 2025
Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional ViewsEleana Rraku, Aafke Engwerda, Tyler D Medina, et al.
Human Mutation|January 5, 2026
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome DeletionsEleana Rraku, Tyler D Medina, Conny M A van Ravenswaaij-Arts, et al.
Orphanet Journal of Rare Diseases|March 20, 2023
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availabilityAafke Engwerda, Barbara Frentz, Eleana Rraku, et al.
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