Aafke Engwerda
6PUBLICATIONS
18CO-AUTHORS
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Publications (6)
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|Jan 05, 2026
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions.Eleana Rraku, Tyler D Medina, Conny M A van Ravenswaaij-Arts
|Aug 12, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.Julia Volpi, Xiaonan Zhao, Nichole Owen
|Mar 20, 2023
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.Aafke Engwerda, Barbara Frentz, Eleana Rraku
|Mar 20, 2023
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen
|Aug 30, 2021
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.Aafke Engwerda, Erika K S M Leenders, Barbara Frentz
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Frequent Collaborators
4 joint publications
Conny M A van Ravenswaaij-Arts
2 joint publications
Wilhelmina S Kerstjens-Frederikse
1 joint publications
Tuula Rinne
1 joint publications
Maarten P van den Berg
1 joint publications
Patrick Deelen
1 joint publications
Kristin M Abbott
1 joint publications
Jeroen Breckpot
1 joint publications
Koen Devriendt
1 joint publications
Bjorn Cools
1 joint publications
Alfredo Brusco
