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Aafke Engwerda

6PUBLICATIONS

18CO-AUTHORS

Forensic epidemiologyCardiology (incl. cardiovascular diseases)Epigenetics (incl. genome methylation and epigenomics)Communication technology and digital media studiesCardiovascular medicine and haematology not elsewhere classified

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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

|Nov 23, 2022

The role of TBX18 in congenital heart defects in humans not confirmed.

Aafke Engwerda, Kristin M Abbott, Marrit M Hitzert

|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

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

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