Conny van Ravenswaaij-Arts

11PUBLICATIONS
13CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Counselling, wellbeing and community servicesCommunication technology and digital media studiesCardiovascular medicine and haematology not elsewhere classifiedDevelopmental genetics (incl. sex determination)
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Publications (11)

|Mar 13, 2025
Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views.

Eleana Rraku, Aafke Engwerda, Tyler D Medina

|Mar 25, 2023
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.

Eleana Rraku, Wilhelmina S Kerstjens-Frederikse, Morris A Swertz

|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

Aafke Engwerda

2 joint publications

Christa M de Geus

2 joint publications

Wilhelmina S Kerstjens-Frederikse

1 joint publications

J E H Bergman