Personal information

Netherlands

Activities

Employment (1)

University Medical Center Groningen: Groningen, Groningen, NL

(Genetics)
Employment
Source: Self-asserted source
Aafke Engwerda

Works (8)

Developing Del2Phen: a novel phenotype description tool for chromosome deletions

2024-10-22 | Preprint
Contributors: Eleana Rraku; Tyler D. Medina; Conny M.A. van Ravenswaaij-Arts; Mariska K. Slofstra; Morris A. Swertz; Trijnie Dijkhuizen; Lennart F. Johansson; Aafke Engwerda
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Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

Orphanet Journal of Rare Diseases
2023-03-19 | Journal article
Contributors: Aafke Engwerda; Barbara Frentz; Eleana Rraku; Nadia F. Simoes de Souza; Morris A. Swertz; Mirjam Plantinga; Wilhelmina S. Kerstjens-Frederikse; Adelita V. Ranchor; Conny M. A. van Ravenswaaij-Arts
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The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

Orphanet Journal of Rare Diseases
2023-03-19 | Journal article
Contributors: Aafke Engwerda; Wilhelmina S. Kerstjens-Frederikse; Nicole Corsten-Janssen; Trijnie Dijkhuizen; Conny M. A. van Ravenswaaij-Arts
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The role of TBX18 in congenital heart defects in humans not confirmed

European Journal of Human Genetics
2023-02 | Journal article
Contributors: Aafke Engwerda; Kristin M. Abbott; Marrit M. Hitzert; Conny M. A. van Ravenswaaij-Arts; Wilhelmina S. Kerstjens-Frederikse
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The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role forDLL1

2022-11-14 | Preprint
Contributors: Aafke Engwerda; Wilhelmina S. Kerstjens-Frederikse; Nicole Corsten-Janssen; Trijnie Dijkhuizen; Conny M. A. van Ravenswaaij-Arts
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Crossref

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

2022-11-14 | Preprint
Contributors: Eleana Rraku; Wilhelmina S. Kerstjens-Frederikse; Morris A. Swertz; Trijnie Dijkhuizen; Conny M. A. van Ravenswaaij-Arts; Aafke Engwerda
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Crossref

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

2022-11-08 | Preprint
Contributors: Aafke Engwerda; Barbara Frentz; Eleana Rraku; Nadia F. Simoes de Souza; Morris A. Swertz; Mirjam Plantinga; Wilhelmina S. Kerstjens-Frederikse; Adelita V. Ranchor; Conny M. A. van Ravenswaaij-Arts
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Crossref

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

European Journal of Human Genetics
2021-11-30 | Journal article
Contributors: Aafke Engwerda; Erika K. S. M. Leenders; Barbara Frentz; Paulien A. Terhal; Katharina Löhner; Bert B. A. de Vries; Trijnie Dijkhuizen; Yvonne J. Vos; Tuula Rinne; Maarten P. van den Berg et al.
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