Publications by authors named "Aafke Engwerda"

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Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Julia Volpi, Xiaonan Zhao, Nichole Owen, Tia Evans, Muriel Holder-Espinasse, Aafke Engwerda

Eur J Hum Genet· August 2025

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Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views.
Eleana Rraku, Aafke Engwerda, Tyler D Medina, Morris A Swertz, Lennart F Johansson

Am J Med Genet A· July 2025

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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.
Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts

Orphanet J Rare Dis· March 2023

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Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.
Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F Simoes de Souza, Morris A Swertz

Orphanet J Rare Dis· March 2023

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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, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts, Aafke Engwerda

Orphanet J Rare Dis· March 2023

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The role of TBX18 in congenital heart defects in humans not confirmed.
Aafke Engwerda, Kristin M Abbott, Marrit M Hitzert, Conny M A van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse

Eur J Hum Genet· February 2023

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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, Paulien A Terhal, Katharina Löhner

Eur J Hum Genet· November 2021

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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Jonathan Lévy, Bérénice Schell, Hala Nasser, Myriam Rachid, Lyse Ruaud, Aafke Engwerda

Clin Genet· October 2021

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The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.
Aafke Engwerda, Barbara Frentz, A Lya den Ouden, Boudien C T Flapper, Morris A Swertz

Eur J Hum Genet· October 2018

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