| The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports A Engwerda, B Frentz, AL den Ouden, BCT Flapper, MA Swertz, ... European Journal of Human Genetics 26 (10), 1478-1489, 2018 | 36 | 2018 |
| TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility A Engwerda, EKSM Leenders, B Frentz, PA Terhal, K Löhner, ... European Journal of Human Genetics 29 (11), 1669-1676, 2021 | 23 | 2021 |
| The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1 A Engwerda, WS Kerstjens-Frederikse, N Corsten-Janssen, T Dijkhuizen, ... Orphanet journal of rare diseases 18 (1), 59, 2023 | 8 | 2023 |
| EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder J Lévy, B Schell, H Nasser, M Rachid, L Ruaud, N Couque, P Callier, ... Clinical Genetics 100 (4), 396-404, 2021 | 7 | 2021 |
| Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability A Engwerda, B Frentz, E Rraku, NFS de Souza, MA Swertz, M Plantinga, ... Orphanet journal of rare diseases 18 (1), 60, 2023 | 4 | 2023 |
| The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review E Rraku, WS Kerstjens-Frederikse, MA Swertz, T Dijkhuizen, ... Orphanet journal of rare diseases 18 (1), 68, 2023 | 3 | 2023 |
| The role of TBX18 in congenital heart defects in humans not confirmed A Engwerda, KM Abbott, MM Hitzert, CMA van Ravenswaaij-Arts, ... European Journal of Human Genetics 31 (2), 138-141, 2023 | 2 | 2023 |
| Developing Del2Phen: a novel phenotype description tool for chromosome deletions E Rraku, TD Medina, CMA van Ravenswaaij-Arts, MK Slofstra, MA Swertz, ... medRxiv, 2024.10. 21.24315854, 2024 | | 2024 |
| Parents as partners: data consistency and data availability of parent-reported phenotypes A Engwerda, B Frentz, E Rraku, NS de Souza, M Swertz, M Plantinga, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 535-535, 2024 | | 2024 |
| Del2Phen: Developing a novel patient-centric genotype-to-phenotype prediction tool for chromosome deletions-the Chromosome 6 Project E Rraku, T Medina, M Slofstra, A Engwerda, M Swertz, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 527-527, 2024 | | 2024 |
| The Chromosome 6 Project: a proof of concept for using parent-reported phenotypes to unravel the phenotypic spectrum of chromosome aberrations A Engwerda | | 2024 |
| TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility A Engwerda, EKSM Leenders, B Frentz, PA Terhal, K Lohner, ... European Journal of Human Genetics 30 (SUPPL 1), 366-366, 2022 | | 2022 |
| Unravelling terminal 6p deletions with the help of social media E Rraku, A Engwerda, J Geurink, L Monsma, P Bouman, MA Swertz, ... European Journal of Human Genetics 30 (SUPPL 1), 367-367, 2022 | | 2022 |
| Phenotype-genotype analysis in a large cohort of 250 individuals with a chromosome 6q deletion A Engwerda, SE Meijer, P Bouman, NFS de Souza, B Frentz, BCT Flapper, ... European Journal of Human Genetics 28 (SUPPL 1), 456-457, 2020 | | 2020 |
| Phenotype genotype analysis in a large cohort of 85 individuals with a terminal 6q deletion A Engwerda, NS De Souza, P Bouman, B Flapper, N Corsten-Janssen, ... Molecular Cytogenetics 12, 2019 | | 2019 |
| Is there a relation between TBX18 and congenital heart defects? A Engwerda | | 2017 |
