Eelco Dulfer

Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients

Serwet Demirdas, Eelco Dulfer, Leema Robert et al. · Clinical Genetics · 2016 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Eline Overwater, Luisa Marsili, Marieke J.H. Baars et al. · Human Mutation · 2018 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

Eveline Boudin, Tjeerd R. de Jong, Timothy C. R. Prickett et al. · The American Journal of Human Genetics · 2018 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Serwet Demirdas, Lisa M. van den Bersselaar, Rosan Lechner et al. · Circulation Genomic and Precision Medicine · 2024 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Phenotypic spectrum of <i>TGFB3</i> disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

Luisa Marsili, Eline Overwater, Nadine Hanna et al. · Clinical Genetics · 2020 · 24 citations · Full text

Medicine, Genetics, Molecular Genetics +17