Publications by authors named "E Overwater"

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Evidence for pathogenicity of c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance.
Setareh Moghadasi, Maria Zanti, Fonnet Bleeker, Marinus Blok, Merel E Braspenning, Eline Overwater

J Med Genet· December 2025

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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, Jessica Bos, Suzanne I M Alsters, Eline Overwater

Circ Genom Precis Med· June 2024

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Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Josephina A N Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Eline Overwater

NPJ Genom Med· March 2024

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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Lisa M van den Bersselaar, Judith M A Verhagen, Jos A Bekkers, Marlies Kempers, Arjan C Houweling, Eline Overwater

Genet Med· February 2024

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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Lisa M van den Bersselaar, Judith M A Verhagen, Jos A Bekkers, Marlies Kempers, Arjan C Houweling, Eline Overwater

Genet Med· October 2022

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