Researcher profile · Semantic Scholar

E. Overwater

h-index: 10
Works: 24
Citations: 431

Most-cited papers

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections
D. Micha, Dong-Chuan Guo, Y. Hilhorst-Hofstee, F. van Kooten +14 more
2015Human Mutation98 citations Open access
Semantic Scholar
Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders
E. Overwater, L. Marsili, M. Baars, A. Baas +17 more
2018Human Mutation72 citations Open access
Semantic Scholar
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice
A. Houweling, G. Beaman, A. Postma, T. B. Gainous +21 more
2019Journal of Clinical Investigation36 citations Open access
Semantic Scholar
Primrose syndrome: Characterization of the phenotype in 42 patients
D. Melis, D. Carvalho, T. Barbaro-Dieber, A. Espay +26 more
2020Clinical Genetics27 citations Open access
Semantic Scholar
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature
D. Milosavljević, E. Overwater, Saskia Tamminga, K. D. de Boer +4 more
2016American Journal of Medical Genetics. Part A27 citations Open access
Semantic Scholar
The association of mobile medical team involvement on on-scene times and mortality in trauma patients.
S. Aydin, E. Overwater, T. Saltzherr, P. Jin +4 more
2010Journal of Trauma27 citations
Semantic Scholar
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
S. Demirdas, Lisa M. van den Bersselaar, Rosan Lechner, Jessica Bos +22 more
2024Circulation Genomic and Precision Medicine26 citations Open access
Semantic Scholar
Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts
T. Satchwell, Amanda J. Bell, Bethan R. Hawley, S. Pellegrin +12 more
2016Haematologica25 citations Open access
Semantic Scholar
Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle‐Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms
K. Yeung, N. Bogunovic, Niels Keekstra, Adriaan A. M. Beunders +10 more
2017Human Mutation23 citations Open access
Semantic Scholar
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient
L. Marsili, E. Overwater, N. Hanna, G. Baujat +21 more
2020Clinical Genetics21 citations Open access
Semantic Scholar
Expanding the spectrum of CEP55‐associated disease to viable phenotypes
E. S. Barrie, E. Overwater, Mieke M. Haelst, M. Motazacker +10 more
2020American Journal of Medical Genetics. Part A10 citations Open access
Semantic Scholar
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
E. Overwater, Rifka Efrat, D. Barge-Schaapveld, Phillis Lakeman +4 more
2018Molecular Genetics & Genomic Medicine9 citations Open access
Semantic Scholar
The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation
E. Overwater, Y. Smulders, M. van der Burg, M. Lombardi +3 more
2014European Journal of Pediatrics7 citations
Semantic Scholar
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
J. Meester, A. Hebert, M. Bastiaansen, L. Rabaut +42 more
2024npj Genomic Medicine6 citations Open access
Semantic Scholar
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Lisa M. van den Bersselaar, J. Verhagen, J. Bekkers, M. Kempers +15 more
2022Genetics in Medicine6 citations Open access
Semantic Scholar
Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.
D. Terlouw, M. Suerink, Yentl Buitelaar, M. van Leerdam +15 more
2026Gastroenterology4 citations Open access
Semantic Scholar
Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1
E. Overwater, K. Van Rossum, M. Baars, A. Maugeri +1 more
2019Netherlands Heart Journal3 citations Open access
Semantic Scholar
Iris Flocculi and Type B Aortic Dissection.
E. Overwater, A. Houweling
2017Ophthalmology (Rochester, Minn.)2 citations Open access
Semantic Scholar
Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance
S. Moghadasi, Maria Zanti, F. Bleeker, M. Blok +18 more
2025Journal of Medical Genetics1 citations Open access
Semantic Scholar
Spontaneous Coronary Artery Dissection as Presenting Feature of Vascular Ehlers-Danlos Syndrome
J. Bos, E. Overwater, M. Dirksen, S. Şimşek +2 more
2021Cardiogenetics1 citations Open access
Semantic Scholar
Clinical and genetic aspects of bicuspid aortic valve: a proposed model for family screening based on a review of literature
H. Baars, E. Overwater, M. Baars, B. Mulder +3 more
20151 citations Open access
Semantic Scholar
Prevalence and consequences of APC mosaicism in patients with colorectal adenomas
D. Terlouw, M. Suerink, M. V. Leerdam, F. Hes +14 more
2025medRxiv0 citations Open access
Semantic Scholar
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Lisa M. van den Bersselaar, Judith M. A. Verhagen, J. A. Bekkers, M. Kempers +15 more
2023Genetics in Medicine0 citations Open access
Semantic Scholar
P6497Loeys-Dietz syndrome-5: phenotypic spectrum of TGFB3 mutations in an international cohort and first report of a homozygous patient
L. Marsili, E. Overwater, N. Hanna, G. Baujat +10 more
2019European Heart Journal0 citations
Semantic Scholar

E. Dulfer

×5

M. Weiss×3

L. Marsili×3

I. Krapels×3

L. Menke×3

E. Voorhoeve×3

Lisa M. van den Bersselaar×3

H. Brüggenwirth×3