Marlies Kempers

Radboud University Nijmegen — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

41h-index6.2kcitations110works5.92yr avg
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Research Topics

Connective tissue disorders research(25), Aortic Disease and Treatment Approaches(21), Thyroid Disorders and Treatments(19), Aortic aneurysm repair treatments(15), Cardiac Valve Diseases and Treatments(12)

Publications110 total

Approach to the patient: comprehensive multidisciplinary care for adolescents with difference in sex development (DSD)
The Journal of Clinical Endocrinology & Metabolism·2026
Author Reply
BJOG An International Journal of Obstetrics & Gynaecology·2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
European Journal of Human Genetics·2025· 1 citedOpen Access
Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study
BJOG An International Journal of Obstetrics & Gynaecology·2025· 5 citedOpen Access
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
Genetics in Medicine·2024· 4 citedOpen Access
Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience
Andrology·2024· 10 citedOpen Access
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
Circulation Genomic and Precision Medicine·2024· 21 citedOpen Access
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
Genetics in Medicine·2023Open Access
Type A Aortic Dissection in a 24-Year-Old Patient With Kabuki Syndrome
JACC Case Reports·2023· 2 citedOpen Access
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN
European Journal of Medical Genetics·2022· 17 citedOpen Access
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships
American Journal of Medical Genetics Part A·2022· 6 citedOpen Access
Poster No. 132 HTAD PATIENT PATHWAY: Strategy for diagnostic work-up of patients and families with (suspected) Heritable Thoracic Aortic Diseases (HTAD). A statement from the HTAD Working Group of VASCERN
Cardiovascular Research·2022Open Access
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
Genetics in Medicine·2022· 4 citedOpen Access
Phenotype of COL3A1/COL5A2 deletion patients
European Journal of Medical Genetics·2022· 10 citedOpen Access
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
European Journal of Medical Genetics·2022· 18 citedOpen Access
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy
Molecular Genetics & Genomic Medicine·2021· 6 citedOpen Access
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings
International Journal of Molecular Sciences·2021· 12 citedOpen Access
Cardiac abnormalities in girls with Turner syndrome: <scp>ECG</scp> abnormalities, myocardial strain imaging, and karyotype–phenotype associations
American Journal of Medical Genetics Part A·2021· 15 citedOpen Access
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
Science Advances·2021· 47 citedOpen Access
Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family
Pan African Medical Journal·2021· 3 citedOpen Access
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Frequent Co-authors

Bart Loeys(16), Lut Van Laer(10), Jan J. M. de Vijlder(9), Janneke Timmermans(9), A S Paul van Trotsenburg(7), Thomas Vulsma(7), Harry C. Dietz(6), Anthonie L. Duijnhouwer(6), Aline Verstraeten(6), Brenda M. Wiedijk(6), Rolph Pfundt(6), Judith M.A. Verhagen(5), Jolien W. Roos‐Hesselink(5), Ingrid M.B.H. van de Laar(5), Simone Salemink(5), Josephina Meester(5), Geert Vandeweyer(5), Han G. Brunner(4), Tjitske Kleefstra(4), Marja W. Wessels(4)