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Mariet W. Elting | Researchclopedia

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Mariet W. Elting

Amsterdam University Medical Centers ORCID

42

Works

2,015

Citations

20

h-index

27

i10-index

Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Connective tissue disorders research

Affiliations

Center for Human Genetics2024–2024

Amsterdam Neuroscience2020–2023

Institute of Human Genetics2024–2024

Sint Maartenskliniek2000–2000

Amsterdam University Medical Centers2019–2025

Top Works

PPIB Mutations Cause Severe Osteogenesis Imperfecta

Fleur S. van Dijk,I. M. Nesbitt,et al.

2009299 citations

Ovarian function and disorders

Epigenetics and DNA Methylation

Prevalence of diabetes mellitus, hypertension and cardiac complaints in a follow-up study of a Dutch PCOS population

Mariet W. Elting,T. Korsen,et al.

2001254 citations

Women with polycystic ovary syndrome gain regular menstrual cycles when ageing

Mariet W. Elting,T. Korsen,et al.

2000227 citations

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy,Haley McConkey,et al.

2021152 citations

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Marialetizia Motta,Luca Pannone,et al.

202095 citations

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Maartje Pennings,Meyke Schouten,et al.

201992 citations

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Chantal Deden,Kornelia Neveling,et al.

202086 citations

Collagen transport and related pathways in Osteogenesis Imperfecta

Lauria Claeys,Silvia Storoni,et al.

202184 citations

Aging women with polycystic ovary syndrome who achieve regular menstrual cycles have a smaller follicle cohort than those who continue to have irregular cycles

Mariet W. Elting,Janet Kwee,et al.

200378 citations