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Margot R.F. Reijnders | Researchclopedia

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Margot R.F. Reijnders

Radboud University Nijmegen ORCID

49

Works

4,163

Citations

27

h-index

32

i10-index

Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities

Affiliations

Netherlands Institute for Neuroscience2017–2017

Radboud University Nijmegen2014–2024

Maastricht University Medical Centre2019–2020

Erasmus MC2023–2023

University Medical Center2017–2024

Top Works

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Bradley P. Coe,Kali Witherspoon,et al.

2014744 citations

RNA modifications and cancer

Cancer-related gene regulation

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis,Kaitlin E. Samocha,et al.

2020647 citations

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Stefan H. Lelieveld,Margot R.F. Reijnders,et al.

2016460 citations

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok,Erik Madsen,et al.

2015332 citations

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Margot R.F. Reijnders,Nurhuda Mohamad Ansor,et al.

2017164 citations

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

Tom S. Koemans,Tjitske Kleefstra,et al.

2017163 citations

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Gunnar Houge,Dorien Haesen,et al.

2015123 citations

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim,Deepali N. Shinde,et al.

2016112 citations

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Joanna Kennedy,David Goudie,et al.

2018109 citations