Margot R.F. Reijnders

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

Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld et al. · Nature Genetics · 2014 · 734 citations · Full text

Developmental Biology, Developmental Genetics, Genetics +8

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

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 633 citations · Full text

Mendelian Disorder, Medicine, Genetic Epidemiology +9

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

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Margot R.F. Reijnders, Nurhuda Mohamad Ansor, Maria Kousi et al. · The American Journal of Human Genetics · 2017 · 163 citations · Full text

Developmental Biology, Rac1 Missense Mutations, Genetic Disorder +5

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

Tom S. Koemans, Tjitske Kleefstra, Melissa C. Chubak et al. · PLoS Genetics · 2017 · 159 citations · Full text

Histone Modifications, Epigenetic Change, Genetics +18