Concepedia
Statistics
Publications
44
Citations
2.3K
H-Index
27
Active since
1995
Affiliations
Erasmus MC(Current)
Erasmus University Rotterdam
Erasmus MC - Sophia Children’s Hospital
Inserm
University of Washington
Rachel Schot is an author at Erasmus MC specializing in life sciences, genetics, and genetic disorders.
Publications per year
1995–2025
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome
Marije Meuwissen, Rachel Schot, Sofija Buta et al. · The Journal of Experimental Medicine · 2016 · 290 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy
Annemieke J.M.H. Verkerk, Rachel Schot, Belinda Dumee et al. · The American Journal of Human Genetics · 2009 · 174 citations · Full text
Medicine, Neurology, Neuroscience +10
COL4A2 mutation associated with familial porencephaly and small-vessel disease
Elly Verbeek, Marije Meuwissen, Frans W. Verheijen et al. · European Journal of Human Genetics · 2012 · 122 citations · Full text
Life Sciences, Genetics, Neuroscience +10
Human mutations in integrator complex subunits link transcriptome integrity to brain development
Renske Oegema, David Baillat, Rachel Schot et al. · PLoS Genetics · 2017 · 113 citations · Full text
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients
Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text
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