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Rachel Schot

ORCID: 0000-0001-9578-4095

Publishes on Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities. 84 papers and 2.4k citations.

PubIndex Score15Top 85% · seniorHow it's scored

84Publications

2.4kTotal Citations

First publication: 1993First senior author: 1993

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities Fetal and Pediatric Neurological Disorders RNA modifications and cancer

Top publicationsby citations

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Marije Meuwissen, Grazia M.S. Mancini, Rachel Schot et al.|The Journal of Experimental Medicine|2016

Cited by 289

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

Annemieke J.M.H. Verkerk, Grazia M.S. Mancini, Rachel Schot et al.|The American Journal of Human Genetics|2009

Cited by 174

COL4A2 mutation associated with familial porencephaly and small-vessel disease

Elly Verbeek, Grazia M.S. Mancini, Maarten H. Lequin et al.|European Journal of Human Genetics|2012

Cited by 122

Human mutations in integrator complex subunits link transcriptome integrity to brain development

Renske Oegema, Grazia M.S. Mancini, David Baillat et al.|PLoS Genetics|2017

Cited by 113

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, Heiko Reutter, Dong Li et al.|Science Advances|2020

Cited by 99