Rick de Reuver
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)Radboud Institute for Molecular Life Sciences(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Phylogenetic Studies, Chromosomal and Genetic Variations
Most-Cited Works
- → De novo mutations of SETBP1 cause Schinzel-Giedion syndrome(2010)506 cited
- → A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases(2013)338 cited
- → A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability(2014)62 cited
- → Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant(2021)3 cited