Bregje W.M. van Bon
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Congenital heart defects research, Ubiquitin and proteasome pathways
Most-Cited Works
- → Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability(2012)1,570 cited
- → Genome sequencing identifies major causes of severe intellectual disability(2014)1,130 cited
- → A de novo paradigm for mental retardation(2010)851 cited
- → Refining analyses of copy number variation identifies specific genes associated with developmental delay(2014)744 cited
- → De novo mutations of SETBP1 cause Schinzel-Giedion syndrome(2010)506 cited
- → Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome(2009)370 cited
- → Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling