Ben C.J. Hamel
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Connective tissue disorders research, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Congenital heart defects research
Most-Cited Works
- → Mutations in a new member of the chromodomain gene family cause CHARGE syndrome(2004)1,269 cited
- → Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus(2006)883 cited
- → X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family(2004)760 cited
- → Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome(1999)713 cited
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation(1998)551 cited