Ben C.J. Hamel

Radboud University Nijmegen

Publishes on Genetics and Neurodevelopmental Disorders, Connective tissue disorders research, Genomic variations and chromosomal abnormalities. 276 papers and 20.6k citations.

276Publications

20.6kTotal Citations

Genetics and Neurodevelopmental Disorders Connective tissue disorders research Genomic variations and chromosomal abnormalities RNA modifications and cancer Congenital heart defects research

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Top publicationsby citations

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal et al.|Nature Genetics|2004

Cited by 1.3kOpen Access

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Yanick J. Crow, Bruce E. Hayward, Rekha Parmar et al.|Nature Genetics|2006

Cited by 890

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Frédéric Laumonnier, Frédérique Bonnet‐Brilhault, Marie Gomot et al.|The American Journal of Human Genetics|2004

Cited by 760Open Access

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Jacopo Celli, Pascal H. G. Duijf, Ben C.J. Hamel et al.|Cell|1999

Cited by 715Open Access

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Gillian Rice, Jacquelyn Bond, Aruna Asipu et al.|Nature Genetics|2009

Cited by 684