Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
2006 · Nature Genetics · 883 citations
https://doi.org/10.1038/ng1845
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Ben C.J. Hamel
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Ben C.J. Hamel is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Connective tissue disorders research & Genomic variations and chromosomal abnormalities. The author has an h-index of 73, co-authored 236 publications.
ORCID: 0000-0002-7318-4344Papers by this author
worksMutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
2009 · Nature Genetics · 680 citations
https://doi.org/10.1038/ng.373
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
2013 · Journal of Medical Genetics · 162 citations
https://doi.org/10.1136/jmedgenet-2013-101658
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
2008 · European Journal of Human Genetics · 148 citations
https://doi.org/10.1038/ejhg.2008.208
Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation
2004 · The American Journal of Human Genetics · 142 citations
https://doi.org/10.1086/422507
Jeune syndrome: description of 13 cases and a proposal for follow-up protocol
2009 · European Journal of Pediatrics · 130 citations
https://doi.org/10.1007/s00431-009-0991-3
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