Hans van Bokhoven

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 · 876 citations

Ags1 Locus, Mendelian Disorder, Genetic Disorder +11

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 · 709 citations · Full text

Eec Syndrome, Mendelian Disorder, Genetic Disorder +8

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher et al. · The American Journal of Human Genetics · 2002 · 684 citations · Full text

Molecular Neuroscience, Developmental Biology, Mendelian Disorder +8

Isolation and identification of volatile kairomone that affects acarine predatorprey interactions Involvement of host plant in its production

Marcel Dicke, Teris A. van Beek, Maarten A. Posthumus et al. · Journal of Chemical Ecology · 1990 · 624 citations

Biology, Plant-insect Interaction, Entomology +5

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 613 citations · Full text

Chromatin, Psychiatry, Genetic Disorder +11