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Showing 1–3 of 3 results
Advanced filters: Author: Nienke Wieskamp Clear advanced filters

  • Joris Veltman, Han Brunner and colleagues report results of a family based exome sequencing study of ten individuals with unexplained mental retardation. They identified and validated de novo mutations in nine genes, six of which are likely to be pathogenic based on functional criteria, suggesting an important role for de novo point mutations in the etiology of unexplained mental retardation.

    • Lisenka E L M Vissers
    • Joep de Ligt
    • Joris A Veltman
    Research
    Nature Genetics
    Volume: 42, P: 1109-1112

  • Joris Veltman and colleagues apply exome sequencing to identify heterozygous de novo mutations in SETBP1 as the cause of Schinzel-Giedion syndrome, a rare sporadic disorder characterized by severe intellectual disability and multiple congenital malformations.

    • Alexander Hoischen
    • Bregje W M van Bon
    • Joris A Veltman
    Research
    Nature Genetics
    Volume: 42, P: 483-485