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Showing 1–4 of 4 results
Advanced filters: Author: "Joris A Veltman" Clear advanced filters

  • Whole-exome sequencing has revolutionized the identification of genes with dominant disease-associated variants for rare clinically and genetically heterogeneous disorders, but the identification of genes with recessive disease-associated variants has been less successful. A new study now provides a framework integrating Mendelian variant filtering with statistical assessments of patients' genotypes and phenotypes, thereby catalyzing the discovery of novel mutations associated with recessive disease.

    • Lisenka E L M Vissers
    • Joris A Veltman
    News & Views
    Nature Genetics
    Volume: 47, P: 1222-1224

  • A new study reports an elevated frequency of second-site genomic alterations among children with severe developmental delay who carry a recurrent microdeletion at chromosome 16p12.1. The work highlights the complex relationship between genotype and phenotype and provides a model to explain the clinical variability associated with this and other common microdeletion syndromes.

    • Joris A Veltman
    • Han G Brunner
    News & Views
    Nature Genetics
    Volume: 42, P: 192-193

  • Recent family-based genomic studies are providing a window into the incidence of new mutations in human genomes. This Review discusses our understanding of various types ofde novomutation, including the determinants and consequences of their occurrence rates, and the challenges both for their detection and for linking them to disease pathogenesis.

    • Joris A. Veltman
    • Han G. Brunner
    Reviews
    Nature Reviews Genetics
    Volume: 13, P: 565-575

  • The phenotypic heterogeneity of intellectual disability (ID) disorders has hampered studies of the underlying genetics, but major progress has been achieved by recent applications of next-generation sequencing. This Review discusses our latest understanding of ID genetics, including the identification ofde novoand inherited mutations of various types, strategies for assigning disease causality to the mutations, emerging pathological mechanisms and future research directions.

    • Lisenka E. L. M. Vissers
    • Christian Gilissen
    • Joris A. Veltman
    Reviews
    Nature Reviews Genetics
    Volume: 17, P: 9-18