Advanced search

Filter By:

Journal Check one or more journals to show results from those journals only.

Choose more journals

Article type Check one or more article types to show results from those article types only.
Subject Check one or more subjects to show results from those subjects only.
Date Choose a date option to show results from those dates only.

Custom date range

Clear all filters
Sort by:
Showing 1–4 of 4 results
Advanced filters: Author: "Joris Veltman" Clear advanced filters

  • Germline de novo mutations can impact individual fitness, but their role in human male infertility is understudied. Trio-based exome sequencing identifies many new candidate genes affecting male fertility, including an essential regulator of male germ cell pre-mRNA splicing.

    • M. S. Oud
    • R. M. Smits
    • J. A. Veltman
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-10

  • Whole-genome sequencing is used to identify genetic alterations in patients with severe intellectual disability for whom all other tests, including array and exome sequencing, returned negative results; de novo single-nucleotide and copy number variations affecting the coding region seem to be a major cause of this disorder.

    • Christian Gilissen
    • Jayne Y. Hehir-Kwa
    • Joris A. Veltman
    Research
    Nature
    Volume: 511, P: 344-347

  • 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