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