Special Issue "Molecular Genetics of Autism and Intellectual Disability"
Deadline for manuscript submissions: 31 October 2021.
Interests: autism; intellectual disability; human molecular genetics; whole exome sequencing
The recent technological advances in high-throughput whole exome/genome sequencing, single cell sequencing, and array comparative genomic hybridization (CGH) have led to the discovery of novel microdeletion and microduplication syndromes and variants of unknown significance (VUS) in trio and consanguineous family studies.
Furthermore, whole exome sequencing of balanced chromosomal translocations and inversions will identify a large number of novel candidate genes at the breakpoints of carriers affected with these two disorders.
Although more than 654 autosomal dominant genes in intellectual disability or autism have been reported, including 310 candidate genes, the majority of disease genes are still waiting to be discovered.
This Special Issue welcomes insightful reviews and primary research articles that will cover these exciting topics and will provide a valuable update to the current knowledge of the genetic architecture of intellectual disability and autism to unravel the molecular underpinnings of cognitive dysfunction.
Dr. Hyung Kim
Manuscript Submission Information
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- intellectual disability
- whole exome sequencing
- whole genome sequencing
- balanced translocation
- balanced inversion
- variant of unknown significance
- candidate disease gene