developmental disorder
Developmental Disorder Study Reveals Recessive Genetic Contributors in Diverse Populations
Researchers explored the genetics of autosomal recessive developmental disorders in two large, diverse cohorts, linking some 84 percent of cases to known disease genes.
Quest, Broad Clinical Labs to Assess Genome Sequencing as First-Line Test for Developmental Delay
The partners aim to demonstrate that WGS can provide insights at least as clinically accurate as the conventional tests clinicians use to diagnose developmental delay.
Teams Track Embryo-Wide Development With Single-Cell Transcriptomic Strategies
Researchers used single-cell RNA sequencing and other methods for the large-scale phenotyping of wild type and genetically altered mouse and zebrafish embryos.
Proteomic Study Points to Stretched-Out Synapse Development in Humans
A comparative study suggests synapse formation takes far longer in humans than in mice or macaques, offering clues to potential strengths and vulnerabilities in the human brain.
Neurodevelopmental Disorder Variants Identified by Short-Read, Long-Read Genome Sequencing
Genome sequencing on 489 individuals with neurodevelopmental disorders and their family members uncovered causal variants in more than a third of cases.