developmental disorder
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.
Deciphering Developmental Disorders Study Provides Molecular Diagnosis to 41 Percent of Patients
Members of the DDD study team diagnosed more than 5,500 children with rare diseases from the UK and Ireland using exome sequencing and microarrays.
Exome Sequencing for Cerebral Palsy Has Sufficient Diagnostic Yield for First-Tier Test
A meta-analysis of prior studies found that the diagnostic yield of exome sequencing for cerebral palsy exceeded 31 percent, similar to other neurodevelopmental disorders.