Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of ...

A new study led by scientists from the Hebrew University of Jerusalem and INSERM identified genes essential for turning embryonic stem cells into brain cells, including a gene linked to a previously ...

Scientists have conducted the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. They found that most undiagnosed cases that are due to ...