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 ...
Genetic variants in RNU4-2, a gene in a part of the genome not usually in the spotlight, have been identified as the cause of a developmental disorder in a large number of individuals who previously ...
Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...