Functional impact of genetic background on variable expressivity in neurodevelopmental disorders
Santhosh Girirajan
Nature Communications, Published online: 01 May 2026; doi:10.1038/s41467-026-72598-z Genetic variants can lead to variable outcomes in neurodevelopmental disorders. Here, the authors show that the 16p12.1 deletion and genetic background jointly shape chromatin regulation and neurodevelopmental phenotypes, explaining variable disease expressivity.