Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
The structural variations (SVs) in the non-coding region of 5q14.3 near a gene called MEF2C — a transcription factor, has been linked to neurodevelopmental disorders (NDDs). The paper, published in the American Journal of Human Genetics, is the first to describe the long-range effects of coding and non-coding MEF2C variants in human iPSCs derived neuronal [...]