Korean Neurodevelopmental Disorder (KND) patients with recessive variants

To understand genetic features that determine the inheritance pattern of rare diseases, we conducted trio-based whole exome sequencing analysis to characterize genetic variants in Korean Neurodevelopmental Disorder (KND) patients. In our paper (Park et al., 2022 Front Genet), we showed that genes responsible for neurodevelopmental disorders harbor different molecular mechanisms and expression patterns according to their mode of inheritance. The set of variants from 249 KND patients with recessive causal variants is available for download.

​

Citation: