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. link to be updated), 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.
Soojin Park, Se Song Jang, Seungbok Lee , Minsoo Kim , Hyungtai Sim , Hyeongseok Jeon , Sung Eun Hong , Jean Lee , Jeongeun Lee , Eun Young Jeon , Jeongha Lee , Cho-Rong Lee , Soo Yeon Kim , Man Jin Kim, Jihoon G. Yoon , Byung Chan Lim , Woo Joong Kim , Ki Joong Kim , Jung Min Ko , Anna Cho , Jin Sook Lee , Murim Choi, Jong-Hee Chae "Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases" Frontiers in Genetics, 2022