GeneticsScientific ReportsPeer-reviewed
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population
Youngha Lee, Soojin Park, Jin Sook Lee…·Jong‐Hee Chae
The paper identifies pathogenic variants in 57.5% of 553 undiagnosed neurodevelopmental patients, revealing a high proportion of recessive variants and their potential for carrier screening.
6 citations