Hyung Chul Kim

2 months ago | digitalcommons.library.tmc.edu | Yuyang Chen |Ruebena Dawes |Hyung Chul Kim |Alicia Ljungdahl

KeywordsAdolescent, Child, Child, Preschool, Female, Humans, Infant, Male, Young Adult, Alleles, Brain, Heterozygote, Mutation, Neurodevelopmental Disorders, RNA Splice Sites, RNA, Small Nuclear, Spliceosomes, Syndrome, Rare Diseases, Gene Expression Regulation, DevelopmentalAbstractAround 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1.

Jul 11, 2024 | nature.com | Yuyang Chen |Ruebena Dawes |Hyung Chul Kim |Sarah Stenton |Susan Walker |Jenny Lord | +42 more

AbstractAround 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2.

Apr 8, 2024 | medrxiv.org | Yuyang Chen |Ruebena Dawes |Hyung Chul Kim |Sarah Stenton

NW receives research funding from Novo Nordisk and has consulted for ArgoBio studio. SJS receives research funding from BioMarin Pharmaceutical. AODL is on the scientific advisory board for Congenica, was a paid consultant for Tome Biosciences and Ono Pharma USA Inc., and received reagents from PacBio to support rare disease research. HLR has received support from Illumina and Microsoft to support rare disease gene discovery and diagnosis.