Associated Papers
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
41170324 (PubMed )
Supplement: Data_Sheet_5.XLS › NDD-NPDs
Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2024
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Zhao S et al.
Nature Communications, 2023
37978175 (PubMed )
Supplement: 41467_2023_43062_MOESM5_ESM.xlsx › Sheet1
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Sleyp Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
FPGS relapse-specific mutations in relapsed childhood acute lymphoblastic leukemia.
Yu SL et al.
Scientific Reports, 2020
32694622 (PubMed )
Supplement: 41598_2020_69059_MOESM2_ESM.xlsx › PuiBALL_with_purity_4_pp
Select a paper to view details