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_1.XLS › NDD-NPDs
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Wu R et al.
Orphanet Journal of Rare Diseases, 2024
38764027 (PubMed )
Supplement: 13023_2024_3214_MOESM1_ESM.xls › Sheet1
Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
Bhat G et al.
European Journal of Medical Genetics, 2016
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
Shimojima K et al.
Journal of Human Genetics, 2011
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