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
Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.
Li J et al.
Molecular Genetics & Genomic Medicine, 2024
Primrose syndrome: Characterization of the phenotype in 42 patients.
Melis D et al.
Clinical Genetics, 2020
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Alby C et al.
American Journal of Medical Genetics. Part A, 2018
Select a paper to view details