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
Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy.
Li N et al.
Frontiers in Pediatrics, 2025
41210240 (PubMed )
Supplement: Datasheet1.zip › Supplementary_table.xlsx › Sheet1
SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.
Johnsen C et al.
Molecular Genetics and Metabolism, 2024
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_MOESM4_ESM.xls › NDD-NPDs
[Analysis of SSR4 gene variant in a child with congenital glycosylation type 1y in conjunct with congenital dysplasia of external auditory canal].
Wu R et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
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