Chang-Shui Chen

[Genetic analysis of a male with Multiple morphological abnormalities of sperm flagella combined with sperm head abnormalities due to compound heterozygous variants of DNAH1 gene and a literature review].

Diagnostic evaluation and clinical utility of C-MoKa for prenatal genetic testing.

Evaluated diagnostic performance and clinical utility of C-MoKa in prenatal diagnosis and its technical concordance with standard of care testings in prenatal diagnosis demonstrate that C-MoKa is a highly effective and reliable method for prenatal diagnosis, exhibiting high concordance with SOC techniques.

[Clinical and genetic analysis of a child with Relapsing encephalopathy with cerebellar ataxia due to variant of ATP1A3 gene].

The c.2267G>A (p.Arg756His) variant of the ATP1A3 gene probably underlay the pathogenesis of RECA in this proband and has enriched the variant spectrum of the ATP1A3 gene and the clinical phenotype spectrum of patients with ATP1A3 gene-associated RECA.