A novel de novo splicing mutation of STXBP1 in epileptic encephalopathy associated with hypomyelinating leukodystrophy
Prenatal diagnosis of cleft lip and palate: a study of clinical utility
Comprehensive genetic screening of early-onset dementia patients in an Austrian Cohort-Suggesting new disease-contributing genes
Clinical prognosis and related molecular features of hepatitis B associated adolescent and young adult hepatocellular carcinoma
CVD-associated SNPs with regulatory potential drive pathologic non-coding RNA expression
Clinical manifestations, antimicrobial resistance and genomic feature analysis of the multi-drug resistance Elizabethkingia strains
Computational Network Analysis of Host Genetic Risk Variants of Severe COVID-19
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
Multiple founding paternal lineages inferred from the newly-developed 639-plex Y-SNP panel suggested the complex admixture and migration history of Chinese people
Integrated health-related phenotype by Polygenic Risk Scores stratifies risk population for all-cause mortality: A cohort study based on UK Biobank