Wei Li

The paper identifies a novel PLS1 variant causing autosomal-dominant hearing loss by inducing exon8 skipping and upregulating the PI3K-Akt pathway in zebrafish.

The paper identifies a novel heterozygous missense mutation in ZNF862 as the cause of autosomal-dominant non-syndromic hereditary gingival fibromatosis in a Chinese family.

The paper evaluates how ultrasonography helps identify false-negative aneuploidy cases missed by noninvasive prenatal screening.

This study identifies a novel TTN mutation causing autosomal dominant atrioventricular block in a Chinese family through whole-exome sequencing and co-segregation analysis.

This paper applies targeted sequencing and haplotype analysis to develop a PGD assay for Usher syndrome, resulting in a successful pregnancy with a healthy baby.