Liangwei Mao

This study develops a chip-based sequencing method to detect monogenic diseases and chromosomal abnormalities, identifying 102 mutations in 63 patients with 69 new mutations.

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

The paper reports a familial case of Syndactyly type IV caused by a novel LMBR1 gene duplication, highlighting clinical variability and expanding the known phenotype.