Jian Guo

This study evaluates genome sequencing in 320 Chinese children with epilepsy, finding pathogenic variants in 38.13% and demonstrating its diagnostic and therapeutic value.

The paper develops a national panel of 31 genomic DNA reference materials for thalassemia genetic testing, validated across multiple laboratories and stable under various conditions.

This study evaluates genome sequencing for diagnosing fetal CNS structural anomalies, finding a 38.9% overall diagnostic yield and higher rates in specific malformations.

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