Di Fang

Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia

Jing Chen, Yongguo Yu, Guorui Hu, 2017, Journal of Human Genetics.

Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes.

W. Qiu, Yu Sun, Xiantao Ye, 2020, European journal of medical genetics.

A novel NFKB2 mutation in a Chinese patient with DAVID syndrome.

W. Qiu, B. Xiao, Lili Wang, 2019, Gene.

Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China

Xuefan Gu, L. Liang, Yongguo Yu, 2022, Human mutation.