W. Tang

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I

D. Liang, Zhuo Li, Lingqian Wu, 2023, Frontiers in genetics.

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Jing Liu, Jing Chen, Jing Liu, 2023, Frontiers in Genetics.

Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center

Ying Peng, Wanqin Xie, R. Duan, 2021, Molecular genetics & genomic medicine.

Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults

I. Krantz, D. Rader, M. Ritchie, 2021, Human Genetics.

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

Jing Liu, Shuting Yang, Jialun Pang, 2023, BMC Medical Genomics.