Shuai Han

Identification of a novel splice mutation in CTNNB1 gene in a Chinese family with both severe intellectual disability and serious visual defects

M. Qi, Yi Zhao, Hui Wang, 2019, Neurological Sciences.

Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway

M. Qi, Junhui Sun, Liwei Yang, 2020, BioMed research international.

Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing

Juan Sun, Xiaodong He, Liwei Yang, 2022, Molecular genetics & genomic medicine.

Characterization of a novel gross deletion and insertion mutation in EDA gene causing hypohidrotic ectodermal dysplasia

M. Qi, Jiong Cai, Alexandru George Dumitru, 2020, The Journal of dermatology.

A Novel Homozygous Missense Mutation of PIEZO1 Leading to Lymphatic Malformation-6 Identified in a Family With Three Adverse Pregnancy Outcomes due to Nonimmune Fetal Hydrops

Minyue Dong, Yiqi Yu, Xin Guo, 2022, Frontiers in Genetics.

Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing

R. Griggs, M. Qi, Songying Zhang, 2020, BioMed research international.

Hyperactivation of platelet‐derived growth factor signalling contributes to arrhythmogenesis in Brugada syndrome

Luyang Yu, Fan Yang, M. Qi, 2022, Clinical and translational medicine.