Xiaomin Liu

HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.

J. Lyu, Yongguo Yu, Wei Yang, 2021, Journal of genetics and genomics = Yi chuan xue bao.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

Fei Li, X. Ji, Xuefan Gu, 2018, BMC Medical Genomics.

De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β–catenin signaling

X. Mo, Xuefan Gu, N. Shen, 2020, Human mutation.

Genome-wide association study of SNP- and gene-based approaches to identify susceptibility candidates for lupus nephritis in the Han Chinese population

Y. Sheng, Xiangmei Chen, Lu Liu, 2022, Frontiers in Immunology.

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

Xuefan Gu, Ming Zhu, Yongguo Yu, 2019, Journal of clinical research in pediatric endocrinology.

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome.

Xuefan Gu, Yongguo Yu, Yanjie Fan, 2019, Journal of clinical research in pediatric endocrinology.

Comprehensive assessment showed no associations of variants at the SLC10A1 locus with susceptibility to persistent HBV infection among Southern Chinese

Hongbing Shen, Zhibin Hu, F. He, 2017, Scientific Reports.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

X. Ji, Xuefan Gu, L. Liang, 2018, BMC medical genomics.