Cuixia Chen

发表

VarfromPDB: An Automated and Integrated Tool to Mine Disease-Gene-Variant Relations from the Public Databases and Literature

Lei Wang, Zongfu Cao, Yilu Chen, 2017 .

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants

Zongfu Cao, Ruikun Cai, Yufei Yu, 2021, Molecular genetics & genomic medicine.

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome

Zongfu Cao, Ruikun Cai, Yufei Yu, 2019, Molecular genetics & genomic medicine.

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients

Zongfu Cao, Cuixia Chen, Xu Ma, 2020, Journal of clinical laboratory analysis.

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

Yun Peng, Zongfu Cao, Ruikun Cai, 2020, BMC medical genetics.

Prevention and Control of Pathogens Based on Big-Data Mining and Visualization Analysis

Hao Lin, Zongfu Cao, Ruikun Cai, 2021, Frontiers in Molecular Biosciences.

Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia

Zongfu Cao, Cuixia Chen, Xu Ma, 2020, Scientific Reports.

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome

Zongfu Cao, Cuixia Chen, Xu Ma, 2023, BMC Medical Genomics.

Proteomics & Bioinformatics

Lei Wang, Zongfu Cao, Yilu Chen, 2022 .