Yue Shen

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.

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.

Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome

Zongfu Cao, Ruikun Cai, Xu Ma, 2021, Genetics in Medicine.

Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome

Zongfu Cao, Xu Ma, Guangyu Zhang, 2020, Frontiers in Genetics.

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.

Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome

M. Qi, Yong Zhao, Hao Wang, 2022, Frontiers in Genetics.