Yue Shen

Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome

Minna Luo, Zaisheng Lin, Tian Zhu et al. · Genetics in Medicine · 2021 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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

Yue Shen, Hao Wang, Zhimin Liu et al. · BMC Medical Genetics · 2020 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Whole exome sequencing reveals novel <i>CEP104</i> mutations in a Chinese patient with Joubert syndrome

Minna Luo, Li Cao, Zongfu Cao et al. · Molecular Genetics & Genomic Medicine · 2019 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with <i>CPLANE1</i> variants

Xiujuan Zhang, Yue Shen, Ping Li et al. · Molecular Genetics & Genomic Medicine · 2021 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16