Zhisheng Yuan

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid et al. · The American Journal of Human Genetics · 2017 · 80 citations · Full text

Medicine, Genetics, Molecular Genetics +12

<i>CEP78</i> is mutated in a distinct type of Usher syndrome

Qing Fu, Mingchu Xu, Chen Xue et al. · Journal of Medical Genetics · 2016 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain significance

Zachry T. Soens, Justin Branch, Shijing Wu et al. · Human Mutation · 2017 · 46 citations

Life Sciences, Genetics, Molecular Genetics +17

The phenotypic variability of HK1-associated retinal dystrophy

Zhisheng Yuan, Baiyu Li, Mingchu Xu et al. · Scientific Reports · 2017 · 40 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A novel small deletion in the NHS gene associated with Nance-Horan syndrome

Huajin Li, Lizhu Yang, Zixi Sun et al. · Scientific Reports · 2018 · 15 citations · Full text

Medicine, Genetics, Molecular Genetics +17