Hui Li

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort

Hui Wang, Xia Wang, Xuan Zou et al. · Investigative Ophthalmology & Visual Science · 2015 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in human IFT140 cause non-syndromic retinal degeneration

Mingchu Xu, Lizhu Yang, Feng Wang et al. · Human Genetics · 2015 · 83 citations

Medicine, Genetics, Molecular Genetics +10

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

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype–phenotype correlations and unexpected diagnostic revisions

Jacques Zaneveld, Sorath Noorani Siddiqui, Huajin Li et al. · Genetics in Medicine · 2014 · 47 citations · Full text

Medicine, Genetics, Ophthalmology +9

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