Niu Li

Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

Ruen Yao, Cheng Zhang, Tingting Yu et al. · Molecular Cytogenetics · 2017 · 111 citations · Full text

Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience

Xuyun Hu, Niu Li, Yufei Xu et al. · Genetics in Medicine · 2017 · 87 citations · Full text

Genetic Testing, China Experience, Medicine +8

Cooperation of the NEIL3 and Fanconi anemia/BRCA pathways in interstrand crosslink repair

Niu Li, Jian Wang, Susan S. Wallace et al. · Nucleic Acids Research · 2020 · 72 citations · Full text

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients

Xin Li, Ruen Yao, Xin Tan et al. · Clinical Genetics · 2019 · 51 citations

Artificial Intelligence, Molecular Diagnostic Techniques, Autoimmune Disease +12

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

Niu Li, Yirou Wang, Yu Yang et al. · Orphanet Journal of Rare Diseases · 2018 · 46 citations · Full text