# Niu Li

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/niu-li/

## Facts

| Field | Value |
| --- | --- |
| Citations | 1,343 |
| Field | Genomics and Rare Diseases |
| h-index | 19 |
| i10-index | 42 |
| Last Known Institution | Shanghai Jiao Tong University |
| OpenAlex ID | https://openalex.org/A5100710965 |
| ORCID iD | 0000-0001-6504-7633 |
| Works | 122 |

## Researcher papers

- [Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data](https://scholariq.org/papers/evaluation-of-three-read-depth-based-cnv-detection-tools-using-whole-exome/)
- [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](https://scholariq.org/papers/proband-only-medical-exome-sequencing-as-a-cost-effective-first-tier-genetic/)
- [Cooperation of the NEIL3 and Fanconi anemia/BRCA pathways in interstrand crosslink repair](https://scholariq.org/papers/cooperation-of-the-neil3-and-fanconi-anemia-brca-pathways-in-interstrand/)
- [Nano-Strategies for Enhancing the Bioavailability of Tea Polyphenols: Preparation, Applications, and Challenges](https://scholariq.org/papers/nano-strategies-for-enhancing-the-bioavailability-of-tea-polyphenols-preparation/)
- [Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients](https://scholariq.org/papers/molecular-and-phenotypic-spectrum-of-noonan-syndrome-in-chinese-patients/)
- [Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay](https://scholariq.org/papers/exome-sequencing-identifies-a-de-novo-mutation-of-ctnnb1-gene-in-a-patient/)
- [Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients](https://scholariq.org/papers/description-of-the-molecular-and-phenotypic-spectrum-of-wiedemann-steiner/)
- [Novel pathogenic ACAN variants in non-syndromic short stature patients](https://scholariq.org/papers/novel-pathogenic-acan-variants-in-non-syndromic-short-stature-patients/)
- [C-to-G editing generates double-strand breaks causing deletion, transversion and translocation](https://scholariq.org/papers/c-to-g-editing-generates-double-strand-breaks-causing-deletion-transversion-and/)
- [Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency](https://scholariq.org/papers/clinical-and-molecular-characterization-of-patients-with-fructose-1-6/)
- [Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis](https://scholariq.org/papers/clinical-and-molecular-characterization-of-five-chinese-patients-with-autosomal/)

## Researcher topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)

## Researcher university

- [Shanghai Jiao Tong University](https://scholariq.org/institutions/shanghai-jiao-tong-university/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.