# Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/genotype-phenotype-correlation-and-mutation-spectrum-in-a-large-cohort-of/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Xiu‐Feng Huang,Fang Huang,Kun-Chao Wu,Juan Wu,Jie Chen,Chi Pui Pang,Fan Lü,Jia Qu,Zi‐Bing Jin |
| Citations | 241 |
| DOI | 10.1038/gim.2014.138 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://doi.org/10.1038/gim.2014.138 |
| OpenAlex ID | https://openalex.org/W1977823409 |
| PMID | 25356976 |
| Type | article |
| Year | 2014 |

## Paper authors

- [Zi‐Bing Jin](https://scholariq.org/researchers/zi-bing-jin/)

## Paper primary topic

- [Retinal Development and Disorders](https://scholariq.org/topics/retinal-development-and-disorders/)

## Paper topics

- [Retinal Development and Disorders](https://scholariq.org/topics/retinal-development-and-disorders/)
- [Retinopathy of Prematurity Studies](https://scholariq.org/topics/retinopathy-of-prematurity-studies/)
- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)

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