# Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/comprehensive-molecular-diagnosis-of-179-leber-congenital-amaurosis-and-juvenile/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Xia Wang,Hui Wang,Vincent Sun,Han-Fang Tuan,Vafa Keser,Keqing Wang,Huanan Ren,Irma López,Jacques Zaneveld,Sorath Noorani Siddiqui,Stephanie Bowles,Ayesha Khan,Jason S. Salvo,Samuel G. Jacobson,Alessandro Iannaccone,Feng Wang,David G. Birch,John R. Heckenlively,Gerald A. Fishman,Elias I. Traboulsi,Yumei Li,Dianna K. Wheaton,Robert K. Koenekoop,Rui Chen |
| Citations | 162 |
| DOI | 10.1136/jmedgenet-2013-101558 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://jmg.bmj.com/content/jmedgenet/50/10/674.full.pdf |
| OpenAlex ID | https://openalex.org/W2152652629 |
| PMID | 23847139 |
| Type | article |
| Year | 2013 |

## Paper authors

- [Hui Wang](https://scholariq.org/researchers/hui-wang-4/)

## 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/)
- [Ocular Diseases and Behçet’s Syndrome](https://scholariq.org/topics/ocular-diseases-and-behcet-s-syndrome/)
- [Ocular Disorders and Treatments](https://scholariq.org/topics/ocular-disorders-and-treatments/)

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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.