# Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-nmnat1-cause-leber-congenital-amaurosis-and-identify-a-new-disease/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Robert K. Koenekoop,Hui Wang,Jacek Majewski,Xia Wang,Irma López,Huanan Ren,Yiyun Chen,Yumei Li,Gerald A. Fishman,Mohammed Genead,Jeremy Schwartzentruber,Naimesh Solanki,Elias I. Traboulsi,Jingliang Cheng,Clare V. Logan,Martin McKibbin,Bruce E. Hayward,David Parry,Colin A. Johnson,Mohammed Nageeb,James A. Poulter,Moin Mohamed,Hussain Jafri,Yasmin Abdul Rashid,Graham R. Taylor,Vafa Keser,Graeme Mardon,Huidan Xu,Chris F. Inglehearn,Qing Fu,Carmel Toomes,Rui Chen |
| Citations | 207 |
| DOI | 10.1038/ng.2356 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine,Neuroscience |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W1966292963 |
| PMID | 22842230 |
| Type | article |
| Year | 2012 |

## Paper authors

- [Hui Wang](https://scholariq.org/researchers/hui-wang-3/)

## 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/)
- [Retinal Diseases and Treatments](https://scholariq.org/topics/retinal-diseases-and-treatments/)
- [Photoreceptor and optogenetics research](https://scholariq.org/topics/photoreceptor-and-optogenetics-research/)

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