# A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/a-common-allele-in-rpgrip1l-is-a-modifier-of-retinal-degeneration-in/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Hemant Khanna,Erica E. Davis,Carlos Murga‐Zamalloa,Alejandro Estrada‐Cuzcano,Irma López,Anneke I. den Hollander,Marijke N. Zonneveld,Mohammad Othman,Naushin Waseem,Christina Chakarova,C. Maubaret,Anna Dı́az-Font,Ian M. MacDonald,Donna M. Muzny,David A. Wheeler,Margaret Morgan,Lora Lewis,Clare V. Logan,Perciliz L. Tan,M Beer,Chris F. Inglehearn,Richard A. Lewis,Samuel G. Jacobson,Carsten Bergmann,Philip L. Beales,Tania Attié‐Bitach,Colin A. Johnson,Edgar A. Otto,Shomi S. Bhattacharya,Friedhelm Hildebrandt,Richard A. Gibbs,Robert K. Koenekoop,Anand Swaroop,Nicholas Katsanis |
| Citations | 272 |
| DOI | 10.1038/ng.366 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2064966510 |
| PMID | 19430481 |
| Type | article |
| Year | 2009 |

## Paper authors

- [Carsten Bergmann](https://scholariq.org/researchers/carsten-bergmann/)

## Paper primary topic

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)

## Paper topics

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Hedgehog Signaling Pathway Studies](https://scholariq.org/topics/hedgehog-signaling-pathway-studies/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)

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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.