# Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/candidate-exome-capture-identifies-mutation-of-sdccag8-as-the-cause-of-a-retinal/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Edgar A. Otto,Toby W. Hurd,Rannar Airik,Moumita Chaki,Weibin Zhou,Corinne Stoetzel,Suresh B. Patil,Shawn Levy,Amiya K. Ghosh,Carlos Murga‐Zamalloa,Jeroen van Reeuwijk,Stef J.F. Letteboer,Liyun Sang,Rachel H. Giles,Qin Liu,Karlien L. M. Coene,Alejandro Estrada‐Cuzcano,Rob W.J. Collin,Heather M. McLaughlin,Susanne Held,J. M. Kasanuki,Gokul Ramaswami,Jinny Conte,Irma López,Joseph Washburn,James W. MacDonald,Jinghua Hu,Yukiko Yamashita,Eamonn R. Maher,Lisa M. Guay‐Woodford,Hartmut P.H. Neumann,Nicholas Obermüller,Robert K. Koenekoop,Carsten Bergmann,Xiaoshu Bei,Richard A. Lewis,Nicholas Katsanis,Vanda S. Lopes,David S. Williams,Robert H. Lyons,Chi V. Dang,Daniela A. Brito,Mónica Bettencourt‐Dias,Xinmin Zhang,James D. Cavalcoli,Gudrun Nürnberg,Peter Nürnberg,Eric A. Pierce,Peter K. Jackson,Corinne Antignac,Sophie Saunier,Ronald Roepman,Hélène Dollfus,Hemant Khanna,Friedhelm Hildebrandt |
| Citations | 324 |
| DOI | 10.1038/ng.662 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | green |
| OA URL | http://hdl.handle.net/20.500.11820/d60e2df3-2453-49ed-a69c-1489dba4c998 |
| OpenAlex ID | https://openalex.org/W2142808441 |
| PMID | 20835237 |
| Type | article |
| Year | 2010 |

## Paper authors

- [Corinne Antignac](https://scholariq.org/researchers/corinne-antignac/)
- [Lisa M. Guay‐Woodford](https://scholariq.org/researchers/lisa-m-guay-woodford/)
- [Carsten Bergmann](https://scholariq.org/researchers/carsten-bergmann/)
- [Eamonn R. Maher](https://scholariq.org/researchers/eamonn-r-maher/)

## 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/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [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.