# Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/whole-exome-sequencing-identifies-mutations-in-gpr179-leading-to-autosomal/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Isabelle Audo,Kinga M. Bujakowska,Elise Orhan,Charlotte M. Poloschek,Sabine Defoort‐Dhellemmes,Isabelle Drumare,Susanne Kohl,Tien Dao Luu,Odile Lecompte,Eberhart Zrenner,Marie‐Elise Lancelot,Aline Antonio,Aurore Germain,Christelle Michiels,Claire Audier,Mélanie Letexier,Jean‐Paul Saraiva,Bart P. Leroy,Francis L. Munier,Saddek Mohand‐Saïd,Birgit Lorenz,Christoph Friedburg,Markus N. Preising,Ulrich Kellner,Agnes B. Renner,Veselina Moskova‐Doumanova,Wolfgang Berger,Bernd Wissinger,Christian Hamel,Daniel F. Schorderet,Elfride De Baere,Dror Sharon,Eyal Banin,Samuel G. Jacobson,Dominique Bonneau,Xavier Zanlonghi,Guylène Le Meur,Ingele Casteels,Robert K. Koenekoop,Vernon Long,Françoise Meire,Katrina Prescott,Thomy de Ravel,Ian Simmons,Hoan Nguyen,Hélène Dollfus,Olivier Poch,Thierry Léveillard,Kim T. Nguyen-Ba-Charvet,José‐Alain Sahel,Shomi S. Bhattacharya,Christina Zeitz |
| Citations | 136 |
| DOI | 10.1016/j.ajhg.2011.12.007 |
| Fields | Biochemistry, Genetics and Molecular Biology,Neuroscience |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929711005428/pdf |
| OpenAlex ID | https://openalex.org/W2045779425 |
| PMID | 22325361 |
| Type | article |
| Year | 2012 |

## Paper authors

- [Vernon Long](https://scholariq.org/researchers/vernon-long/)

## 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/)
- [Photoreceptor and optogenetics research](https://scholariq.org/topics/photoreceptor-and-optogenetics-research/)
- [Receptor Mechanisms and Signaling](https://scholariq.org/topics/receptor-mechanisms-and-signaling/)

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