# Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/joubert-syndrome-a-model-for-untangling-recessive-disorders-with-extreme-genetic/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Ruxandra Bachmann‐Gagescu,Jennifer C. Dempsey,Ian G. Phelps,Brian J. O’Roak,Dana Knutzen,Tessa Rue,Gisele E. Ishak,Christine R. Isabella,Nicholas T. Gorden,Jonathan Adkins,E A Boyle,Nathan Lacy,Diana R. O’Day,Abdulrahman Alswaid,Radha Ramadevi A,Lokesh Lingappa,Charles Marques Lourenço,Loreto Martorell,Ángeles García‐Cazorla,Hamìt Özyürek,Göknur Haliloğlu,Beyhan Tüysüz,Meral Topçu,P. F. Chance,Melissa A. Parisi,Ian A. Glass,Jay Shendure,Dan Doherty |
| Citations | 298 |
| DOI | 10.1136/jmedgenet-2015-103087 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://jmg.bmj.com/content/jmedgenet/52/8/514.full.pdf |
| OpenAlex ID | https://openalex.org/W2268895451 |
| PMID | 26092869 |
| Type | article |
| Year | 2015 |

## Paper authors

- [Beyhan Tüysüz](https://scholariq.org/researchers/beyhan-tuysuz/)

## 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/)
- [Fetal and Pediatric Neurological Disorders](https://scholariq.org/topics/fetal-and-pediatric-neurological-disorders/)

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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.