Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
Top Cited Papers
- 5 April 2013
- journal article
- research article
- Published by Springer Science and Business Media LLC in Human Genetics
- Vol. 132 (8), 865-884
- https://doi.org/10.1007/s00439-013-1297-0
Abstract
No abstract availableKeywords
This publication has 58 references indexed in Scilit:
- TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition ZoneAmerican Journal of Human Genetics, 2011
- Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathiesKidney International, 2011
- Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19American Journal of Human Genetics, 2011
- Disruption of a Ciliary B9 Protein Complex Causes Meckel SyndromeAmerican Journal of Human Genetics, 2011
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane compositionNature Genetics, 2011
- Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsJCI Insight, 2011
- Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and PathwaysCell, 2011
- CiliopathiesThe New England Journal of Medicine, 2011
- IQCB1Mutations in Patients with Leber Congenital AmaurosisInvestigative Ophthalmology & Visual Science, 2011
- Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyJournal of Medical Genetics, 2010