Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
- 2 September 2010
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 87 (3), 418-423
- https://doi.org/10.1016/j.ajhg.2010.08.004
Abstract
No abstract availableKeywords
This publication has 25 references indexed in Scilit:
- Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault SyndromeAmerican Journal of Human Genetics, 2010
- Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 GeneAmerican Journal of Human Genetics, 2010
- Detection of nonneutral substitution rates on mammalian phylogeniesGenome Research, 2009
- 16-P011 Wdr35 is required for mammalian ciliogenesis and Hh responsivenessMechanisms of Development, 2009
- Targeted capture and massively parallel sequencing of 12 human exomesNature, 2009
- DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type IIIAmerican Journal of Human Genetics, 2009
- Tubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signalingHuman Molecular Genetics, 2009
- The diploid genome sequence of an Asian individualNature, 2008
- The ciliary proteome database: an integrated community resource for the genetic and functional dissection of ciliaNature Genetics, 2006
- A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: Cranioectodermal dysplasiaThe Journal of Pediatrics, 1977