Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

(2015) S. Paige Taylor et al.   Nature Communications

Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report

(2014) Changhoon Jeong et al.   BMC MUSCULOSKELETAL DISORDERS

Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene

(2013) Flavio Faletra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

(2013) Allan J Richards et al.   JOURNAL OF MEDICAL GENETICS

Molecular pathogenesis of fibrochondrogenesis: Is it really simple COL11A1 deficiency?

(2012) Fatema Alzahrani et al.   GENE

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

(2011) Stuart Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS