Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

(2010) Kristien P Hoornaert et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of the COL2A1 Mutation in Patients with Type I Stickler Syndrome Using RNA from Freshly Isolated Peripheral White Blood Cells

(2010) Hiromoto Yaguchi et al.   Genetic Testing and Molecular Biomarkers

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

(2010) Allan J. Richards et al.   HUMAN MUTATION

Novel genomic techniques open new avenues in the analysis of monogenic disorders

(2010) Gregor Kuhlenbäumer et al.   HUMAN MUTATION

Next-Generation Sequencing: From Basic Research to Diagnostics

(2009) K. V. Voelkerding et al.   CLINICAL CHEMISTRY

Missed threads. The impact of pre-mRNA splicing defects on clinical practice

(2009) Diana Baralle et al.   EMBO REPORTS

The influence of pre-mRNA splicing on phenotypic modification in Stickler's syndrome and other type II collagenopathies

(2008) A J Richards et al.   EYE

Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome

(2007) Alan Ang et al.   OPHTHALMOLOGY