Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

Steel Syndrome: Dislocated Hips and Radial Heads, Carpal Coalition, Scoliosis, Short Stature, and Characteristic Facial Features

(2011) John M. Flynn et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Collagen XXVII Organises the Pericellular Matrix in the Growth Plate

(2011) Darren A. Plumb et al.   PLoS One

Whole-Genome Sequencing for Optimized Patient Management

(2011) M. N. Bainbridge et al.   Science Translational Medicine

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation

(2009) Jaime L. Mayo et al.   EXPERIMENTAL CELL RESEARCH

A SNP discovery method to assess variant allele probability from next-generation resequencing data

(2009) Y. Shen et al.   GENOME RESEARCH

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

(2009) John F. Bateman et al.   NATURE REVIEWS GENETICS

Critical Early Roles for col27a1a and col27a1b in Zebrafish Notochord Morphogenesis, Vertebral Mineralization and Post-embryonic Axial Growth

(2009) Helena E. Christiansen et al.   PLoS One