Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen

per Meredith, Sarah P, Richards, Allan J, Bearcroft, Philip, Pouson, Arabella V, Snead, Martin P
Publicat 2007

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

per Richards, Allan J, McNinch, Annie, Whittaker, Joanne, Treacy, Becky, Oakhill, Kim, Poulson, Arabella, Snead, Martin P
Publicat 2012

Clinical characterisation and molecular analysis of Wagner syndrome

per Meredith, Sarah P, Richards, Allan J, Flanagan, Declan W, Scott, John D, Poulson, Arabella V, Snead, Martin P
Publicat 2007

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

per Nixon, Thomas, Richards, Allan J., Lomas, Adrian, Abbs, Stephen, Vasudevan, Pradeep, McNinch, Annie, Alexander, Philip, Snead, Martin P.
Publicat a Mol Genet Genomic Med (2020)

Stickler Syndrome: Airway Complications in a Case Series of 502 Patients

per Zimmermann, Julia, Stubbs, Daniel J., Richards, Allan J., Alexander, Philip, McNinch, Annie M., Matta, Basil, Snead, Martin P.
Publicat a Anesth Analg (2019)

Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly-X-Y Triple Helix

per Richards, Allan J., Baguley, David M., Yates, John R. W., Lane, Carol, Nicol, Mary, Harper, Peter S., Scott, John D., Snead, Martin P.
Publicat 2000

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

per Richards, Allan J, Fincham, Gregory S, McNinch, Annie, Hill, David, Poulson, Arabella V, Castle, Bruce, Lees, Melissa M, Moore, Anthony T, Scott, John D, Snead, Martin P
Publicat 2013