Snead MP, Richards AJ, McNinch AM, Alexander P, Martin H, Nixon TRW, Bale P, Shenker N, Brown S, Blackwell AM, Poulson AV (2021). Stickler syndrome – lessons from a national cohort. Eye, Oct 5:1–7. doi: 10.1038/s41433-021-01776-8.
Spickett C, Hysi P, Hammond CJ, Prescott A, Fincham GS, Poulson AV, McNinch AM, Richards AJ, Snead MP (2016). Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment. Hum Mutat. 37(10):1085-96
Fincham, GS, Pasea L, Carroll, C, McNinch AM, Poulson AV, Richards AJ, Scott JD, Snead MP. (2014). Prevention of retinal detachment in Stickler syndrome: the Cambridge Prophylactic Cryotherapy protocol. Ophthalmology, 121(8):1588-97
Richards AJ, Fincham G, McNinch A, Hill D, Castle B, Lees M, Moore A, Poulson AV, Scott JD, Snead MP (2013). Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. J Med Genet., 50(11):765-71
Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ (2011): Stickler Syndrome, Ocular only variants and a key diagnostic role for the Ophthalmologist. Eye, 25:1389-400
Richards AJ, Laidlaw M, Whittaker J, Treacy R, Rai H, Bearcroft P, Baguley DM, Poulson A, Ang A, Scott JD, Snead MP (2006) : High Efficiency of Mutation Detection in Type 1 Stickler Syndrome using a Two Stage Approach: Vitreoretinal Assessment Coupled with Exon Sequencing for Screening COL2A1. Hum. Mutat. 27:696-704.
Richards, AJ., Martin, S., Yates, JRW., Baguley, DM., Pope, FM., Scott, JD., Snead, MP.,(2000): COL2A1 exon 2 mutations: Relevance to the Stickler and Wagner syndromes.. Br. J. Ophthalmol., 84, 364 – 371
Richards, AJ., Pope, FM., Yates, JRW., Scott, JD., Snead, MP. (1996): A family with Stickler syndrome Type 2 Has a Mutation in the COL11A1 Gene Resulting in the Substitution of Glycine 97 by Valine in α1(XI) Collagen. Hum. Mol. Genet., 5, 1339 - 1343.