Dr Allan Richards & Dr Martin Snead
Key publications
- Richards AJ, Laidlaw M, Whittaker J, Treacy B, 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 Mut. 27:696-704
- Richards AJ, Meredith S, Poulson A, Bearcroft P, Crossland G, Baguley DM, Scott JD, Snead MP. (2005) A novel mutation of COL2A1 resulting in dominantly inherited retinal detachment. Invest. Ophthalmol. Vis. Sci. 46: 663-668.
- Poulson AV, Hooymans J, Richards AJ, Bearcroft P, Murthy R, Baguley D, Scott JD, Snead MP (2004) Clinical features of Type 2 Stickler syndrome. J. Med. Genet. 41:e107.
- Richards AJ, Baguley DM, Yates JRW, Lane C, Nicol M, Harper PS, Scott JD, Snead MP (2000). 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. Am. J. Hum. Genet 67: 1083-1094.
- Richards AJ, Yates JRW, Williams R, Payne SJ, Pope FM, Scott JD, and 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 a1(XI) collagen. Hum. Mol. Genet 5, 1339-1343.