Simon Brooks: all publications

• Publications

  • Brooks S, Ebenezer N, Poopalasundaram S, Lehmann O, Moore A, Hardcastle A. Identification of the gene for Nance-Horan syndrome (NHS). Journal of medical genetics 41 (10) , 768-71 PubMed ID:(15466011 )

  • Brooks S, Ebenezer N, Poopalasundaram S, Maher E, Francis P, Moore A, Hardcastle A. Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS). Ophthalmic genetics 25 (2) , 121-31 PubMed ID:(15370543 )

  • Florijn R, Loves W, Maillette de Buy Wenniger-Prick L, Mannens M, Tijmes N, Brooks S, Hardcastle A, Bergen A. New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. European journal of human genetics : EJHG 14 (9) , 986-90 (Epub 31 May 2006) PubMed ID:(16736028 )

  • Huang K, Wu J, Brooks S, Hardcastle A, Lewis R, Stambolian D. Identification of three novel NHS mutations in families with Nance-Horan syndrome. Molecular vision 13 , 470-4 (Epub 27 Mar 2007) PubMed ID:(17417607)

  • Thiselton D, Alexander C, Morris A, Brooks S, Rosenberg T, Eiberg H, Kjer B, Kjer P, Bhattacharya S, Votruba M. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Human genetics 109 (5) , 498-502 (Epub 03 Oct 2001) PubMed ID:(11735024 )

  • Thiselton D, Alexander C, Taanman J, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier F, Moore A, Bhattacharya S, Votruba M. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Investigative ophthalmology & visual science 43 (6) , 1715-24 PubMed ID:(12036970 )