TFII-I, a transcription factor deleted in Williams Syndrome, localizes to areas in mouse brain affected in humans
Danoff SK, Taylor H, Blackshaw S, Desiderio SV. Neuroscience 2004123:931-8.
Expression of nitric oxide synthase isoforms in hippocampal neurons: species and developmental variability and implications for synaptic plasticity
Blackshaw S, Sawa A, Eliasson M, Krug D, Watkins C, Gupta A, Ferante RJ, Snyder SH. Neuroscience 2003 119:979-90.
Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE)
Sharon D*, Blackshaw S*, Cepko CL, Dryja TP. Proc Natl Acad Sci USA 2002 99:315-20 (* indicates equal contribution by both authors).
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
Browne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. Hum Mol Genet 2002 11:559-568.
Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes
Blackshaw S, Fraioli RE, Furukawa T, Cepko CL. Cell 2001 107:579-89.
Mutations in a new photoreceptor-pineal gene on 17p cause Leber’s congenital amaurosis
Sohocki M M, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, BhattacharyaSS, Khaliq S, Qasim Mehdi S, Birch DG, Harrison WR, Elder FF, Heckenlively JR, Daiger SP. Nat Genet 2000 24:79