Kristen Rohrer

TL;DR: This work has carried out whole-genome genotyping and expression analysis on a series of 193 neuropathologically normal human brain samples using the Affymetrix GeneChip Human Mapping 500K Array Set and Illumina HumanRefseq-8 Expression BeadChip platforms and presents data showing that 58% of the transcriptome is cortically expressed in at least 5% of the authors' samples and that of these cortically expression transcripts, 21% have expression profiles that correlate with their genotype.

TL;DR: The findings suggest that GAB2 modifies LOAD risk in APOE epsilon4 carriers and influences Alzheimer's neuropathology.

TL;DR: This study shows how the relationship between common inherited genetic variants and brain transcript expression can be used in the study of human brain disorders and suggests that studying the transcriptome as a quantitative endo-phenotype has greater power for discovering risk SNPs influencing expression than the use of discrete diagnostic categories.

TL;DR: This work replicated the association with AD in an additional autopsy confirmed series and shows that this H1c haplotype increases both the expression of total MAPT transcript as well as specifically increasing the proportion of 4 microtubule binding repeat containing transcripts.

TL;DR: The top 30 AlzGene loci on May 1, 2007 were investigated in our whole genome association data set consisting of 1411 LOAD cases and neuropathoiogicaiiy verified controls genotyped at 312,316 SNPs using the Affymetrix 500K Mapping Platform as mentioned in this paper.