… Because our Illumina eQTL dataset (n = 1,469) is much less heterogeneous than the Affymetrix
dataset (n = 33,109), we expect that some TCs will hardly vary. We therefore performed a …

Using variants from the 1000 Genomes Project pilot European CEU dataset and data from
additional resequencing studies, we densely genotyped 183 non-HLA risk loci previously …

Examining complete gene knockouts within a viable organism can inform on gene function.
We sequenced the exomes of 3222 British adults of Pakistani heritage with high parental …

Genome-wide association studies (GWAS) have identified common variants of modest-effect
size at hundreds of loci for common autoimmune diseases; however, a substantial fraction …

… We resequenced double poly(A)-selected RNA from primary CD4 + T cells (n = 4 individuals,
both activated and untreated conditions) and developed tools for paired-end RNA-seq …

We report the first identified mutation in the gene encoding human cytochrome c (CYCS).
Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal …

… T lymphocytes obtained from one affected individual (individual 4) revealed a lack of DNAJC21
immunoreactivity to an antibody recognizing an N terminal epitope, whereas the parental …

This study investigated the expression of components of the renin-angiotensin system (RAS)
by cancer stem cells (CSCs) we have recently demonstrated in renal clear cell carcinoma (…

Recently, rare loss-of-function genetic variants in the SIAE gene, which encodes sialic acid
acetylesterase, were reported to predispose to multiple autoimmune diseases1. In a pooled …

… In situ hybridization (n = 6) and reverse-transcription quantitative polymerase chain reaction
(n = 5) on the HNmMM samples confirmed expression of all five iPSC markers. Western …