Biological constraints on GWAS SNPs at suggestive significance thresholds reveal additional BMI loci

RK Hammond, MC Pahl, C Su, DL Cousminer… - elife, 2021 - elifesciences.org
To uncover novel significant association signals (p< 5× 10− 8), genome-wide association
studies (GWAS) requires increasingly larger sample sizes to overcome statistical correction …

[HTML][HTML] 3D promoter architecture re-organization during iPSC-derived neuronal cell differentiation implicates target genes for neurodevelopmental disorders

C Su, M Argenziano, S Lu, JA Pippin, MC Pahl… - Progress in …, 2021 - Elsevier
Neurodevelopmental disorders are thought to arise from interrupted development of the
brain at an early age. Genome-wide association studies (GWAS) have identified hundreds of …

Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene map** of relevant complex traits

MC Pahl, CA Doege, KM Hodge, SH Littleton… - Nature …, 2021 - nature.com
The hypothalamus regulates metabolic homeostasis by influencing behavior and endocrine
systems. Given its role governing key traits, such as body weight and reproductive timing …

Integrative transcriptomic analysis of SLE reveals IFN-driven cross-talk between immune cells

B Panwar, BJ Schmiedel, S Liang, B White… - bioRxiv, 2020 - biorxiv.org
The systemic lupus erythematosus (SLE) is an incurable autoimmune disease
disproportionately affecting women and may lead to damage in multiple different organs …