James A. Pippin

This study maps POAG risk variants to candidate effector genes in ocular cell types, identifying ARHGEF12 as a potential target.

The paper identifies MEIS1 as a gene involved in sleep abnormalities and cerebellar development using cross-species variant-to-function analyses in zebrafish.

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

The paper integrates GWAS data with a CRISPRi screen in osteoblasts to identify genes affecting bone mineral density and reveals pleiotropy across non-bone tissues.

The paper uses in vitro hematopoiesis systems to analyze gene expression and chromatin organization during HPC formation, identifying genetic impacts on blood traits and disease.

This study identifies 91 risk loci for gallstone disease through a trans-ancestry GWAS, including 37 novel loci, and links them to metabolic and liver-related traits.

The paper maps GWAS variants associated with late-onset Alzheimer's disease to functional effects in microglial cells, identifying RTFDC1 as a novel effector gene at the CASS4 locus.

This paper identifies shared and unique chromatin accessibility and 3D interactions of SUD loci, implicating non-neural cell types like pancreatic β-cells and showing a causal link between T2D and AUD.

The paper identifies rs7132908 as a causal variant in the chr12q13 obesity locus, showing it affects FAIM2 expression and neurodevelopment through cis-regulatory mechanisms.

This study identifies rs3752495 as the causal variant at the insomnia WDR90 GWAS locus that influences PIG-Q expression through a regulatory mechanism.

The paper identifies GPI-anchor biosynthesis as a conserved regulator of sleep through variant-to-gene mapping and cross-species genetic screening in humans and model organisms.

The paper identifies conserved genes at insomnia GWAS loci using zebrafish CRISPR screens and chromatin interaction data, finding that MEIS1 and SKIV2L mutations produce insomnia-like behaviors.

The paper uses 3D chromatin maps to identify cell-type-specific regulatory architecture of type 2 diabetes risk by analyzing pancreatic cell types.

The paper maps cis-regulatory elements in human ESC-derived hypothalamic neurons and links them to GWAS loci for complex traits, identifying candidate genes and regulatory elements involved in hypothalamic development.

The paper identifies 40 novel genetic loci associated with longitudinal pediatric bone accrual and identifies candidate effector genes through variant-to-gene mapping and functional validation.

This paper identifies functional variants and regulatory elements at SLE GWAS loci using 3D chromatin maps of TFH cells, revealing novel genes and regulatory interactions.

The paper uses SPATIaL-seq and ATAC-seq to identify novel effector genes at GWAS loci for bone mineral density by mapping variant-promoter interactions in osteoblasts.