We are interested in mechanistically deciphering how genetic variation increase the risk of human diseases. We are particularly interested in understanding how noncoding genetic variants, most uncovered by Genome-wide Association Studies are associated with disease etiology. The underlying assumption is that a majority of these variants impart their effects by altering the quantitative, temporal, and/or spatial properties of long-range cis-regulatory enhancers. Several challenges hinder the mechanistically follow-up of these GWAS, including 1) identification of the causal variant(s) associated with the disease trait, 2) characterization of the spatial and temporal properties of the enhancer(s) harboring the causal variant(s), 3) establishing differential regulatory properties of the allelic variants of the enhancer(s), 4) identification of the causal gene(s) connected with the enhancer(s) of interest, and 5) characterization of the molecular, cellular, and systems-level phenotypes associated with mis-regulation of the target gene(s). Our lab has been developing pipelines to tackle all these challenges, resulting in integrated experimental and computational strategies to uncover the mechanisms linking regulatory variants to human disease.
Dietary macronutrients modulate the proteome of brown adipose tissue in males and their female offspring.
Dietary macronutrients modulate the proteome of brown adipose tissue in males and their female offspring. Cell Rep. 2025 Aug 26; 44(8):116050.
PMID: 40714632
Integration of functional genomics and statistical fine-mapping systematically characterizes adult-onset and childhood-onset asthma genetic associations.
Integration of functional genomics and statistical fine-mapping systematically characterizes adult-onset and childhood-onset asthma genetic associations. Genome Med. 2025 Apr 10; 17(1):35.
PMID: 40205616
Paternal dietary macronutrient balance and energy intake drive metabolic and behavioral differences among offspring.
Paternal dietary macronutrient balance and energy intake drive metabolic and behavioral differences among offspring. Nat Commun. 2024 Apr 06; 15(1):2982.
PMID: 38582785
Dietary macronutrient composition impacts gene regulation in adipose tissue.
Dietary macronutrient composition impacts gene regulation in adipose tissue. Commun Biol. 2024 02 16; 7(1):194.
PMID: 38365885
Mechanosensitive super-enhancers regulate genes linked to atherosclerosis in endothelial cells.
Mechanosensitive super-enhancers regulate genes linked to atherosclerosis in endothelial cells. J Cell Biol. 2024 03 04; 223(3).
PMID: 38231044
Splicing across adipocyte differentiation is highly dynamic and impacted by metabolic phenotype.
Splicing across adipocyte differentiation is highly dynamic and impacted by metabolic phenotype. Res Sq. 2023 Oct 31.
PMID: 37961160
A non-coding variant linked to metabolic obesity with normal weight affects actin remodelling in subcutaneous adipocytes.
A non-coding variant linked to metabolic obesity with normal weight affects actin remodelling in subcutaneous adipocytes. Nat Metab. 2023 05; 5(5):861-879.
PMID: 37253881
Single cell profiling at the maternal-fetal interface reveals a deficiency of PD-L1+?non-immune cells in human spontaneous preterm labor.
Single cell profiling at the maternal-fetal interface reveals a deficiency of PD-L1+?non-immune cells in human spontaneous preterm labor. Sci Rep. 2023 05 16; 13(1):7903.
PMID: 37193763
Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing.
Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing. Neuron. 2023 05 17; 111(10):1637-1650.e5.
PMID: 36917980
Genetics of sexually dimorphic adipose distribution in humans.
Genetics of sexually dimorphic adipose distribution in humans. Nat Genet. 2023 03; 55(3):461-470.
PMID: 36797366