Alessandra Chesi

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

The paper identifies EGR2 as a conserved sleep regulator by analyzing sub-threshold genetic signals across sleep-related traits in multiple species.

The paper identifies beat-Ia/CADM2 as a gene involved in hypersomnia by showing its role in sleep regulation across species and demonstrates potential therapeutic targets.

The paper identifies EGFR as a potential therapeutic target in Alzheimer's disease by linking a risk variant to increased EGFR expression in brain cell types through genomic analysis and CRISPRi validation.

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 identifies candidate causal variants and genes at melanoma risk loci using capture-HiC and integrates multi-omics data to prioritize cis-regulatory interactions.

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.

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

This study identifies 12,111 SNPs associated with height from 5.4 million individuals, explaining most common SNP-based heritability and showing ancestry-specific prediction accuracy.

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.

This study identifies 59 genome-wide significant loci for skull bone mineral density, including four novel loci, and links them to osteoporosis and craniofacial developmental defects.

The paper identifies differential regulatory control of APOEε4 on African versus European haplotypes through enhancer activity and promoter interactions analyses.

This paper identifies rs117132860 as a functional variant at 7p21.1 that regulates AHR expression in response to UVB, contributing to melanoma risk and tanning ability.

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 fine-maps 77 GWAS loci in the human liver by integrating epigenetic and gene expression data to understand genetic and epigenetic regulation of gene expression.

The paper identifies MC4R mutations in African American and Hispanic children with severe early onset obesity, finding a 2.6% prevalence and three novel variants.

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.

The paper identifies a causal variant near TMEM106B that alters chromatin architecture and gene expression, linking it to frontotemporal lobar degeneration and neurodegenerative disease risk.