Giovanni Coppola

This paper evaluates combining expression-based surrogate variables and genotype-based principal components in differential expression analysis, finding the combined approach improves replicability and biological recall in ALS datasets.

This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.

This study identifies six genetic loci associated with progressive supranuclear palsy, including a novel locus, and links them to oligodendrocytic dysfunction and C4A expression.

This study uses whole-genome sequencing to identify new genetic loci and structural variants associated with progressive supranuclear palsy, including novel signals in APOE and H1/H2 haplotype region variants.

This study examines how aging affects the transcriptome and chromatin accessibility in male and female mouse hippocampus, identifying sex-specific changes in gene expression, alternative splicing, and chromatin features.

The paper identifies a NOTCH3 variant, p.Arg1231Cys, enriched in South Asians and strongly associated with stroke risk, highlighting the importance of genetic diversity in stroke research.

This study shows PTBP1 is expressed in adult sensory and motor neurons, with increased axonal levels after injury, affecting axon outgrowth and sensation.

The paper identifies rare coding variants in CHRNB2 associated with reduced smoking likelihood and links them to downstream smoking-related phenotypes.

The paper identifies functional regulatory variants in GWAS loci for dementia, revealing cell-type specific transcriptional networks involved in disease risk.

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

The paper examines genetic variation and natural selection at SARS-CoV-2 host genes in diverse populations and links selected variants to clinical phenotypes in COVID-19.

The paper identifies a rare variant that lowers ACE2 expression and reduces COVID-19 risk, and develops a genetic risk score predicting severe disease.

The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.

The paper maps Tau interactomes in neurons using APEX and AP-MS to reveal activity-dependent interactions and FTD mutation effects on mitochondrial associations in neurodegenerative diseases.

This study evaluates polygenic risk scores (PRS) for cancer prediction in a racially diverse biobank, finding moderate improvements in discriminatory accuracy for European ancestry but limited gains for African ancestry.

The paper develops DNA methylation-based age estimators for vervet monkeys and shows evolutionary conservation of epigenetic aging in primates.

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.

The paper shows that prenyl-Cdc42 mRNA localizes to PNS axons and promotes axon growth through localized translation and prenylation.

This study identifies gene sets associated with Tourette Syndrome using genome-wide data, highlighting synaptic and immune-related pathways.

This study examines how neuroinflammation affects astrocyte gene expression in the mouse medial prefrontal cortex and links these changes to anhedonia, finding shared pathways with human major depressive disorder and Alzheimer's disease.

This study identifies R47H-TREM2 mutation-induced proinflammatory microglial states in human AD and tauopathy mice, showing Akt pathway involvement and potential therapeutic targets.

Multi-ethnic type 2 diabetes (T2D) meta-analysis of 228,499 cases and 1,178,783 controls finds 318 previously unreported loci, 804 expression-colocalized genes, and 13 SNP-by-T2D vascular-outcome interactions.

This paper establishes a hiPSC-derived neuromuscular co-culture system under optogenetic control to study NMJ formation and disease mechanisms.

This study examines genetic risk for bipolar disorder in extended families, finding that both common and rare variants contribute to susceptibility, with no significant segregation of large-effect variants.

This study shows DYNLRB1 is essential for dynein-mediated transport and sensory neuron survival, with loss-of-function leading to embryonic lethality and neuronal deficits.

ForestQC improves variant quality control by combining filtering and machine learning, outperforming existing methods on whole-genome sequencing datasets.

The paper analyzes blood transcriptomes from dementia patients and controls, identifying a shared innate immune response across multiple dementia disorders.

The paper identifies homozygous protein-truncating variants in vervet monkeys using whole genome sequencing and explores their potential impact on early infant mortality.