Jean‐François Deleuze

The paper uses a five-layer systems analysis to show that protein degradation, not genomic changes, drives stage differentiation in Leishmania parasites.

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

This study constructs a high-resolution placental mQTL resource and investigates how placental DNA methylation relates to early- and later-life traits and their shared vulnerability.

This study identifies genetic loci associated with residual pulmonary vascular obstruction and links inflammation to its risk, while showing limited role of impaired fibrinolysis.

The paper identifies hybridization between Leishmania species as a driver of pathogenicity shift in Leishmania infantum causing cutaneous leishmaniasis.

The paper conducts a multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycemic traits, identifying novel loci and highlighting limited pregnancy-specific genetic effects.

This study compares short and long read sequencing technologies for human genome profiling, finding they are equivalent for SNVs but long reads excel in structural variants and haplotype phasing.

This paper shows that repurposing existing human WGS saliva data for microbiome profiling is feasible, with sequencing depth overcoming extraction bias and enabling robust oral microbiome analysis.

This study investigates the association between ABO blood groups and residual pulmonary vascular obstruction in patients with unprovoked pulmonary embolism but finds no significant link.

The paper analyzes how neoantigenic properties of TP53 variants correlate with cancer risk and presentation in Li-Fraumeni syndrome carriers.

The paper introduces a multiscale resource integrating genetics, brain imaging, and clinical data from autistic individuals and their relatives to explore genetic and neurobiological patterns in autism.

This study uses single-cell RNA sequencing to identify distinct HF stem cell differentiation trajectories in HS patients, linking them to three clinical endotypes defined by inflammation, keratinization, and mixed features.

The paper conducts a GWAS to identify genetic polymorphisms associated with vaginal microbiota diversity in French women using data from the PAPCLEAR cohort.

The paper identifies novel drug candidates for ALS and monogenic diseases by analyzing drug-induced gene expression changes in human pluripotent stem cells using RNA sequencing.

The paper reanalyzes genomic data from HIV-1 Elite Controllers to identify MHC-associated SNPs and HLA alleles, revealing haploblock effects and novel mechanisms for EC.

SURFBAT approximates transmission-disequilibrium tests using imputed haplotypes to detect genotype-phenotype associations while being robust to population stratification.

The paper identifies genetic loci and proteins associated with venous thromboembolism recurrence risk using GWAS and subgroup analyses across different thrombotic subtypes.

This study identifies 80 genetic loci and 61 effector genes associated with dilated cardiomyopathy through GWAS and integrates transcriptomic data to uncover biological pathways and cellular states involved in the disease.

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

This study uses whole genome sequencing to identify 18 novel genetic loci associated with plasma fibrinogen levels, including variants more common in African populations and linked to liver-related traits and disease.

This study develops multi-ancestry polygenic risk scores for venous thromboembolism using diverse GWAS data and shows improved predictive performance across European- and African-ancestry populations.

This study shows that PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease-related markers in neurons.

The paper sequenced 14 Moroccan Leishmania tropica isolates to study genomic heterogeneity, identifying a core group and two divergent strains with distinct SNP profiles.

The paper presents genome sequences of four Ixodes species, revealing gene family amplifications and evolutionary patterns in ticks.

The paper identifies PSKH2 as a gene influencing variability in Factor V plasma activity through genome-wide analysis of non-additive allele effects.

The paper evaluates whether using a local reference panel improves imputation accuracy in French individuals compared to a public reference panel, showing benefits of combining both approaches.

This study estimates heritability using Copy Number Variants (CNVs) and SNPs from UK Biobank data, finding a small CNV heritability for hypertension.

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.