Jean‐Claude Tardif

Met32 governs transcriptional control of sulfur metabolic flexibility and resistance to reactive sulfur species in the human fungal pathogen Candida albicans

This study identifies Met32 as a master regulator of sulfur utilization and resistance to reactive sulfur species in C. albicans, highlighting its role in fungal virulence.

CETP alternative splicing variation impacts human traits

This study shows that CETP isoforms influence human traits, particularly in pituitary and thyroid glands, and reveals tissue-specific CVD associations and epistatic interactions involving ADCY9.

Manganese homeostasis modulates glucan and chitin unmasking in the opportunistic yeast Candida albicans

This study shows that manganese homeostasis in Candida albicans affects cell wall integrity and antigen exposure, altering immune recognition.

Insights into Heart Failure Metabolite Markersthrough Explainable Machine Learning

This study uses machine learning and explainable AI to identify metabolite markers for heart failure, finding that lignoceric acid is a significant discriminator.

Low-dose colchicine treatment improves vasorelaxation, reduces arterial remodeling and attenuates blood pressure increases in spontaneously hypertensive rats

Assessing the role of rare pathogenic variants in heart failure progression by exome sequencing in 8,089 patients

This study identifies seven genes associated with heart failure progression using exome sequencing in 8,089 patients and prioritizes them for therapeutic target validation.

Study of effect modifiers of genetically predicted CETP reduction

This study examines how sex and BMI modify the effect of genetically predicted lower CETP levels on lipid biomarkers and cardiovascular outcomes using observational genetic data.

Amyloid-PET of the white matter: relationship to free water, fiber integrity, and cognition in patients with dementia and small vessel disease

This study examines the relationship between amyloid-PET signals in white matter and microstructural changes like free water and fiber integrity, finding that free water and WMH volume are more closely linked to Aβ-PET in WMH regions.

ExPheWas: a browser for gene-based pheWAS associations

ExPheWas provides a web-based browser to explore gene-phenotype associations from a pheWAS study in the UK Biobank, identifying potential disease-related genes like MYOT for atrial fibrillation.

Deep Bayesian networks for uncertainty estimation and adversarial resistance of white matter hyperintensity segmentation

This paper introduces a Bayesian 3D U-Net for WMH segmentation that provides uncertainty estimates and is robust to imaging variations, achieving high accuracy and efficiency.

A sex-specific evolutionary interaction between ADCY9 and CETP

The paper identifies a sex-specific evolutionary interaction between ADCY9 and CETP variants associated with dalcetrapib response and cardiovascular traits.

Improved segmentation of the intracranial and ventricular volumes in populations with cerebrovascular lesions and atrophy using 3D CNNs

The paper introduces CNN-based models for segmenting intracranial and ventricular volumes in neuroimaging data, showing improved accuracy and efficiency compared to existing methods.

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

The Polygenic and Monogenic Basis of Blood Traits and Diseases

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

Inherited chromosomally integrated HHV-6 demonstrates tissue-specific RNA expression in vivo that correlates with increased antibody immune response.

This study identifies tissue-specific RNA expression of integrated HHV-6A/B in vivo and links it to increased antibody responses against specific viral antigens.

Validation of genome-wide polygenic risk scores for coronary artery disease in French Canadians

This study validates two genome-wide polygenic risk scores for coronary artery disease in French Canadians, showing good performance for prevalent CAD but limited utility for incident and recurrent CAD.

Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior

The paper analyzes rare coding variants in smoking and drinking behavior using exome chip data, finding that they contribute to phenotypic variation but require larger samples for individual variant associations.

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.