Stéphanie Debette

APOE-ϵ4-induced Fibronectin at the blood-brain barrier is a conserved pathological mediator of disrupted astrocyte-endothelia interaction in Alzheimer's disease

This paper identifies APOE-ϵ4-induced fibronectin accumulation at the blood-brain barrier as a key mediator of astrocyte-endothelial dysfunction in Alzheimer's disease, highlighting it as a potential therapeutic target.

Multi-trait Polygenic Profiling and Survival Free of Dementia and Disability: Results from the Health and Retirement Study

This study shows that adverse polygenic profiles for dementia are linked to higher risks of dementia, disability, or death in middle-aged and older adults.

Genomic Evidence Links Inflammation to Residual Pulmonary Vascular Obstruction and Risk of Pulmonary Embolism Recurrence

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

Characterization of variants associated with Cerebral Small Vessel Disease identifies a functional SNV in Versican

The paper identifies a functional SNV in Versican associated with Cerebral Small Vessel Disease using MPRA and validates its effect on transcriptional activity.

A mitochondrial program encodes brain vascular reserve

The paper shows mitochondrial state in zebrafish tip cells encodes brain collateral network topology, with microRNA-125a regulating mitochondrial function to influence vascular resilience.

Plasma Proteomics and Sensitive Imaging Biomarkers of Vascular Brain Injury

The paper identifies plasma proteins associated with diffusion tensor imaging biomarkers of white matter injury and suggests potential causal relationships using Mendelian randomization.

The Ethnic/Racial Variations of Intracerebral Hemorrhage Genetics (ERICH-GENE) Study Protocol

ERICH-GENE collects and analyzes genomic and neuroimaging data from over 10,000 multi-ethnic ICH cases to identify genetic risk factors and trans-ethnic variation in ICH.

Recurrent stroke prediction by applying a stroke polygenic risk score in the Japanese population

This study develops a polygenic risk score (metaGRS) for predicting recurrent stroke in the Japanese population using data from the BioBank Japan cohort, finding it associates with increased recurrence risk, particularly in individuals without hypertension.

Genomic Landscape of Thrombosis Recurrence Risk Across Venous Thromboembolism Subtypes

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

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

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

Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries

The paper conducts GWAS on brain volumes, identifies genetic loci, and develops polygenic scores with cross-ancestry predictive ability and causal links to neuropsychiatric disorders.

Cerebral Small Vessel Disease genetic determinant TRIM47 controls brain homeostasis via the NRF2 antioxidant system

This study identifies TRIM47 as a genetic determinant of cerebral small vessel disease, showing it regulates brain homeostasis through the NRF2 antioxidant pathway by stabilizing NRF2 protein levels.

Single nuclear transcriptional signatures of dysfunctional brain vascular homeostasis in Alzheimer's disease

The paper identifies transcriptional signatures in vascular cells from Alzheimer's disease brains, revealing dysregulated pathways linked to vascular dysfunction and immune activation.

Unveiling Endoglin non canonical regulation: spotlight on the new role of the uPAR pathway

This study identifies ENG 5UTR variants altering upstream ORFs that reduce Endoglin levels and links uPAR pathway loci to soluble Endoglin levels through proteogenomics and functional assays.

Early detection of white matter hyperintensities using SHIVA-WMH detector

The paper introduces a deep learning tool, SHIVA-WMH, for detecting white matter hyperintensities across different WMH severities and demonstrates its superior performance compared to existing methods.

Complexities of cerebral small vessel disease, blood pressure, and dementia relationship: new insights from genetics

This paper uses genetic data to investigate the causal relationships between vascular traits like white matter hyperintensity, blood pressure, and stroke with dementia and Alzheimer's disease risk.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

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.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

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.

A meta-analysis of genome-wide association studies identifies new genetic loci associated with all-cause and vascular dementia

This study performs a meta-analysis of GWAS to identify new genetic loci associated with all-cause and vascular dementia, revealing shared and distinct risk factors.

Genome-wide association meta-analysis of spontaneous coronary artery dissection reveals common variants and genes related to artery integrity and tissue-mediated coagulation

This study identifies 17 genetic risk loci for spontaneous coronary artery dissection (SCAD), including 12 new ones, and highlights genes related to artery integrity and coagulation.

Genome-wide association meta-analysis supports genes involved in valve and cardiac development to associate with mitral valve prolapse

The paper performs a genome-wide association meta-analysis of mitral valve prolapse, identifying new risk loci and genes involved in cardiac development and aging.

Changes in regional white matter volumetry and microstructure during the post-adolescence period: a cross-sectional study of a cohort of 1,713 university students

This study examines regional changes in white matter volume and microstructure in young adults using MRI data from 1,713 university students, revealing age-related variations in microstructural properties.

The MRi-Share database: brain imaging in a cross-sectional cohort of 1,870 university students

The paper introduces the MRi-Share database, a multi-modal brain MRI dataset of 1,870 young adults, and presents preliminary findings on age and sex associations with brain phenotypes.

Genetic association studies of fibromuscular dysplasia identify new risk loci and shared genetic basis with more common vascular diseases

Age-related changes of Peak width Skeletonized Mean Diffusivity (PSMD) across the adult life span: a multi-cohort study

This study examines age-related changes in PSMD across the adult lifespan using multi-cohort diffusion tensor imaging data, finding PSMD increases consistently while other metrics show different age patterns.

Planar cell polarity pathway and development of the human visual cortex

The paper identifies genetic associations with cortical surface area using PCA and GWAS, linking DAAM1 to visual cortex development through mitochondrial pathways and thalamocortical input.

Genetic determinants of risk and survival in pulmonary arterial hypertension

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.