Area of research
Genetics · Physiology
Research interest
Research interests include Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genetics and Neurodevelopmental Disorders, and Alzheimer's disease research and treatments.
Molecular determinants of thrombosis recurrence risk across venous thromboembolism subtypes
C-terminal binding protein-2 triggers CYR61-induced metastatic dissemination of osteosarcoma in a non-hypoxic microenvironment
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors
Association of Rare <i>APOE</i> Missense Variants V236E and R251G With Risk of Alzheimer Disease
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease
Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23
Mutations and variants of ONECUT1 in diabetes
Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytes
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation
Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
A large‐scale exome array analysis of venous thromboembolism
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
Histone variant H2A.J accumulates in senescent cells and promotes inflammatory gene expression