Area of research
Genetics · Cancer Research
Research interest
Research focused on Sarcoidosis and Genetics, with related work in Proband, Breakpoint, Exome sequencing. Notable publications include 'Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts', 'Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders', and 'Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis'.
COPD patients with non-small cell lung cancer respond better to anti-PD-(L)1 immune checkpoint inhibitors
A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis
Comparison of Nucleic Acid Extraction Methods for a Viral Metagenomics Analysis of Respiratory Viruses
Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
<i>In Vivo</i> Characterization of the Toxicological Properties of DPhP, One of the Main Degradation Products of Aryl Phosphate Esters
Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis
Impact of Interleukin-6 on Drug-Metabolizing Enzymes and Transporters in Intestinal Cells
Whole <i>MYBPC3</i> NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy
Cross-platform comparison for the detection of RAS mutations in cfDNA (ddPCR Biorad detection assay, BEAMing assay, and NGS strategy)
The epilepsy phenotypic spectrum associated with a recurrent <i>CUX2</i> variant
Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy
Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA