Plan du site
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- Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.
- Association of ABO blood groups with venous thrombosis recurrence in middle-aged patients: insights from a weighted Cox analysis dedicated to ambispective design
- DNA methylation analysis identifies novel genetic loci associated with circulating fibrinogen levels in blood.
- 1 - Technicien(ne) de laboratoire CDD
- Politique de confidentialité
- ZOOM SEMINAR Polygenic Risk Scores: The Shortest Route from Bench to Bedside
- MOOC BiG - Bioinformatique pour la Génétique Médicale
- The GENMED Workshop 2020 is postponed due to the Coronavirus.
- GENMED Workshop 2018
- Summer school Genopole 2017
- Journée des internes en Génétique Médicale au CNG
- Journée étudiants
- Kick-off : lancement du Laboratoire d'excellence en Génomique Médicale
- Partenaires
- Organisation
- Jean-François Deleuze
- François Cambien
- Hélène Blanché
- Laurence Tiret
- David-Alexandre Trégouët
- Steven McGinn
- Robert Olaso
- Conseil scientifique
- Recherche
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- Publications
- Polygenic risk of Major Depressive Disorder as a risk factor for Venous Thromboembolism
- Genome-wide association study of a semicontinuous trait: illustration of the impact of the modeling strategy through the study of Neutrophil Extracellular Traps levels.
- Novel Cardiokine GDF3 Predicts Adverse Fibrotic Remodeling After Myocardial Infarction
- Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score. (2)
- Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.
- APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis
- Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays
- Small Open Reading Frames, How to Find Them and Determine Their Function.
- Common and rare 5’UTR variants altering upstream Open Reading Frames in cardiovascular genomics.
- Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation
- Explainable Artificial Neural Network for Recurrent Venous Thromboembolism Based on Plasma Proteomics.
- Association of ABO haplotypes with the risk of venous thrombosis: impact on disease risks estimation
- A Novel Rare c.-39C>T Mutation in the PROS1 5'UTR Causing PS Deficiency by Creating a New Upstream Translation Initiation Codon.
- Bayesian Network Analysis of plasma microRNA sequencing data in patients with venous thrombosis.
- High-dimensional multi-block analysis of factors associated with thrombin generation potential.
- Unification of miRNA and isomiR research: the mirGFF3 format and the mirtop API
- Genomic and Transcriptomic Association Studies Identify 16 Novel Susceptibility Loci for Venous Thromboembolism.
- Associations of autozygosity with a broad range of human phenotypes.
- Evaluation of six blood-based age prediction models using DNA methylation analysis by pyrosequencing.
- Both rare and common genetic variants contribute to autism in the Faroe Islands
- OPTIMIR, a novel algorithm for integrating available genome-wide genotype data into miRNA sequence alignment analysis
- Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation
- Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
- A large‐scale exome array analysis of venous thromboembolism
- Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.
- Human thymopoiesis is influenced by a common genetic variant within the TCRA-TCRD locus
- Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation
- Whole-Blood miRNA Sequencing Profiling for Vasospasm in Patients With Aneurysmal Subarachnoid Hemorrhage
- MACARON: A python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data.
- Improved Microsatellite Instability Detection and Identification by Nuclease-Assisted Microsatellite Instability Enrichment Using HSP110 T17.
- Cerebellar Volume in Autism: Literature Meta-analysis and Analysis of the Autism Brain Imaging Data Exchange Cohort.
- Heritability of the melatonin synthesis variability in autism spectrum disorders
- Contribution to Alzheimer’s disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
- A framework to identify contributing genes in patients with Phelan-McDermid syndrome
- Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study.
- Genome-Wide Association Study Identifies a Novel Genetic Risk Factor for Recurrent Venous Thrombosis
- Plasma levels of hsa-miR-152-3p are associated with diabetic nephropathy in patients with type 2 diabetes
- A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype
- Association of impaired renal function with venous thrombosis: A genetic risk score approach.
- Fibrogenic Potential of PW1/Peg3 Expressing Cardiac Stem Cells
- Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome.
- ABCA7 rare variants and Alzheimer disease risk. Neurology.
- A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
- Nicotine consumption is regulated by a human polymorphism in dopamine neurons
- CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders (2)
- The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma
- Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk
- Is there still room for additional common susceptibility alleles for venous thromboembolism ?
- Genetics of Venous Thrombosis : update in 2015
- SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease
- Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism
- Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease
- Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
- Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus
- Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
- Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans
- A tool for RNA sequencing sample identity check
- Formation
- Master 2 ISG
- Enseignement aux internes
- Offres d'emplois
- Evénements
- Séminaires
- Réunion annuelle
- Précédents séminaires
- Mutations post-zygotique (mosaïcisme) et maladies mendeliennes: contribution de ces mutations dans la pathogénie des malformations du développement corticales (MDC)
- Microbiome et cardiométabolisme
- Combating cancer: from magic bullets to synthetic interactions and signaling network modeling
- Rod-derived Cone Viability Factor signaling for Treating Inherited Retinal Blindness
- Le cancer en France en 2015
- Facteurs de prédisposition génétique et épigénétique dans la spondyloarthrite : le point en 2015
- Syndrome de Marfan et anévrysmes de l'aorte: des gènes majeurs aux gènes modificateurs
- Peripheral Blood DNA : a good model for investigating epigenetic marks in cardiometabolic diseases ?
- Dengue research framework for resisting epidemics in Europe
- Analysis of the transcriptome of circulating monocytes and macrophages in human populations
- Génétique du cancer de la prostate : où en sommes nous?
- Renal Glomerular Disease Genes: the Next Generation
- Génétique de la Maladie de Parkinson
- Genetic and clinical diversity of biliary diseases in children
- Facteurs culturels et diversité génétique humaine
- Mentions légales
