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Comparison of the immunological and virological responses to cART between HIV-1/O and HIV-1/M patients followed up in France
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Comprehensive molecular portrait reveals genetic diversity and distinct molecular subtypes of small intestinal neuroendocrine tumors
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Genome‐Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity
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SURFBAT: a surrogate family based association test building on large imputation reference panels
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Human genetic structure in Northwest France provides new insights into West European historical demography
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Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
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Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
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Multiomic profiling of new-onset kidney function decline: insights from the STANISLAS study cohort with a 20-year follow-up
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hal-04660216
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De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes
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hal-04609850
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Long Noncoding VIM-AS1: Biomarker of Breast Fibrosis Susceptibility After Radiation Therapy and Promoter of Transforming Growth Factor Beta1–Driven Fibrosis
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hal-04910059
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Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels
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hal-04616627
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Upstream open reading frame-introducing variants in patients with primary familial brain calcification
Anne Rovelet-Lecrux
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hal-04659594
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Layer myocardial strain is the most heritable echocardiographic trait
Olivier Huttin
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Article dans une revue
hal-04192912
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Heritable defects in telomere and mitotic function selectively predispose to sarcomas
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hal-04188088
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Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease
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hal-04028558
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Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity
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inserm-04062865
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WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
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hal-04188206
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Risperidone response in patients with schizophrenia drives DNA methylation changes in immune and neuronal systems
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inserm-04044562
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Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity
Lise Mangiante
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hal-05036220
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The CEPH aging cohort and biobank: a valuable collection of biological samples from exceptionally long-lived French individuals and their offspring for longevity studies
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inserm-04787237
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Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden
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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia
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hal-03642664
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Global genome decompaction leads to stochastic activation of gene expression as a first step toward fate commitment in human hematopoietic cells
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hal-04025552
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The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol
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hal-03678712
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Operational tolerance after hematopoietic stem cell transplantation is characterized by distinct transcriptional, phenotypic, and metabolic signatures
Laetitia Dubouchet
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hal-03599282
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A functional operon delineates an extracellular pathway that controls body asymmetry only in animals with a ciliated left-right organizer
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hal-03876795
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Weak association between genetic markers of hyperuricemia and cardiorenal outcomes: insights from the STANISLAS study cohort with a 20‐year follow‐up
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hal-03652891
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A Multimodal Omics Exploration of the Motor and Non-Motor Symptoms of Parkinson’s Disease
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Article dans une revue
hal-04577644
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Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form associated genes provides new insights for molecular diagnosis and clinical management.
Adeline Goudal
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hal-03722211
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Experimental evolution links post-transcriptional regulation to Leishmania fitness gain
Laura Piel
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Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development
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hal-03872724
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Identification of risk loci for primary aldosteronism in genome-wide association studies
Edith Le Floch
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inserm-03845164
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Fatty acid desaturase genetic variations and dietary omega-3 fatty acid intake associate with arterial stiffness
Magnus Bäck
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hal-03613927
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Heterogeneous SARS-CoV-2 humoral response after COVID-19 vaccination and/or infection in the general population
Fabrice Carrat
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hal-03737986
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Role of DNA Repair Variants and Diagnostic Radiology Exams in Differentiated Thyroid Cancer Risk: A Pooled Analysis of Two Case–Control Studies
Monia Zidane
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hal-03378112
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African Gene Flow Reduces Beta-Ionone Anosmia/Hyposmia Prevalence in Admixed Malagasy Populations
Harilanto Razafindrazaka
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hal-03432438
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Laurence Colleaux
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Article dans une revue
hal-03472613
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Genomic insights into population history and biological adaptation in Oceania
Jeremy Choin
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pasteur-03205291
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Age, COVID-19-like symptoms and SARS-CoV-2 seropositivity profiles after the first wave of the pandemic in France
Fabrice Carrat
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hal-03456505
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Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Virginie Carmignac
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Article dans une revue
hal-03602381
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Association of ABO haplotypes with the risk of venous thrombosis: impact on disease risks estimation
Louisa Goumidi
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hal-03135635
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Risk Scores in ST-Segment Elevation Myocardial Infarction Patients with Refractory Cardiogenic Shock and Veno-Arterial Extracorporeal Membrane Oxygenation
Sophie Garnier
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Stefan Weiss
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Article dans une revue
hal-03656015
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Heterogeneous Hunter-Gatherer and Steppe-Related Ancestries in Late Neolithic and Bell Beaker Genomes from Present-Day France
Andaine Seguin-Orlando
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Article dans une revue
hal-03150872
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Antibody status and cumulative incidence of SARS-CoV-2 infection among adults in three regions of France following the first lockdown and associated risk factors: a multicohort study
Fabrice Carrat
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Article dans une revue
hal-03600604
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Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
Kévin Uguen
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Article dans une revue
hal-03282329
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Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23
Sophie Garnier
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Article dans une revue
hal-03567179
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Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia
Antoine Rimbert
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Article dans une revue
hal-03105646
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Molecular profiling of advanced soft-tissue sarcomas: the MULTISARC randomized trial
Antoine Italiano
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inserm-03472913
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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Virginie Carmignac
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Cyril Mignot
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Paul Kuentz
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Marie-Hélène Aubriot-Lorton
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Article dans une revue
hal-03602359
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
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hal-03007093
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Evaluation of saliva as a source of accurate wholegenome and microbiome sequencing data
Anthony Francis Herzig
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inserm-03526795
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Fine-mapping of two differentiated thyroid carcinoma susceptibility loci at 2q35 and 8p12 in Europeans, Melanesians and Polynesians
Julie Guibon
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hal-03378212
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Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma
Om Kulkarni
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hal-03243030
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Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
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PIntMF: Penalized Integrative Matrix Factorization method for multi-omics data
Morgane Pierre-Jean
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Article dans une revue
hal-03154671
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Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas
Lenha Mobuchon
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Article dans une revue
hal-03326678
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Region-specific expression of young small-scale duplications in the human central nervous system
Solène Brohard-Julien
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Article dans une revue
hal-03353892
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Papua New Guinean genomes reveal the complex settlement of north Sahul
Nicolas Brucato
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Article dans une revue
hal-03320801
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Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy
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Article dans une revue
hal-03613299
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Genetics of severe hypercholesterolemia in the general population
Constance Xhaard
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Article dans une revue
hal-03579126
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The Importance Of Naturally Attenuated Sars-Cov-2 In The Fight Against Covid-19
J. Armengaud
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hal-02571406
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POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4
Elodie Sanchez
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Article dans une revue
hal-02549940
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Gene expression and response prediction to amisulpride in the OPTiMiSE first episode psychoses
Réjane Troudet
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Article dans une revue
inserm-03130159
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PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment
Luca Kleineidam
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hal-03150932
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cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
Carolina Uggenti
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Article dans une revue
hal-03367600
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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation
J. C. Bis
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Article dans une revue
hal-03177410
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Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Martin Chevarin
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Article dans une revue
hal-03619568
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A new genetic locus for antipsychotic-induced weight gain: A genome-wide study of first-episode psychosis patients using amisulpride (from the OPTiMiSE cohort)
Sophie ter Hark
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inserm-03130632
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Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Thomas Husson
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Article dans une revue
hal-02538173
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Circulating plasma proteins and new-onset diabetes in a population-based study: proteomic and genomic insights from the STANISLAS cohort
Joao Pedro Ferreira
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Constance Xhaard
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Article dans une revue
hal-02917113
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Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
Sahar Elouej
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Article dans une revue
hal-02942760
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Papuan mitochondrial genomes and the settlement of Sahul
Nicole Pedro
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Article dans une revue
hal-02774590
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A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon
Sylvie Labrouche-Colomer
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Article dans une revue
inserm-03014711
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PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS Cohort
Joao Pedro Ferreira
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Article dans une revue
hal-02611622
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Deregulation of microRNA expression in monocytes and CD4+ T lymphocytes from patients with axial spondyloarthritis
Olivier Fogel
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Article dans une revue
hal-03642295
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RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome
Nadjet Belbachir
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Article dans une revue
inserm-02158572
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ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
Xavière Lornage
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Article dans une revue
hal-03676431
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Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism
Sara Lindström
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Article dans une revue
hal-02542549
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OPTIMIR, a novel algorithm for integrating available genome-wide genotype data into miRNA sequence alignment analysis
Florian Thibord
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Mitochondrial ncRNA targeting induces cell cycle arrest and tumor growth inhibition of MDA-MB-231 breast cancer cells through reduction of key cell cycle progression factors
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Pathway analysis integrating genome-wide and functional data identifies PLCG2 as a candidate gene for age-related macular degeneration
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Genetic susceptibility to radiation-related differentiated thyroid cancers: a systematic review of literature
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La propriété des données génétiques
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Analysis of shared heritability in common disorders of the brain
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Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei
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Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in $Trypanosoma$ and human.
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Modulation of astrocyte reactivity improves functional deficits in mouse models of Alzheimer’s disease
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Systemic AA amyloidosis caused by inflammatory hepatocellular adenoma
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STAT3 Mediates Nilotinib Response in KIT-Altered Melanoma: A Phase II Multicenter Trial of the French Skin Cancer Network
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
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Genome-Wide Association Study Identifies a Novel Genetic Risk Factor for Recurrent Venous Thrombosis
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
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MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data
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Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state
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Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
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Homozygous truncating variants in TBC1D23 cause pontocerebellar hypoplasia and alter cortical development
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Association of impaired renal function with venous thrombosis: A genetic risk score approach
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Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation
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17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
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Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features
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Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
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Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing
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A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype
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Contribution to Alzheimer's disease risk of rare variants in TREM_2, SORL_1, and ABCA_7 in 1779 cases and 1273 controls
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Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
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Genomic landscape of human diversity across Madagascar
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Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A
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Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
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Pulmonary endothelial cell DNA methylation signature in pulmonary arterial hypertension
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Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
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Genome-Wide Methylation Analysis Identifies Specific Epigenetic Marks In Severely Obese Children
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Histone variant H2A.J accumulates in senescent cells and promotes inflammatory gene expression
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
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Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds
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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
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Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.
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The French Chronic Kidney Disease-Renal Epidemiology and Information Network (CKD-REIN) cohort study
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Selection of SNP subsets for association studies in candidate genes: comparison of the power of different strategies to detect single disease susceptibility locus effects.
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