About: Jean-François Deleuze

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An Entity of Type : foaf:Person, within Data Space : data.idref.fr associated with source document(s)

Attributes	Values
type	Person
sameAs	Deleuze, Jean-François (19..-.... ; chercheur en génomique) Deleuze, Jean-François (19..-.... ; chercheur en génomique)
Life Event	http://www.idref.fr/199292183/birth
preferred label	Deleuze, Jean-François (19..-.... ; chercheur en génomique)
name	Jean-François Deleuze
dbpedia-owl:citizenship	http://sws.geonames.org/3017382/
Language	http://lexvo.org/id/iso639-3/fra
Given name	Jean-François
familyName	Deleuze
has biographical i...tion (Deprecated)	Docteur CEA au Centre National de Genotypage. Rapporteur d'une thèse en Bioinformatique soutenue à l'Université de Lyon en 2016
gender	male
ORCID iD	0000-0002-5358-4463
Scopus ID	7003508096
is sameAs of	Deleuze, Jean-François (19..-.... ; chercheur en génomique) Deleuze, Jean-François (19..-.... ; chercheur en génomique) Deleuze, Jean-François (19..-.... ; chercheur en génomique) Deleuze, Jean-François (19..-.... ; chercheur en génomique) Deleuze, Jean-François (19..-.... ; chercheur en génomique) Deleuze, Jean-François (19..-.... ; chercheur en génomique) Deleuze, Jean-François (19..-.... ; chercheur en génomique) Deleuze, Jean-François (19..-.... ; chercheur en génomique)
is Thesis advisor of	Lien entre héritabilité et prédiction de phénotypes complexes chez l'humain, une approche du problème par la régression ridge sur des données de population http://www.sudoc.fr/261752952/id http://www.sudoc.fr/261812149/id http://www.sudoc.fr/260511412/id Signatures épigénétiques de la maladie d'Alzheimer dans l'ADN libre circulant http://www.sudoc.fr/253968976/id http://www.sudoc.fr/25464760X/id http://www.sudoc.fr/265589908/id http://www.sudoc.fr/282131256/id
is Author of	A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data A new genetic locus for antipsychotic-induced weight gain: A genome-wide study of first-episode psychosis patients using amisulpride (from the OPTiMiSE cohort) Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium GWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome 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 Evaluation of saliva as a source of accurate wholegenome and microbiome sequencing data Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study https://archive-ouverte.unige.ch/unige:163661#id Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in $Trypanosoma$ and human. Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells Heterogeneous SARS-CoV-2 humoral response after COVID-19 vaccination and/or infection in the general population Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe https://serval.unil.ch/notice/serval:BIB_31798B2B6490#id Molecular profiling of advanced soft-tissue sarcomas: the MULTISARC randomized trial Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm Association of impaired renal function with venous thrombosis: A genetic risk score approach Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea Extracellular vesicles from myelodysplastic mesenchymal stromal cells induce DNA damage and mutagenesis of hematopoietic stem cells through miRNA transfer Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden Association of modifiers and other genetic factors explain Marfan syndrome clinical variability Circulating plasma proteins and new-onset diabetes in a population-based study: proteomic and genomic insights from the STANISLAS cohort Bdf1 Bromodomains Are Essential for Meiosis and the Expression of Meiotic-Specific Genes Both rare and common genetic variants contribute to autism in the Faroe Islands Age, COVID-19-like symptoms and SARS-CoV-2 seropositivity profiles after the first wave of the pandemic in France Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23 Centenarians consistently present a younger epigenetic age than their chronological age with four epigenetic clocks based on a small number of CpG sites Genomic landscape of human diversity across Madagascar Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology Impact of natriuretic peptide polymorphisms on diastolic and metabolic function in a populational cohort: insights from the STANISLAS cohort B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation Circadian genes polymorphisms, night work and prostate cancer risk: Findings from the EPICAP study Selection of SNP subsets for association studies in candidate genes: comparison of the power of different strategies to detect single disease susceptibility locus effects. Risperidone response in patients with schizophrenia drives DNA methylation changes in immune and neuronal systems POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing Modulation of astrocyte reactivity improves functional deficits in mouse models of Alzheimer’s disease African Gene Flow Reduces Beta-Ionone Anosmia/Hyposmia Prevalence in Admixed Malagasy Populations Post-transcriptional regulation of Leishmania fitness gain Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity Deregulation of microRNA expression in monocytes and CD4+ T lymphocytes from patients with axial spondyloarthritis

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