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Author Details

Elia Stupka
Center for Omics Sciences, IRCCS San Raffaele Scientific Institute
2000
74
36
PMIDPaper TitleJournal TitlePublished Year
36553660A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility.Genes (Basel)2022
36553660A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility.Genes (Basel)2022
33991750Identification of differential DNA methylation associated with multiple sclerosis: A family-based study.J Neuroimmunol2021
33991750Identification of differential DNA methylation associated with multiple sclerosis: A family-based study.J Neuroimmunol2021
29566304Oligodendrocyte gene expression is reduced by and influences effects of chronic social stress in mice.Genes Brain Behav2019
30629636A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling.PLoS One2019
29566304Oligodendrocyte gene expression is reduced by and influences effects of chronic social stress in mice.Genes Brain Behav2019
30911134Immune signature drives leukemia escape and relapse after hematopoietic cell transplantation.Nat Med2019
31311575HMGA1 promotes breast cancer angiogenesis supporting the stability, nuclear localization and transcriptional activity of FOXM1.J Exp Clin Cancer Res2019
31311575HMGA1 promotes breast cancer angiogenesis supporting the stability, nuclear localization and transcriptional activity of FOXM1.J Exp Clin Cancer Res2019
30911134Immune signature drives leukemia escape and relapse after hematopoietic cell transplantation.Nat Med2019
30629636A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling.PLoS One2019
30332656BATLAS: Deconvoluting Brown Adipose Tissue.Cell Rep2018
30332656BATLAS: Deconvoluting Brown Adipose Tissue.Cell Rep2018
26732860The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment.Clin Immunol2017
28667090Lentiviral vectors escape innate sensing but trigger p53 in human hematopoietic stem and progenitor cells.EMBO Mol Med2017
29231921An RNA-Seq atlas of gene expression in mouse and rat normal tissues.Sci Data2017
26732860The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment.Clin Immunol2017
27770395Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.J Clin Immunol2017
29231921An RNA-Seq atlas of gene expression in mouse and rat normal tissues.Sci Data2017
28667090Lentiviral vectors escape innate sensing but trigger p53 in human hematopoietic stem and progenitor cells.EMBO Mol Med2017
27770395Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.J Clin Immunol2017
27097888Revealing the acute asthma ignorome: characterization and validation of uninvestigated gene networks.Sci Rep2016
27097888Revealing the acute asthma ignorome: characterization and validation of uninvestigated gene networks.Sci Rep2016
27121911Histone Modifications in a Mouse Model of Early Adversities and Panic Disorder: Role for Asic1 and Neurodevelopmental Genes.Sci Rep2016
27930306miR-17⿼92 family clusters control iNKT cell ontogenesis via modulation of TGF-β signaling.Proc Natl Acad Sci U S A2016
27930306miR-17⿼92 family clusters control iNKT cell ontogenesis via modulation of TGF-β signaling.Proc Natl Acad Sci U S A2016
27121911Histone Modifications in a Mouse Model of Early Adversities and Panic Disorder: Role for Asic1 and Neurodevelopmental Genes.Sci Rep2016
25564561The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.J Med Genet2015
25578394Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study.Clin Chim Acta2015
25564561The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.J Med Genet2015
25897122The BioMart community portal: an innovative alternative to large, centralized data repositories.Nucleic Acids Res2015
25644664Epigenetics and Future Generations.Bioethics2015
26185776Impact of MS genetic loci on familial aggregation, clinical phenotype, and disease prediction.Neurol Neuroimmunol Neuroinflamm2015
26413508Epigenomics of Neural Cells: REST-Induced Down- and Upregulation of Gene Expression in a Two-Clone PC12 Cell Model.Biomed Res Int2015
26617488REST-Governed Gene Expression Profiling in a Neuronal Cell Model Reveals Novel Direct and Indirect Processes of Repression and Up-Regulation.Front Cell Neurosci2015
26413508Epigenomics of Neural Cells: REST-Induced Down- and Upregulation of Gene Expression in a Two-Clone PC12 Cell Model.Biomed Res Int2015
26617488REST-Governed Gene Expression Profiling in a Neuronal Cell Model Reveals Novel Direct and Indirect Processes of Repression and Up-Regulation.Front Cell Neurosci2015
26185776Impact of MS genetic loci on familial aggregation, clinical phenotype, and disease prediction.Neurol Neuroimmunol Neuroinflamm2015
25897122The BioMart community portal: an innovative alternative to large, centralized data repositories.Nucleic Acids Res2015
25644664Epigenetics and Future Generations.Bioethics2015
25578394Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study.Clin Chim Acta2015
24412933Mutation of SALL2 causes recessive ocular coloboma in humans and mice.Hum Mol Genet2014
25342980VISPA: a computational pipeline for the identification and analysis of genomic vector integration sites.Genome Med2014
24412933Mutation of SALL2 causes recessive ocular coloboma in humans and mice.Hum Mol Genet2014
24362818Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma.Nat Genet2014
24449846Targeted transgene integration overcomes variability of position effects in zebrafish.Development2014
24628919Dissecting the signaling pathways associated with the oncogenic activity of MLK3 P252H mutation.BMC Cancer2014
24895435The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance.Nucleic Acids Res2014
25342980VISPA: a computational pipeline for the identification and analysis of genomic vector integration sites.Genome Med2014
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Collaborators

Co-authored papers 17
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Harvard University
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UCL Great Ormond Street Institute of Child Health, University College London
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University of Cambridge
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European Bioinformatics Institute (EBI)
Co-authored papers 3
UCL Cancer Institute, University College London
Co-authored papers 3
The Genome Institute of Singapore
Co-authored papers 3
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Eagle Genomics Ltd.
Co-authored papers 3
University of British Columbia
Co-authored papers 3
RIKEN Center for Integrative Medical Sciences
Co-authored papers 3
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William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
International Centre for Genetic Engineering and Biotechnology
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King Abdullah University of Science and Technology (KAUST)
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