Eleonora Porcu

The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.

Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.

How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.

Assessed papers (1)

• Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome.
  2021 L1 100/100

1 assessed by us (1 reproduced) · 71 not yet assessed — every PubMed paper on record, linked below.

• Unsupervised Particle Tracking with Neuromorphic Computing ↗

  arXiv (Cornell University) · 2025
  not yet assessed
• DNA methylation may partly explain psychotropic drug-induced metabolic side effects: results from a prospective 1-month observational study ↗

  Clinical Epigenetics · 2024 · PMID 38419113
  not yet assessed
• Participation bias in the UK Biobank distorts genetic associations and downstream analyses ↗

  Nature Human Behaviour · 2023 · PMID 37106081
  not yet assessed
• Genome-wide Association Studies of Retinal Vessel Tortuosity Identify Numerous Novel Loci Revealing Genes and Pathways Associated With Ocular and Cardiometabolic Diseases ↗

  Ophthalmology Science · 2023 · PMID 37131961
  not yet assessed
• Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations ↗

  eLife · 2023 · PMID 36891970
  not yet assessed
• Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts ↗

  npj Genomic Medicine · 2023 · PMID 37225732
  not yet assessed
• A cross-disorder dosage sensitivity map of the human genome ↗

  Cell · 2022 · PMID 35917817
  not yet assessed
• The individual and global impact of copy-number variants on complex human traits ↗

  The American Journal of Human Genetics · 2022 · PMID 35240056
  not yet assessed
• Sphingolipids accumulate in aged muscle, and their reduction counteracts sarcopenia ↗

  Nature Aging · 2022 · PMID 37118545
  not yet assessed
• Quantifying the role of transcript levels in mediating DNA methylation effects on complex traits and diseases ↗

  Nature Communications · 2022 · PMID 36477627
  not yet assessed
• Limited evidence for blood eQTLs in human sexual dimorphism ↗

  Genome Medicine · 2022 · PMID 35953856
  not yet assessed
• Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations ↗

  Human Genetics and Genomics Advances · 2022 · PMID 36035246
  not yet assessed
• Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts ↗

  npj Genomic Medicine · 2022 · PMID 35715439
  not yet assessed
• Correction for participation bias in the UK Biobank reveals non-negligible impact on genetic associations and downstream analyses ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• Omics-informed CNV calls reduce false positive rate and improve power for CNV-trait associations ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• A polygenic risk score to predict sudden cardiac arrest in patients with coronary artery disease ↗

  medRxiv · 2022
  not yet assessed
• A cross-disorder dosage sensitivity map of the human genome ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• Author response: Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations ↗

  2022
  not yet assessed
• A cross-disorder dosage sensitivity map of the human genome ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• Additional file 2 of Limited evidence for blood eQTLs in human sexual dimorphism ↗

  Open MIND · 2022
  not yet assessed
• Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression ↗

  Nature Genetics · 2021 · PMID 34475573
  not yet assessed
• Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

  Nature Communications · 2021 · PMID 34561431
  L1 100/100
• Genome-wide association study of circulating interleukin 6 levels identifies novel loci ↗

  Human Molecular Genetics · 2021 · PMID 33517400
  not yet assessed
• Triangulating evidence from longitudinal and Mendelian randomization studies of metabolomic biomarkers for type 2 diabetes ↗

  Scientific Reports · 2021 · PMID 33737653
  not yet assessed
• Gene regulation contributes to explain the impact of early life socioeconomic disadvantage on adult inflammatory levels in two cohort studies ↗

  Scientific Reports · 2021 · PMID 33542415
  not yet assessed
• Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

  Figshare · 2021
  not yet assessed
• A cross-disorder dosage sensitivity map of the human genome ↗

  medRxiv · 2021
  not yet assessed
• The individual and global impact of copy number variants on complex human traits ↗

  medRxiv · 2021
  not yet assessed
• Quantifying mediation between omics layers and complex traits ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• PRF1変異は免疫系活性化,炎症および自己免疫のリスクを変化させる【JST・京大機械翻訳】

  Multiple Sclerosis Journal · 2021
  not yet assessed
• <i>PRF1</i> mutation alters immune system activation, inflammation, and risk of autoimmunity ↗

  Multiple Sclerosis Journal · 2020 · PMID 33566725
  not yet assessed
• Causal Inference Methods to Integrate Omics and Complex Traits ↗

  Cold Spring Harbor Perspectives in Medicine · 2020 · PMID 32816877
  not yet assessed
• Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome ↗

  medRxiv · 2020
  not yet assessed
• GWAS of Retinal Vessel Tortuosity Identifies 173 Novel Loci Revealing Genes and Pathways Associated with Vascular Pathomechanics and Cardiometabolic Diseases ↗

  medRxiv · 2020
  not yet assessed
• The role of gene expression on human sexual dimorphism: too early to call ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Gene regulation contributes to explain the impact of early life socioeconomic disadvantage on adult inflammatory levels in two European cohort studies ↗

  medRxiv · 2020
  not yet assessed
• Identification of metabolomics biomarkers for type 2 diabetes: triangulating evidence from longitudinal and Mendelian randomization analyses ↗

  medRxiv · 2020
  not yet assessed
• Genome wide association study of circulating interleukin 6 levels identifies novel loci

  Murdoch Research Repository (Murdoch University) · 2020
  not yet assessed
• Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits ↗

  Nature Communications · 2019 · PMID 31341166
  not yet assessed
• The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals ↗

  The American Journal of Human Genetics · 2019 · PMID 31668704
  not yet assessed
• AMH, AFC and FSH long term follow up before and after chemotherapy in patients undergoing temporary ovarian suppression with GnRH analogs

  Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) · 2019
  not yet assessed
• The human-specific <i>BOLA2</i> duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2019
  not yet assessed
• Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

  Data Archiving and Networked Services (DANS) · 2019
  not yet assessed
• Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation ↗

  Nature Communications · 2018 · PMID 30367059
  not yet assessed
• Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2018
  not yet assessed
• Mendelian Randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2018
  not yet assessed
• Effects of cancer on ovarian reserve and ovarian response to stimulation ↗

  2018
  not yet assessed
• CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits ↗

  Nature Communications · 2017 · PMID 28963451
  not yet assessed
• Bayesian association scan reveals loci associated with human lifespan and linked biomarkers ↗

  Nature Communications · 2017 · PMID 28748955
  not yet assessed
• Disease-Informed Bayesian Association Scan Reveals Novel Loci Associated with Human Lifespan and Linked Biomarkers

  Infoscience (Ecole Polytechnique Fédérale de Lausanne) · 2017
  not yet assessed
• Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation ↗

  Science Advances · 2016 · PMID 27386562
  not yet assessed
• Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers ↗

  Nature Genetics · 2015 · PMID 26366554
  not yet assessed
• Whole-genome sequence-based analysis of thyroid function ↗

  Nature Communications · 2015 · PMID 25743335
  not yet assessed
• Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels ↗

  Nature Genetics · 2015 · PMID 26366553
  not yet assessed
• Sequence-based GWAS using thousands Sardinian genomes: an application to quantitative traits

  UnissResearch (Università degli Studi di Sassari) · 2015
  not yet assessed
• In search of rare variants: Preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes ↗

  Psychophysiology · 2014 · PMID 25387710
  not yet assessed
• The association of thyroid peroxidase antibody risk loci with susceptibility to and phenotype of Graves' disease ↗

  Clinical Endocrinology · 2014 · PMID 25345847
  not yet assessed
• Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease

  UWA Profiles and Research Repository (University of Western Australia) · 2014
  not yet assessed
• Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny ↗

  Science · 2013 · PMID 23908240
  not yet assessed
• Genotype Imputation in Genome‐Wide Association Studies ↗

  Current Protocols in Human Genetics · 2013 · PMID 23853078
  not yet assessed
• Sequencing-based GWAS on peripheral blood monocyte counts in the SardiNIA cohort

  UNICA IRIS Institutional Research Information System (University of Cagliari) · 2013
  not yet assessed
• A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation ↗

  PLoS Genetics · 2012 · PMID 22291609
  not yet assessed
• Post GWAS analysis of a BCLA intronic region to define its role in regulating HbF levels

  UNICA IRIS Institutional Research Information System (University of Cagliari) · 2012
  not yet assessed
• Seventy-five genetic loci influencing the human red blood cell

  Maynooth University ePrints and eTheses Archive (Maynooth University) · 2012
  not yet assessed
• Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels ↗

  Human Molecular Genetics · 2010 · PMID 21208937
  not yet assessed
• Subject Index, Vol. 24, 1986 ↗

  Hormone Research · 2008
  not yet assessed
• Contents, Vol. 39, 1993 ↗

  Hormone Research · 2008
  not yet assessed
• Announcement ↗

  Hormone Research · 2008
  not yet assessed
• Book Reviews ↗

  Hormone Research · 2008
  not yet assessed
• Author Index, Vol. 24, 1986 ↗

  Hormone Research · 2008
  not yet assessed
• FIRST DELIVERY FROM AUTOLOGOUS FROZEN EGGS IN A CANCER PATIENT

  Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) · 2007
  not yet assessed