Margherita Baldassarri

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Publications (83)

• A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death
  Scientific Reports 2024 DOI: 10.1038/s41598-024-53310-x
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• Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells (European Journal of Human Genetics, (2020), 28, 4, (480-490), 10.1038/s41431-019-0537-8)
  European Journal of Human Genetics 2024 DOI: 10.1038/s41431-023-01287-y
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• Correction: The 2019 and 2021 International workshops on Alport syndrome (European Journal of Human Genetics, (2022), 30, 5, (507-516), 10.1038/s41431-022-01075-0)
  European Journal of Human Genetics 2024 DOI: 10.1038/s41431-023-01286-z
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• HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19
  HLA 2024 DOI: 10.1111/tan.15251
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• Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features
  Frontiers in Genetics 2024 DOI: 10.3389/fgene.2024.1362469
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• Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response
  Communications Medicine 2024 DOI: 10.1038/s43856-024-00490-2
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• Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
  Cancers 2024 DOI: 10.3390/cancers16050953
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• CYP19A1 mediates severe SARS-CoV-2 disease outcome in males
  Cell Reports Medicine 2023 DOI: 10.1016/j.xcrm.2023.101152
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• Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males (Journal of Hematology & Oncology, (2021), 14, 1, (123), 10.1186/s13045-021-01136-9)
  Journal of Hematology and Oncology 2023 DOI: 10.1186/s13045-023-01415-7
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• Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients
  American Journal of Medical Genetics, Part A 2023 DOI: 10.1002/ajmg.a.62984
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• Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features
  bioRxiv 2023 DOI: 10.1101/2023.02.06.527291
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• Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review
  Genes 2023 DOI: 10.3390/genes14081633
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• Multiple genetic control of anti-COVID-19 vaccine response by HLA locus
  Research Square 2023 DOI: 10.21203/rs.3.rs-3121965
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• Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey
  Children 2023 DOI: 10.3390/children10091442
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• Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder
  Respiratory Research 2023 DOI: 10.1186/s12931-023-02458-7
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• A first update on mapping the human genetic architecture of COVID-19
  COVID-19 Host Genetics Initiative, COVID-19 Host Genetics Initiative, Leadership +97 more
  Nature 2022 DOI: 10.1038/s41586-022-04826-7
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• An explainable model of host genetic interactions linked to COVID-19 severity
  Communications Biology 2022 DOI: 10.1038/s42003-022-04073-6
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• Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19
  Viruses 2022 DOI: 10.3390/v14061185
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• Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
  Chiara Fallerini, Nicola Picchiotti, Margherita Baldassarri +97 more
  Human Genetics 2022 DOI: 10.1007/s00439-021-02397-7
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• Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes
  Cells 2022 DOI: 10.3390/cells11244096
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