Publications
Direct links to the publications generated by the project
Single-cell RNA-seq analysis and cell-cluster deconvolution of the human preovulatory follicular fluid cells provide insights into the pathophysiology of ovarian hyporesponse.
|21 Oct, 2023|Front Endocrinol (Lausanne)Newsletter Oct2023 - Tech watch and implementation
|13 Oct, 2023|Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
|2 Jun, 2023|Hum GenomicsA chromosome-level reference genome for the common octopus, Octopus vulgaris (Cuvier, 1797) - Preprint
|18 May, 2023|BioRxivChromatin insulation orchestrates matrix metalloproteinase gene cluster expression reprogramming in aggressive breast cancer tumors - Preprint
|8 May, 2023|Research SquareResidual Humidity in Paraffin-Embedded Tissue Reduces Nucleic Acid Stability
|28 Apr, 2023|Int. J. Mol. Sci.Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
|5 Apr, 2023|Genome Med.Human genetic and immunological determinants of SARS-CoV-2 and Epstein-Barr virus diseases in childhood: Insightful contrasts
|26 Mar, 2023|J Intern Med.Newsletter Jan2023 - Tech watch and implementation
|22 Feb, 2023|Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.
|10 Feb, 2023|ScienceHuman type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination.
|7 Nov, 2022|J Exp Med.Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
|3 Nov, 2022|PLoS Genet.Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
|3 Nov, 2022|PLoS GeneticsAutoantibodies against type I IFNs in patients with critical influenza pneumonia.
|16 Sep, 2022|J Exp Med.Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.
|12 Sep, 2022|J Exp Med.Equilibrated evolution of the mixed auto-/allopolyploid haplotype-resolved genome of the invasive hexaploid Prussian carp
|14 Jul, 2022|Nat Commun.Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
|7 Jun, 2022|J Exp Med.A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
|20 Apr, 2022|J Exp Med.Human autoantibodies underlying infectious diseases.
|23 Mar, 2022|J Exp Med.Human genetic and immunological determinants of critical COVID-19 pneumonia.
|28 Jan, 2022|NatureCommon, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
|10 Dec, 2021|Hum Genet.A growth factor-expressing macrophage subpopulation orchestrates regenerative inflammation via GDF-15.
|30 Nov, 2021|J Exp Med.Pre-existing Autoantibodies Neutralizing High Concentrations of Type I Interferons in Almost 10% of COVID-19 Patients Admitted to Intensive Care in Barcelona.
|27 Sep, 2021|J Clin Immunol.X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
|19 Aug, 2021|Sci Immunol.Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.
|19 Aug, 2021|Sci Immunol.SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
|7 Jun, 2021|J Exp Med.Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain.
|13 Apr, 2021|J Clin Immunol.Combining Nanopore and Illumina Sequencing Permits Detailed Analysis of Insertion Mutations and Structural Variations Produced by PEG-Mediated Transformation in Ostreococcus tauri.
|17 Mar, 2021|CellsCombining Nanopore and Illumina Sequencing Permits Detailed Analysis of Insertion Mutations and Structural Variations Produced by PEG-Mediated Transformation in Ostreococcus tauri
|17 Mar, 2021|CellsThe European Nucleotide Archive in 2020
|11 Nov, 2020|Nucleic Acids ResearchHybridization-based in situ sequencing (HybISS) for spatially resolved transcriptomics in human and mouse brain tissue
|4 Nov, 2020|Nucleic Acids ResearchInborn errors of type I IFN immunity in patients with life-threatening COVID-19
|23 Oct, 2020|SCIENCEAutoantibodies against type I IFNs in patients with life-threatening COVID-19.
|23 Oct, 2020|ScienceFramework for quality assessment of whole genome cancer sequences
|7 Oct, 2020|Nature CommunicationsInborn errors of type I IFN immunity in patients with life-threatening COVID-19.
|20 Sep, 2020|ScienceCase Report: Benign Infantile Seizures Temporally Associated With COVID-19.
|6 Aug, 2020|Front Pediatr.Seamless integration of image and molecular analysis for spatial transcriptomics workflows
|16 Jul, 2020|BMC GenomicsStage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies
|8 Feb, 2020|CancersTechnology watch and implementation
|1 Feb, 2020|EASI genomics newsletter Feb 2020WP5 technology watch and implementation
|1 Jan, 2020|EASI genomics newsletter Jan 2020The European Nucleotide Archive in 2019
|13 Nov, 2019|Nucleic Acids Research