Aurora Pujol

35PUBLICATIONS
571CO-AUTHORS
Genome structure and regulationMajor global burdens of diseasePredictive and prognostic markersEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases
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Publications (35)

|Nov 06, 2026
Genome-Wide Characterization of HERV-Derived RNA Regulatory Potential in the Human Transcriptome.

|Oct 28, 2026
Neonatal-onset developmental and epileptic encephalopathy: High genetic yield and long-term outcomes in a multicenter southern European cohort.

|Mar 16, 2026
Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2.

Michelle Møhlenberg, Sofie Eg Jørgensen, Renée Marije van der Sluis

|Feb 11, 2026
A comprehensive annotation of conserved protein domains in human endogenous retroviruses.

Tomàs Montserrat-Ayuso, Aurora Pujol, Anna Esteve-Codina

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Nov 22, 2024
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Evangelos Bellos, Dilys Santillo, Pierre Vantourout

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Frequent Collaborators

9 joint publications

Jean-Laurent Casanova

8 joint publications

Laurent Abel

7 joint publications

Paul Bastard

7 joint publications

Aurélie Cobat