Aurora Pujol

Gran Via 199
Barcelona, CT 08908, Spain

Last Updated: 09/26/2026

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Found 126 publications

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 05, 2026

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

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

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: March 16, 2026

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Journal: Epilepsia

Published: October 31, 2025

A comprehensive annotation of conserved protein domains in human endogenous retroviruses.

A comprehensive annotation of conserved protein domains in human endogenous retroviruses.

Journal: NAR genomics and bioinformatics

Published: October 09, 2025

Importance of tubulin detyrosination in platelet biogenesis.

Importance of tubulin detyrosination in platelet biogenesis.

Journal: Journal of thrombosis and haemostasis : JTH

Published: October 18, 2024

Novel risk loci for COVID-19 hospitalization among admixed American populations.

Novel risk loci for COVID-19 hospitalization among admixed American populations.

Journal: eLife

Published: October 03, 2024

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

Ulcerative Pathogens Among Suspected Monkeypox Virus (MPXV) Patients: A Cross Sectional Study.

Ulcerative Pathogens Among Suspected Monkeypox Virus (MPXV) Patients: A Cross Sectional Study.

Journal: Actas dermo-sifiliograficas

Published: September 17, 2024

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 31, 2024

OAS1 and OAS3 genetic variants enhance inflammatory responses to SARS-CoV-2.

OAS1 and OAS3 genetic variants enhance inflammatory responses to SARS-CoV-2.

Journal: iScience

Published: July 22, 2024

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.

Journal: The Journal of clinical investigation

Published: July 11, 2024

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Journal: Aging cell

Published: May 10, 2024

Showing 1-12 of 126

Last Updated: 09/26/2026