Paulino Gómez-Puertas

22PUBLICATIONS
110CO-AUTHORS
Gene and molecular therapyCraniofacial biologyCardiology (incl. cardiovascular diseases)Metabolic medicineEpigenetics (incl. genome methylation and epigenomics)
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Publications (22)

|Mar 02, 2026
Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.

Maddalena Di Nardo, Francesca Sardina, Maria M Pallotta

|Oct 29, 2025
ROGDI-Related Disorder Resulting from Disruption of Complex Interactive Neuro-Dental Developmental Networks: A Review and Description of the First Missense Variant.

Sopio Gverdtsiteli, Trine Bjørg Hammer, Xenia Hermann

|Oct 14, 2025
HCN4 Mutation Causing Familial Inappropriate Sinus Tachycardia Leads to a Conformational Change Mimicking cAMP Binding and Induces Constitutive Channel Activity.

Sara L Bober, Qiuju Li, David Ros-Pardo

|Sep 13, 2025
Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency.

María Arnedo, David Ros-Pardo, Beatriz Puisac

|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Mathis Hildonen, Andrea Ciolfi, Marco Ferilli

|Oct 16, 2024
In Silico Design of miniACE2 Decoys with In Vitro Enhanced Neutralization Activity against SARS-CoV-2, Encompassing Omicron Subvariants.

Jenny Andrea Arévalo-Romero, Gina López-Cantillo, Sara Moreno-Jiménez

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Frequent Collaborators

14 joint publications

Iñigo Marcos-Alcalde

5 joint publications

Pedro A Lazo

5 joint publications

Zeynep Tümer

4 joint publications

Juan Pié