Author

Jesus Marquez

Hospital Sant Joan de Déu BarcelonaORCID 0000-0002-4408-1418Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Abigail S. Krall· 1 shared Aileen A. NavaiD· 1 shared Alexander Stephen ByrneiD· 1 shared Amélie PitoniD· 1 shared Cristiane BenincáiD· 1 shared Didier LacombeiD· 1 shared Eduardo Fidel TizzanoiD· 1 shared Harold PimenteliD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abigail S. Krall

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 17, 2026

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes

Aileen A. Nava, Yaneth Perez-Rodriguez, Tzung‐Chien Hsieh…·Valerie A. Arboleda

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

DOI 10.64898/2026.08.11.26358095

humanbulk RNA-seq

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