Author

Mario Rodríguez-Martín

Universidad de SalamancaORCID 0000-0002-3519-0516Unclaimed 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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Organism:human· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Jesús LacaliD· 1 shared Kenza CherietiD· 1 shared María Isidoro‐GarcíaiD· 1 shared Pablo Prieto‐MatosiD· 1 shared Sandrine AdibaiD· 1 shared Vanessa RibesiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Jesús LacalORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 13, 2026

An integrated computational, clinical, and functional framework for assessing PTPN11 (SHP2) variant effects on ERK signaling and neural crest cell behavior in Noonan spectrum disorders

Mario Rodríguez-Martín, Kenza Cheriet, Sandrine Adiba…·Pablo Prieto‐Matos

The paper assesses PTPN11 variant effects on ERK signaling and neural crest cell behavior in Noonan spectrum disorders through clinical, biochemical, and in vivo analyses.

DOI 10.64898/2026.07.09.26357683

humanproteomics

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