Publications by authors named "Federico Zabalegui"

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Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies.
Sheila Lucia Castañeda, Guadalupe Amin, Maria Ines Freiberger, Federico Zabalegui, Sol Renes

J Med Genet· December 2025

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Generation of an iPSC line from congenital hypopituitarism patient with a nonsense heterozygous variant in FOXA2.
María Andrea Camilletti, Chirino Felker Gonzalo Tomás, Castañeda Sheila, Zabalegui Federico, Amin Guadalupe

Stem Cell Res· September 2025

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Derivation of two human induced pluripotent stem cell lines carrying a missense mutation in FHL1 (c.377G > A, p.C126Y) linked to familial muscular dystrophy.
Federico Zabalegui, Sheila Lucia Castañeda, Guadalupe Amin, Carolina Belli, Santiago Gabriel Miriuka

Stem Cell Res· March 2024

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Generation of two edited iPSCs lines by CRISPR/Cas9 with point mutations in PKP2 gene for arrhythmogenic cardiomyopathy in vitro modeling.
Guadalupe Amin, Sheila Lucía Castañeda, Federico Zabalegui, Carolina Belli, Catalina Atorrasagasti

Stem Cell Res· September 2023

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