Publications by authors named "Gerardo Carro"

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"Case report": Whole-exome sequencing reveals compound heterozygous variants in the gene in a familial case of vanishing white matter.
Sofía Savy, Francisco A Montes, Carola L Grosso, Laura E Laróvere, Silene M Silvera-Ruiz, Gerardo H Carro

Front Genet· November 2025

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UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression.
Ana Clara Venier, Sofía Savy, Gerardo Carro, Guillermo Guelbert, Ezequiel Grondona

Hum Mol Genet· June 2025

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Functional characterization of novel compound heterozygous missense gene variants causing congenital dyshormonogenic hypothyroidism.
Gerardo Hernán Carro, Mariano Martín, Sofía Savy, Victoria Peyret, Romina Celeste Geysels

Front Endocrinol (Lausanne)· January 2025

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Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.
Carlos Eduardo Bernal Barquero, Romina Celeste Geysels, Virginie Jacques, Gerardo Hernán Carro, Mariano Martín

Int J Mol Sci· August 2022

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