Publications by authors named "Carla Roca"

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Concurrence of FGFR1 mutations modulates oncogenesis in glioneuronal tumors.
Jacopo Boni, Míriam Fernández-González, HyeRim Han, Carla Roca, Cassandra J Wong

EMBO J· December 2025

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Detection of germline CNVs from gene panel data: benchmarking the state of the art.
Elisabet Munté, Carla Roca, Jesús Del Valle, Lidia Feliubadaló, Marta Pineda

Brief Bioinform· November 2024

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SMARCA4-associated schwannomatosis.
Fiona Chan-Pak-Choon, Carla Roca, Anne-Sophie Chong, Clara Nogué, Sonja Dahlum

Acta Neuropathol· April 2023

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vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Elisabet Munté, Lidia Feliubadaló, Marta Pineda, Eva Tornero, Maribel Gonzalez, Carla Roca

Bioinformatics· March 2023

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A decade of RAD51C and RAD51D germline variants in cancer.
Jacopo Boni, Aida Idani, Carla Roca, Lidia Feliubadaló, Eva Tomiak

Hum Mutat· March 2022

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DGCR8 and the six hit, three-step model of schwannomatosis.
Clara Nogué, Anne-Sophie Chong, Elia Grau, HyeRim Han, Eduard Dorca, Carla Roca

Acta Neuropathol· January 2022

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