A decade of RAD51C and RAD51D germline variants in cancer
Boni, Jacopo, Idani, Aida, Roca, Carla, Feliubadaló, Lidia, Tomiak, Eva, Weber, Evan, Foulkes, William D., Orthwein, Alexandre, El Haffaf, Zaki, Lazaro, Conxi, Rivera, Barbara
Published in Human mutation (01.03.2022)
Published in Human mutation (01.03.2022)
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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
Munté, Elisabet, Feliubadaló, Lidia, Pineda, Marta, Tornero, Eva, Gonzalez, Maribel, Moreno-Cabrera, José Marcos, Roca, Carla, Bales Rubio, Joan, Arnaldo, Laura, Capellá, Gabriel, Mosquera, Jose Luis, Lázaro, Conxi
Published in Bioinformatics (Oxford, England) (01.03.2023)
Published in Bioinformatics (Oxford, England) (01.03.2023)
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DGCR8 and the six hit, three-step model of schwannomatosis
Nogué, Clara, Chong, Anne-Sophie, Grau, Elia, Han, HyeRim, Dorca, Eduard, Roca, Carla, Mosquera, Jose Luis, Lázaro, Conxi, Foulkes, William D., Brunet, Joan, Rivera, Barbara
Published in Acta neuropathologica (2022)
Published in Acta neuropathologica (2022)
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SMARCA4-associated schwannomatosis
Chan-Pak-Choon, Fiona, Roca, Carla, Chong, Anne-Sophie, Nogué, Clara, Dahlum, Sonja, Austin, Rachel, Mar Fan, Helen, van Spaendonck-Zwarts, Karin Y., Lambie, Neil K., Robertson, Thomas, Siebert, Reiner, Rivera, Barbara, Foulkes, William D.
Published in Acta neuropathologica (01.04.2023)
Published in Acta neuropathologica (01.04.2023)
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Abstract 1549: The tumorigenesis model in DGCR8 associated schwannomatosis
Nogué, Clara, Chong, Anne-Sophie, Grau, Elia, Han, HyeRim, Dorca, Eduard, Roca, Carla, Mosquera, Jose Luis, lazaro, Conxi, Foulkes, William D., Brunet, Joan, Polo, Bárbara Rivera
Published in Cancer research (Chicago, Ill.) (15.06.2022)
Published in Cancer research (Chicago, Ill.) (15.06.2022)
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Mitochondrial DNA Damage and Brain Aging in Human Immunodeficiency Virus
Roca-Bayerri, Carla, Robertson, Fiona, Pyle, Angela, Hudson, Gavin, Payne, Brendan A I
Published in Clinical infectious diseases (15.07.2021)
Published in Clinical infectious diseases (15.07.2021)
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Journal Article
DGCR8 and the six hit, three-step model of schwannomatosis
Nogué, Clara, Chong, Anne-Sophie, Grau, Elia, Han, HyeRim, Dorca, Eduard, Roca, Carla, Mosquera, Jose Luis, Lázaro, Conxi, Foulkes, William D, Brunet, Joan, Rivera, Barbara
Published in Acta neuropathologica (01.01.2022)
Published in Acta neuropathologica (01.01.2022)
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