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Montero-Conde C, Martín-Campos JM, Lerma E, et al. Molecular profiling related to poor prognosis in thyroid carcinoma. Combining gene expression data and biological information. Oncogene. 2008;27(11):1554-61. doi:10.1038/sj.onc.1210792.
Barragán I, Borrego S, Pieras JIgnacio, et al. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010;31(11):E1772-800. doi:10.1002/humu.21334.
Millán-Esteban D, Peña-Chilet M, García-Casado Z, et al. Mutational Characterization of Cutaneous Melanoma Supports Divergent Pathways Model for Melanoma Development. Cancers (Basel). 2021;13(20). doi:10.3390/cancers13205219.
Ibáñez M, Carbonell-Caballero J, García-Alonso L, et al. The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations. PLoS One. 2016;11(2):e0148346. doi:10.1371/journal.pone.0148346.
Ibáñez M, Carbonell-Caballero J, García-Alonso L, et al. The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations. PLoS One. 2016;11(2):e0148346. doi:10.1371/journal.pone.0148346.
Sevilla T, Lupo V, Martínez-Rubio D, et al. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain. 2016;139(Pt 1):62-72. doi:10.1093/brain/awv311.
Matalonga L, Bravo M, Serra-Peinado C, et al. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Hum Mutat. 2017;38(2):148-151. doi:10.1002/humu.23145.
N
Heath AP, Ferretti V, Agrawal S, et al. The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.
Heath AP, Ferretti V, Agrawal S, et al. The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.
Heath AP, Ferretti V, Agrawal S, et al. The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.
Heath AP, Ferretti V, Agrawal S, et al. The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.
Tenorio J, Mansilla A, Valencia M, et al. A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.
Tenorio J, Mansilla A, Valencia M, et al. A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.
López-Domingo FJ, Florido JP, Rueda A, Dopazo J, Santoyo-López J. ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing. Bioinformatics. 2014;30(12):1767-8. doi:10.1093/bioinformatics/btu108.
Martin-Broto J, Hindi N, Grignani G, et al. Nivolumab and sunitinib combination in advanced soft tissue sarcomas: a multicenter, single-arm, phase Ib/II trial. J Immunother Cancer. 2020;8(2). doi:10.1136/jitc-2020-001561.
Martin-Broto J, Hindi N, Grignani G, et al. Nivolumab and sunitinib combination in advanced soft tissue sarcomas: a multicenter, single-arm, phase Ib/II trial. J Immunother Cancer. 2020;8(2). doi:10.1136/jitc-2020-001561.
Martin-Broto J, Hindi N, Grignani G, et al. Nivolumab and sunitinib combination in advanced soft tissue sarcomas: a multicenter, single-arm, phase Ib/II trial. J Immunother Cancer. 2020;8(2). doi:10.1136/jitc-2020-001561.
Cascon A, Ruiz-Llorente S, Rodriguez-Perales S, et al. A novel candidate region linked to development of both pheochromocytoma and head/neck paraganglioma. Genes Chromosomes Cancer. 2005;42:260-8. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15609347.
Cruz R, de Almeida SDiz-, Heredia MLópez, et al. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Cruz R, de Almeida SDiz-, Heredia MLópez, et al. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Cruz R, de Almeida SDiz-, Heredia MLópez, et al. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Cruz R, de Almeida SDiz-, Heredia MLópez, et al. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Cruz R, de Almeida SDiz-, Heredia MLópez, et al. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Cruz R, de Almeida SDiz-, Heredia MLópez, et al. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Cruz R, de Almeida SDiz-, Heredia MLópez, et al. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.