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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. Among authors: lazaro c. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome.
Bellido F, Guinó E, Jagmohan-Changur S, Seguí N, Pineda M, Navarro M, Lázaro C, Blanco I, Vasen HF, Moreno V, Capellá G, Wijnen JT, Valle L. Bellido F, et al. Among authors: lazaro c. Eur J Hum Genet. 2013 May;21(5):511-6. doi: 10.1038/ejhg.2012.204. Epub 2012 Sep 5. Eur J Hum Genet. 2013. PMID: 22948024 Free PMC article.
In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.
Castellanos E, Rosas I, Solanes A, Bielsa I, Lázaro C, Carrato C, Hostalot C, Prades P, Roca-Ribas F, Blanco I, Serra E; NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC. Castellanos E, et al. Among authors: lazaro c. Eur J Hum Genet. 2013 Jul;21(7):769-73. doi: 10.1038/ejhg.2012.261. Epub 2012 Nov 28. Eur J Hum Genet. 2013. PMID: 23188051 Free PMC article.
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
Feliubadaló L, Lopez-Doriga A, Castellsagué E, del Valle J, Menéndez M, Tornero E, Montes E, Cuesta R, Gómez C, Campos O, Pineda M, González S, Moreno V, Brunet J, Blanco I, Serra E, Capellá G, Lázaro C. Feliubadaló L, et al. Among authors: lazaro c. Eur J Hum Genet. 2013 Aug;21(8):864-70. doi: 10.1038/ejhg.2012.270. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249957 Free PMC article.
Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype.
Seguí N, Navarro M, Pineda M, Köger N, Bellido F, González S, Campos O, Iglesias S, Valdés-Mas R, López-Doriga A, Gut M, Blanco I, Lázaro C, Capellá G, Puente XS, Plotz G, Valle L. Seguí N, et al. Among authors: lazaro c. Gut. 2015 Feb;64(2):355-6. doi: 10.1136/gutjnl-2014-307084. Epub 2014 Apr 1. Gut. 2015. PMID: 24691292 No abstract available.
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.
Sáez MA, Fernández-Rodríguez J, Moutinho C, Sanchez-Mut JV, Gomez A, Vidal E, Petazzi P, Szczesna K, Lopez-Serra P, Lucariello M, Lorden P, Delgado-Morales R, de la Caridad OJ, Huertas D, Gelpí JL, Orozco M, López-Doriga A, Milà M, Perez-Jurado LA, Pineda M, Armstrong J, Lázaro C, Esteller M. Sáez MA, et al. Among authors: lazaro c. Genet Med. 2016 Apr;18(4):378-85. doi: 10.1038/gim.2015.100. Epub 2015 Jul 16. Genet Med. 2016. PMID: 26181491 Free PMC article.
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L, Tonda R, Gausachs M, Trotta JR, Castellanos E, López-Doriga A, Teulé À, Tornero E, Del Valle J, Gel B, Gut M, Pineda M, González S, Menéndez M, Navarro M, Capellá G, Gut I, Serra E, Brunet J, Beltran S, Lázaro C. Feliubadaló L, et al. Among authors: lazaro c. Sci Rep. 2017 Jan 4;7:37984. doi: 10.1038/srep37984. Sci Rep. 2017. PMID: 28050010 Free PMC article.
383 results