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Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.
Ferre-Fernández JJ, Aroca-Aguilar JD, Medina-Trillo C, Bonet-Fernández JM, Méndez-Hernández CD, Morales-Fernández L, Corton M, Cabañero-Valera MJ, Gut M, Tonda R, Ayuso C, Coca-Prados M, García-Feijoo J, Escribano J. Ferre-Fernández JJ, et al. Among authors: gut m. Sci Rep. 2017 Apr 11;7:46175. doi: 10.1038/srep46175. Sci Rep. 2017. PMID: 28397860 Free PMC article.
MetaTrans: an open-source pipeline for metatranscriptomics.
Martinez X, Pozuelo M, Pascal V, Campos D, Gut I, Gut M, Azpiroz F, Guarner F, Manichanh C. Martinez X, et al. Among authors: gut m, gut i. Sci Rep. 2016 May 23;6:26447. doi: 10.1038/srep26447. Sci Rep. 2016. PMID: 27211518 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: gut m, gut i. Sci Rep. 2017 Jan 4;7:37984. doi: 10.1038/srep37984. Sci Rep. 2017. PMID: 28050010 Free PMC article.
Pheno-seq - linking visual features and gene expression in 3D cell culture systems.
Tirier SM, Park J, Preußer F, Amrhein L, Gu Z, Steiger S, Mallm JP, Krieger T, Waschow M, Eismann B, Gut M, Gut IG, Rippe K, Schlesner M, Theis F, Fuchs C, Ball CR, Glimm H, Eils R, Conrad C. Tirier SM, et al. Among authors: gut m, gut ig. Sci Rep. 2019 Aug 26;9(1):12367. doi: 10.1038/s41598-019-48771-4. Sci Rep. 2019. PMID: 31451731 Free PMC article.
Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS.
Garcia-Reyero J, Martinez Magunacelaya N, Gonzalez de Villambrosia S, Gomez Mediavilla A, Urquieta Lam M, Insunza A, Tonda R, Beltran S, Gut M, Gonzalez A, Montes-Moreno S. Garcia-Reyero J, et al. Among authors: gut m. J Clin Pathol. 2020 Sep;73(9):571-577. doi: 10.1136/jclinpath-2019-206282. Epub 2020 Jan 24. J Clin Pathol. 2020. PMID: 31980558
Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma.
Garcia-Reyero J, Martinez Magunacelaya N, Gonzalez de Villambrosia S, Loghavi S, Gomez Mediavilla A, Tonda R, Beltran S, Gut M, Pereña Gonzalez A, d'Ámore E, Visco C, Khoury JD, Montes-Moreno S. Garcia-Reyero J, et al. Among authors: gut m. Haematologica. 2021 Apr 1;106(4):1120-1128. doi: 10.3324/haematol.2020.251579. Haematologica. 2021. PMID: 32273478 Free PMC article.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Mondragón Rezola E, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltrán S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A; GWMD working group. Schlüter A, et al. Among authors: gut m. Neurology. 2022 Mar 1;98(9):e912-e923. doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10. Neurology. 2022. PMID: 35012964 Free PMC article.
347 results