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Page 1
GA4GH Phenopackets: A Practical Introduction.
Ladewig MS, Jacobsen JOB, Wagner AH, Danis D, El Kassaby B, Gargano M, Groza T, Baudis M, Steinhaus R, Seelow D, Bechrakis NE, Mungall CJ, Schofield PN, Elemento O, Smith L, McMurry JA, Munoz-Torres M, Haendel MA, Robinson PN. Ladewig MS, et al. Adv Genet (Hoboken). 2022 Aug 25;4(1):2200016. doi: 10.1002/ggn2.202200016. eCollection 2023 Mar. Adv Genet (Hoboken). 2022. PMID: 36910590 Free PMC article.
The Ontology of Biological Attributes (OBA)-computational traits for the life sciences.
Stefancsik R, Balhoff JP, Balk MA, Ball RL, Bello SM, Caron AR, Chesler EJ, de Souza V, Gehrke S, Haendel M, Harris LW, Harris NL, Ibrahim A, Koehler S, Matentzoglu N, McMurry JA, Mungall CJ, Munoz-Torres MC, Putman T, Robinson P, Smedley D, Sollis E, Thessen AE, Vasilevsky N, Walton DO, Osumi-Sutherland D. Stefancsik R, et al. Mamm Genome. 2023 Sep;34(3):364-378. doi: 10.1007/s00335-023-09992-1. Epub 2023 Apr 19. Mamm Genome. 2023. PMID: 37076585 Free PMC article.
Phenopacket-tools: Building and validating GA4GH Phenopackets.
Danis D, Jacobsen JOB, Wagner AH, Groza T, Beckwith MA, Rekerle L, Carmody LC, Reese J, Hegde H, Ladewig MS, Seitz B, Munoz-Torres M, Harris NL, Rambla J, Baudis M, Mungall CJ, Haendel MA, Robinson PN. Danis D, et al. PLoS One. 2023 May 17;18(5):e0285433. doi: 10.1371/journal.pone.0285433. eCollection 2023. PLoS One. 2023. PMID: 37196000 Free PMC article.
KG-Hub-building and exchanging biological knowledge graphs.
Caufield JH, Putman T, Schaper K, Unni DR, Hegde H, Callahan TJ, Cappelletti L, Moxon SAT, Ravanmehr V, Carbon S, Chan LE, Cortes K, Shefchek KA, Elsarboukh G, Balhoff J, Fontana T, Matentzoglu N, Bruskiewich RM, Thessen AE, Harris NL, Munoz-Torres MC, Haendel MA, Robinson PN, Joachimiak MP, Mungall CJ, Reese JT. Caufield JH, et al. Bioinformatics. 2023 Jul 1;39(7):btad418. doi: 10.1093/bioinformatics/btad418. Bioinformatics. 2023. PMID: 37389415 Free PMC article.
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.
Carmody LC, Gargano MA, Toro S, Vasilevsky NA, Adam MP, Blau H, Chan LE, Gomez-Andres D, Horvath R, Kraus ML, Ladewig MS, Lewis-Smith D, Lochmüller H, Matentzoglu NA, Munoz-Torres MC, Schuetz C, Seitz B, Similuk MN, Sparks TN, Strauss T, Swietlik EM, Thompson R, Zhang XA, Mungall CJ, Haendel MA, Robinson PN. Carmody LC, et al. Among authors: munoz torres mc. Med. 2023 Dec 8;4(12):913-927.e3. doi: 10.1016/j.medj.2023.10.003. Epub 2023 Nov 13. Med. 2023. PMID: 37963467 Free article.
BOSC 2023, the 24th annual Bioinformatics Open Source Conference.
Harris NL, Fields CJ, Hokamp K, Just J, Khetani R, Maia J, Ménager H, Munoz-Torres MC, Unni D, Williams J. Harris NL, et al. Among authors: munoz torres mc. F1000Res. 2023 Dec 7;12:1568. doi: 10.12688/f1000research.143015.1. eCollection 2023. F1000Res. 2023. PMID: 38076297 Free PMC article.
Non-Classical Effects of FGF23: Molecular and Clinical Features.
Martínez-Heredia L, Canelo-Moreno JM, García-Fontana B, Muñoz-Torres M. Martínez-Heredia L, et al. Among authors: munoz torres m. Int J Mol Sci. 2024 Apr 30;25(9):4875. doi: 10.3390/ijms25094875. Int J Mol Sci. 2024. PMID: 38732094 Free PMC article. Review.
Combination Treatment with Verinurad and Allopurinol in CKD: A Randomized Placebo and Active Controlled Trial.
Heerspink HJL, Stack AG, Terkeltaub R, Jongs N, Inker LA, Bjursell M, Maklad N, Perl S, Eklund O, Rikte T, Sjöström CD, Perkovic V; SAPPHIRE Investigators. Heerspink HJL, et al. J Am Soc Nephrol. 2024 May 1;35(5):594-606. doi: 10.1681/ASN.0000000000000326. Epub 2024 Feb 20. J Am Soc Nephrol. 2024. PMID: 38564654 Clinical Trial. No abstract available.
Time-restricted eating and supervised exercise for improving hepatic steatosis and cardiometabolic health in adults with obesity: protocol for the TEMPUS randomised controlled trial.
Camacho-Cardenosa A, Clavero-Jimeno A, Martin-Olmedo JJ, Amaro-Gahete F, Cupeiro R, Cejudo MTG, García Pérez PV, Hernández-Martínez C, Sevilla-Lorente R, De-la-O A, López-Vázquez A, Molina-Fernandez M, Carneiro-Barrera A, Garcia F, Rodríguez-Nogales A, Gálvez Peralta JJ, Cabeza R, Martín-Rodríguez JL, Muñoz-Garach A, Muñoz-Torres M, Labayen I, Ruiz JR. Camacho-Cardenosa A, et al. Among authors: munoz torres m. BMJ Open. 2024 Jan 24;14(1):e078472. doi: 10.1136/bmjopen-2023-078472. BMJ Open. 2024. PMID: 38267239 Free PMC article.
Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.
Martínez-Heredia L, Muñoz-Torres M, Sanabria-de la Torre R, Jiménez-Ortas Á, Andújar-Vera F, González-Cejudo T, Contreras-Bolívar V, González-Salvatierra S, Gómez-Vida JM, García-Fontana C, García-Fontana B. Martínez-Heredia L, et al. Among authors: munoz torres m. Front Endocrinol (Lausanne). 2024 Jan 3;14:1320516. doi: 10.3389/fendo.2023.1320516. eCollection 2023. Front Endocrinol (Lausanne). 2024. PMID: 38234425 Free PMC article.
283 results