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Evolutionary and functional impact of common polymorphic inversions in the human genome.
Giner-Delgado C, Villatoro S, Lerga-Jaso J, Gayà-Vidal M, Oliva M, Castellano D, Pantano L, Bitarello BD, Izquierdo D, Noguera I, Olalde I, Delprat A, Blancher A, Lalueza-Fox C, Esko T, O'Reilly PF, Andrés AM, Ferretti L, Puig M, Cáceres M. Giner-Delgado C, et al. Among authors: caceres m. Nat Commun. 2019 Sep 17;10(1):4222. doi: 10.1038/s41467-019-12173-x. Nat Commun. 2019. PMID: 31530810 Free PMC article.
A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.
González JR, Cáceres A, Esko T, Cuscó I, Puig M, Esnaola M, Reina J, Siroux V, Bouzigon E, Nadif R, Reinmaa E, Milani L, Bustamante M, Jarvis D, Antó JM, Sunyer J, Demenais F, Kogevinas M, Metspalu A, Cáceres M, Pérez-Jurado LA. González JR, et al. Among authors: caceres a, caceres m. Am J Hum Genet. 2014 Mar 6;94(3):361-72. doi: 10.1016/j.ajhg.2014.01.015. Epub 2014 Feb 20. Am J Hum Genet. 2014. PMID: 24560518 Free PMC article.
Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.
Aguado C, Gayà-Vidal M, Villatoro S, Oliva M, Izquierdo D, Giner-Delgado C, Montalvo V, García-González J, Martínez-Fundichely A, Capilla L, Ruiz-Herrera A, Estivill X, Puig M, Cáceres M. Aguado C, et al. Among authors: caceres m. PLoS Genet. 2014 Mar 20;10(3):e1004208. doi: 10.1371/journal.pgen.1004208. eCollection 2014 Mar. PLoS Genet. 2014. PMID: 24651690 Free PMC article.
Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.
Vicente-Salvador D, Puig M, Gayà-Vidal M, Pacheco S, Giner-Delgado C, Noguera I, Izquierdo D, Martínez-Fundichely A, Ruiz-Herrera A, Estivill X, Aguado C, Lucas-Lledó JI, Cáceres M. Vicente-Salvador D, et al. Among authors: caceres m. Hum Mol Genet. 2017 Feb 1;26(3):567-581. doi: 10.1093/hmg/ddw415. Hum Mol Genet. 2017. PMID: 28025331
Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution.
Maggiolini FAM, Sanders AD, Shew CJ, Sulovari A, Mao Y, Puig M, Catacchio CR, Dellino M, Palmisano D, Mercuri L, Bitonto M, Porubský D, Cáceres M, Eichler EE, Ventura M, Dennis MY, Korbel JO, Antonacci F. Maggiolini FAM, et al. Among authors: caceres m. Genome Res. 2020 Nov;30(11):1680-1693. doi: 10.1101/gr.265322.120. Epub 2020 Oct 22. Genome Res. 2020. PMID: 33093070 Free PMC article.
440 results