Selected publications:

J. Valls-Margarit, I. Galván-Femenía, D. Matias, N. Blay, M. Puiggròs, A. Carreras, C. Salvoro, B. Cortés, R. Amela, X. Farre, J. Lerga-Jaso, M. Puig, J. F. Sánchez-Herrero, V. Moreno, M. Perucho, L. Sumoy, Ll. Armengol, O. Delaneau, M. Cáceres, R. de Cid, D. Torrents. GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing. BioRxiv (2021).

F. Degenhardt*, D. Ellinghaus*, S. Juzenas*, J. Lerga-Jaso*, M. Wendorff*, D. Maya-Miles*,… (+ 284 authors)… T. L Lenz*, R. Asselta*, R. de Cid*, L. Valenti*, M. Cáceres*, and A. Franke*. New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations. MedRxiv (2021).

COVID-19 Host Genetics Initiative. Mapping the human genetic architecture of COVID-19 by worldwide meta-analysis. Nature (2021).

F. A. M. Maggiolini, A. D. Sanders, C. J. Shew, A. Sulovari, Y. Mao, M. Puig, C. R. Catacchio, M. Dellino, D. Palmisano, L. Mercuri, M. Bitonto, D. Porubský, M. Cáceres, E. E. Eichler, M. Ventura, M. Y. Dennis, J. O. Korbel, and F. Antonacci. Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution. Genome Research 30: 1680-1693 (2020).

M. Puig, J. Lerga-Jaso, C. Giner-Delgado, S. Pacheco, D. Izquierdo, A. Delprat, J. F. Regan, G. Karlin-Neumann, and M. Cáceres. Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR. Genome Research 30: 724-735 (2020).

C. Giner-Delgado*, S. Villatoro*, J. Lerga-Jaso*, M. Gayà-Vidal, M. Oliva, D. Castellano, L. Pantano, B. Bitarello, D. Izquierdo, I. Noguera, I. Olalde, A. Delprat, A. Blancher, C. Lalueza-Fox, T. Esko, P. O’Reilly, A. Andrés, L. Ferretti, M. Puig, and M. Cáceres. Evolutionary and functional impact of common polymorphic inversions in the human genome. Nature Communications 10: 4222 (2019).

D. Vicente-Salvador*, M. Puig*, M. Gayà-Vidal, S. Pacheco, C. Giner-Delgado, I. Noguera, D. Izquierdo, A. Martínez-Fundichely, A. Ruiz-Herrera, X. Estivill, C. Aguado, J. I. Lucas-Lledó, and M. Cáceres. Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution. Human Molecular Genetics 26: 567-581 (2017).

M. Puig, D. Castellano, L. Pantano, C. Giner-Delgado, D. Izquierdo, M. Gayà-Vidal, J. I. Lucas-Lledó, T. Esko, C. Terao, F. Matsuda, and M. Cáceres. Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript. PLoS Genetics 11(10): e1005495. doi:10.1371/journal.pgen.1005495 (2015).

M. Cáceres. Structural variants, much ado about nothing? Briefings in Functional Genomics 14: 303-304 (2015).

M. Puig, S. Casillas, S. Villatoro, and M. Cáceres. Human inversions and their functional consequences. Briefings in Functional Genomics 14: 369-379 (2015).

J. I. Lucas-Lledó, D. Vicente-Salvador, C. Aguado, and M. Cáceres. Population genetic analysis of bi-allelic structural variants from low-coverage sequence data with an expectation-maximization algorithm. BMC Bioinformatics 15: 163 (2014).

C. Aguado, M. Gayà-Vidal, S. Villatoro, M. Oliva, D. Izquierdo, C. Giner-Delgado, V. Montalvo, J. García-González, A. Martínez-Fundichely, L. Capilla, A. Ruiz-Herrera, X. Estivill, M. Puig, and M. Cáceres. Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence. PLoS Genetics 10(3): e1004208. doi:10.1371/journal.pgen.1004208 (2014).

J. R. González, A. Cáceres, T. Esko, I. Cusco, M. Puig, M. Esnaola, V. Siroux, E. Bouzigon, R. Nadif, E. Reinmaa, L. Milani, M. Bustamante, D. Jarvis, J. M. Antó, J. Sunyer, F. Demenais, M. Kogevinas, A. Metspalu, M. Cáceres, and L. A. Pérez-Jurado. A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity. American Journal of Human Genetics 94: 361-372 (2014).

A. Martínez-Fundichely, S. Casillas, R. Egea, M. Ràmia, A. Barbadilla, L. Pantano, M. Puig, and M. Cáceres. InvFEST, a database integrating information of polymorphic inversions in the human genome. Nucleic Acids Research 42 (D1): D1027-D1032 (2014).

J. I. Lucas-Lledó and M. Cáceres. On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing. PLoS One 8: e61292, doi:10.1371/journal.pone.0061292 (2013).

R. Cagliani, F. Guerini, R. Rubio-Acero, F. Baglio, D. Forni, C. Agliardi, L. Griffanti, M. Fumagalli, U. Pozzoli, S. Riva, E. Calabrese, M. Sikora, F. Casals, G. P. Comi, N. Bresolin, M. Cáceres, M. Clerici, and M. Sironi. Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and grey matter volumes in Alzheimer's disease. Human Mutation 34: 743-753 (2013).

A. Cáceres, S. S. Sindi, B. J. Raphael, M. Cáceres, and J. R. González. Identification of polymorphic inversions from genotypes. BMC Bioinformatics 13: 28 (2012). 
R. Cagliani, S. Riva, C. Marino, M. Fumagalli, M. G. D’Angelo, V. Riva, G. P. Comi, U. Pozzoli, D. Forni, M. Cáceres, N. Bresolin, M. Clerici, and M. Sironi. Variants in SNAP25 are targets of natural selection and influence verbal performances in women. Cellular and Molecular Life Sciences DOI: 10.1007/s00018-011-0896-y (2011). 
Ll. Armengol, S. Villatoro, J. R. González, L. Pantano, M. García-Aragonés, R. Rabionet, M. Cáceres, and X. Estivill. Identification of copy number variants that define genomic differences among major human ethnic groups. PLoS One 4: e7230, 1-13 (2009). 
J. W. Thomas, M. Cáceres, J. J. Lowman, C. B. Morehouse, M. E. Short, E. L. Baldwin, D. L. Maney, and C. L. Martin. The chromosomal polymorphism linked to variation in social behavior in the white-throated sparrow (Zonotrichia albicollis) is a complex rearrangement and suppressor of recombination. Genetics 179: 1455-1468 (2008). 
M. Cáceres, NISC Comparative Sequencing Program, R. T. Sullivan, and J. W. Thomas. A recurrent inversion on the eutherian X-chromosome. Proceedings of the National Academy of Sciences U.S.A. 104: 18571-18576 (2007). 
J. A. Calarco*, Y. Xing*, M. Cáceres*, J. P. Calarco, X. Xiao, Q. Pan, C. Lee, T. M. Preuss, and B. J. Blencowe. Global analysis of alternative splicing differences between humans and chimpanzees. Genes and Development 21: 2963-2975 (2007). 
Bosch, N., M. Cáceres, M. F. Cardone, A. Carreras, E. Ballana, M. Rocchi, Ll. Armengol, and X. Estivill. Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events. Human Molecular Genetics 16: 2572-2582 (2007). 
M. Cáceres, M. Maddox, C. Suwyn, J. W. Thomas, and T. M. Preuss. Increased cortical expression of two synaptogenic thrombospondins in human brain evolution. Cerebral Cortex 17: 2312-2321 (2007). 
T. M. Preuss*, M. Cáceres*, M. C. Oldham, and D. H. Geschwind. Human brain evolution: Insights from microarrays. Nature Reviews Genetics 5: 850-860 (2004). 
T. Marques-Bonet, M. Cáceres, J. Bertranpetit, T. M. Preuss, J. W. Thomas and A. Navarro. Chromosomal rearrangements and the genomic distribution of gene-expression divergence in humans and chimpanzees. Trends in Genetics 20: 524-529 (2004). 
M. Puig, M. Cáceres and A. Ruiz. Silencing of a gene adjacent to the breakpoint of a widespread Drosophila inversion by a transposon-induced antisense RNA. Proceedings of the National Academy of Sciences U.S.A. 101: 9013-9018 (2004). 
M. Cáceres, J. Lachuer, M. A. Zapala, J. C. Redmond, L. Kudo, D. H. Geschwind, D. J. Lockhart, T. M. Preuss and C. Barlow. Elevated gene expression levels distinguish human from non-human primate brains. Proceedings of the National Academy of Sciences U.S.A. 100: 13030-13035 (2003). 
F. Casals, M. Cáceres, and A. Ruiz. The Foldback-like transposon Galileo is involved in the generation of two different natural chromosomal inversions of Drosophila buzzatii. Molecular Biology and Evolution 20: 674-685 (2003). 
M. Cáceres, M. Puig, and A. Ruiz. Molecular characterization of two natural hotspots in the Drosophila buzzatii genome induced by transposon insertions. Genome Research 11: 1353-1364 (2001). 
M. Cáceres, J. M. Ranz, A. Barbadilla, M. Long, and A. Ruiz. Generation of a widespread Drosophila inversion by a transposable element. Science 285: 415-418 (1999). 
M. Cáceres, A. Barbadilla, and A. Ruiz. Recombination rate predicts inversion size in Diptera. Genetics 153: 251-259 (1999). 
* Equally contributing authors

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