Journal Articles

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Vila-Valls L.; Garcia-Calleja J.; Prado-Martinez J.; Bosch E.; Andres A.M.; Netea M.G.; Comas D.; Hassan H.Y.. Sudan's complex genetic admixture history drives adaptation to malaria in Sudanese Copts. Proceedings of the National Academy of Sciences of the United States of America 2026; 123(3): .

Derkx, Inez; Ceballos, Francisco; Biagini, Simone B; Subedi, S; Rajbhandari; Gyawali, A; Bosch, Elena; Vinicius, Lucio; Migliano, Andrea B; Bertranpetit, Jaume. The genetic demographic history of the last hunter-gatherer population of the Himalayas.. Scientific Reports 2025; 15: .

Garcia-Calleja J, Biagini SA, de Cid R, Calafell F, Bosch E. Inferring past demography and genetic adaptation in Spain using the GCAT cohort. Scientific Reports 2025; (15): .

Sinigaglia B, Escudero J, Biagini S, Garcia-Calleja J, Moreno J, Dobon B, Acosta S, Monadal M, Walsh S, Aguileta G, Valles M, Forrow S, Martin-Caballero J, Migliano A, Bertranpetit J, Muñoz F, Bosch E. Exploring adaptive phenotypes for the human calcium-sensing receptor polymorphism R990G. Molecular Biology and Evolution 2024; 41(2): .

Caro-Consuegra, Rocio; Lucas-Sanchez, Marcel; Comas, David; Bosch, Elena. Identifying signatures of positive selection in human populations from North Africa. Scientific Reports 2023; 13: .

Muntané G., Vázquez-Bourgon J., Sada E., Martorell L., Papiol S., Bosch E., Navarro A., Crespo-Facorro B., Vilella E.. Polygenic risk scores enhance prediction of body mass index increase in individuals with a first episode of psychosis. European Psychiatry 2023; : .

Roca-Umbert A.; Garcia-Calleja J.; Vogel-Gonzalez M.; Fierro-Villegas A.; Ill-Raga G.; Herrera-Fernandez V.; Bosnjak A.; Muntane G.; Gutierrez E.; Campelo F.; Vicente R.; Bosch E.. Human genetic adaptation related to cellular zinc homeostasis. PLOS Genetics 2023; 19(9): .

Caro-Consuegra R, Nieves-Colón MA, Rawls E, Rubin-de-Celis V, Lizárraga B, Vidaurre T, Sandoval K, Fejerman L, Stone AC, Moreno-Estrada A, Bosch E. Uncovering signals of positive selection in peruvian populations from three ecological regions. Molecular Biology and Evolution 2022; 39(8): .

Roca-Umbert A.; Caro-Consuegra R.; Londono-Correa D.; Rodriguez-Lozano G.F.; Vicente R.; Bosch E.. Understanding signatures of positive natural selection in human zinc transporter genes. Scientific Reports 2022; : .

Bosch, E. Les adaptacions que ens han fet humans. El genoma. Treballs de la Societat Catalana de Biologia 2021; 71: 68-75.

Casadó-Llombart S, Velasco-de Andrés M, Català C, Leyton-Pereira A, Lozano F, Bosch E. Contribution of evolutionary selected immune gene polymorphism to immune-related disorders: the case of lymphocyte scavenger receptors CD5 and CD6. International Journal of Molecular Sciences 2021; 22(10): .

Font-Porterias N, Caro-Consuegra R, Lucas-Sánchez M, Lopez M, Giménez A, Carballo-Mesa A, Bosch E, Calafell F, Quintana-Murci L, Comas D. The counteracting effects of demography on functional genomic variation: the Roma paradigm. Molecular Biology and Evolution 2021; 38(7): 2804-17.

Garcia-Ruiz B, de Moura MC, Muntané G, Martorell L, Bosch E, Esteller M, J Canales-Rodríguez E, Pomarol-Clotet E, Jiménez E, Vieta E, Vilella E. DDR1 methylation is associated with bipolar disorder and the isoform expression and methylation of myelin genes. Epigenomics 2021; 13(11): 845-58.

Muntané G, Farré X, Bosch E, Martorell L, Navarro A, Vilella E. The shared genetic architecture of schizophrenia, bipolar disorder and lifespan. Human Genetics 2021; 140(3): 441-55.

Dobon B.; ter Horst R.; Laayouni H.; Mondal M.; Bianco E.; Comas D.; Ioana M.; Bosch E.; Bertranpetit J.; Netea M.G.. The shaping of immunological responses through natural selection after the Roma Diaspora. Scientific Reports 2020; 10(1): .

Gil-Varea E, Fedetz M, Eixarch H, Spataro N, Villar LM, Urcelay E, Saiz A, Fernández O, Leyva L, Ramió-Torrentà Ll, Vandenbroeck K, Otaegui D, Castillo-Triviño T, Izquierdo G, Malhotra S, Bosch E, Navarro A, Alcina A, Montalban X, Matesanz F, Comabella, M. A New Risk Variant for Multiple Sclerosis at 11q23.3 Locus Is Associated with Expansion of CXCR5+ Circulating Regulatory T Cells.. Journal of Clinical Medicine 2020; 9(3): .

Gil-Varea E, Spataro N, Villar LM, Tejeda-Velarde A, Midaglia L, Matesanz F, Malhotra S, Eixarch H, Patsopoulos N, Fernández O, Oliver-Martos B, Saiz A, Llufriu S, Ramió-Torrentà L, Quintana E, Izquierdo G, Alcina A, Bosch E, Navarro A, Montalban X, Comabella M. Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes. Human Mutation 2020; 41(7): 1308-20.

Walsh S.; Izquierdo-Serra M.; Acosta S.; Edo A.; Lloret M.; Moret R.; Bosch E.; Oliva B.; Bertranpetit J.; Fernandez-Fernandez J.M.. Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population. Scientific Reports 2020; 10(1): .

Rodríguez JA, Farré X, Muntané G, Marigorta UM, Hughes DA, Spataro N, Bosch E, Navarro A. Reply to: Retesting the influences of mutation accumulation and antagonistic pleiotropy on human senescence and disease. Nature Ecology and Evolution 2019; 3(7): 994-995.

Urnikyte A, Flores-Bello A, Mondal M, Molyte A, Comas D, Calafell F, Bosch E, Kucinskas V. Patterns of genetic structure and adaptive positive selection in the Lithuanian population from high-density SNP data. Scientific Reports 2019; 9(1): .