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Page 1
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, Chen MH, Raffield LM, Tardaguila M, Huffman JE, Ritchie SC, Megy K, Ponstingl H, Penkett CJ, Albers PK, Wigdor EM, Sakaue S, Moscati A, Manansala R, Lo KS, Qian H, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala KN, Wilson PWF, Choquet H, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Felix SB, Floyd JS, Broer L, Grarup N, Guo MH, Guo Q, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nikus K, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Ghanbari M, Völker U, Völzke H, Watkins NA, Weiss S; VA Million Veteran Program; Cai N, Kundu K, Watt SB, Walter K, Zonderman AB, Cho K, Li Y, Loos RJF, Knight JC, Georges M, Stegle O, Evangelou E, Okada Y, Roberts DJ, Inouye M, Johnson AD, Auer PL, Astle … See abstract for full author list ➔ Vuckovic D, et al. Among authors: tardaguila m. Cell. 2020 Sep 3;182(5):1214-1231.e11. doi: 10.1016/j.cell.2020.08.008. Cell. 2020. PMID: 32888494 Free PMC article.
The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes.
Tokolyi A, Persyn E, Nath AP, Burnham KL, Marten J, Vanderstichele T, Tardaguila M, Stacey D, Farr B, Iyer V, Jiang X, Lambert SA, Noell G, Quail MA, Rajan D, Ritchie SC, Sun BB, Thurston SAJ, Xu Y, Whelan CD, Runz H, Petrovski S, Gaffney DJ, Roberts DJ, Di Angelantonio E, Peters JE, Soranzo N, Danesh J, Butterworth AS, Inouye M, Davenport EE, Paul DS. Tokolyi A, et al. Among authors: tardaguila m. Nat Genet. 2025 Mar;57(3):616-625. doi: 10.1038/s41588-025-02096-3. Epub 2025 Mar 4. Nat Genet. 2025. PMID: 40038547 Free PMC article.
16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.
Lasa-Aranzasti A, Cazurro-Gutiérrez A, Bescós A, González V, Ispierto L, Tardáguila M, Valenzuela I, Plaja A, Moreno-Galdó A, Macaya-Ruiz A, Pérez-Dueñas B. Lasa-Aranzasti A, et al. Among authors: tardaguila m. Parkinsonism Relat Disord. 2022 Oct;103:112-114. doi: 10.1016/j.parkreldis.2022.08.032. Epub 2022 Sep 7. Parkinsonism Relat Disord. 2022. PMID: 36096018 No abstract available.
Misexpression of inactive genes in whole blood is associated with nearby rare structural variants.
Vanderstichele T, Burnham KL, de Klein N, Tardaguila M, Howell B, Walter K, Kundu K, Koeppel J, Lee W, Tokolyi A, Persyn E, Nath AP, Marten J, Petrovski S, Roberts DJ, Di Angelantonio E, Danesh J, Berton A, Platt A, Butterworth AS, Soranzo N, Parts L, Inouye M, Paul DS, Davenport EE. Vanderstichele T, et al. Among authors: tardaguila m. Am J Hum Genet. 2024 Aug 8;111(8):1524-1543. doi: 10.1016/j.ajhg.2024.06.017. Epub 2024 Jul 24. Am J Hum Genet. 2024. PMID: 39053458 Free PMC article.
Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits.
Rowland B, Venkatesh S, Tardaguila M, Wen J, Rosen JD, Tapia AL, Sun Q, Graff M, Vuckovic D, Lettre G, Sankaran VG, Voloudakis G, Roussos P, Huffman JE, Reiner AP, Soranzo N, Raffield LM, Li Y. Rowland B, et al. Among authors: tardaguila m. Hum Mol Genet. 2022 Jul 21;31(14):2333-2347. doi: 10.1093/hmg/ddac011. Hum Mol Genet. 2022. PMID: 35138379 Free PMC article.
Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease.
Watt S, Vasquez L, Walter K, Mann AL, Kundu K, Chen L, Sims Y, Ecker S, Burden F, Farrow S, Farr B, Iotchkova V, Elding H, Mead D, Tardaguila M, Ponstingl H, Richardson D, Datta A, Flicek P, Clarke L, Downes K, Pastinen T, Fraser P, Frontini M, Javierre BM, Spivakov M, Soranzo N. Watt S, et al. Among authors: tardaguila m. Nat Commun. 2021 Apr 16;12(1):2298. doi: 10.1038/s41467-021-22548-8. Nat Commun. 2021. PMID: 33863903 Free PMC article.
SOD3 improves the tumor response to chemotherapy by stabilizing endothelial HIF-2α.
Mira E, Carmona-Rodríguez L, Pérez-Villamil B, Casas J, Fernández-Aceñero MJ, Martínez-Rey D, Martín-González P, Heras-Murillo I, Paz-Cabezas M, Tardáguila M, Oury TD, Martín-Puig S, Lacalle RA, Fabriás G, Díaz-Rubio E, Mañes S. Mira E, et al. Among authors: tardaguila m. Nat Commun. 2018 Feb 8;9(1):575. doi: 10.1038/s41467-018-03079-1. Nat Commun. 2018. PMID: 29422508 Free PMC article.
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology.
Marongiu M, Pérez-Mejías G, Orrù V, Steri M, Sidore C, Díaz-Quintana A, Mulas A, Busonero F, Maschio A, Walter K, Tardaguila M, Akbari P, Soranzo N, Fiorillo E, Gorospe M, Schlessinger D, Díaz-Moreno I, Cucca F, Zoledziewska M. Marongiu M, et al. Among authors: tardaguila m. Hum Mol Genet. 2023 Feb 19;32(5):790-797. doi: 10.1093/hmg/ddac238. Hum Mol Genet. 2023. PMID: 36136759 Free PMC article.
26 results