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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.
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.
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.
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.
Iatrogenic Intracranial Aneurysm After External Ventricular Drain Placement: Traumatic or Mycotic Origin? Case Report and Literature Review.
Pastor-Cabeza M, González-Crespo A, Tardáguila M, Blanco Ibañez de Opacua A, Remollo S, Domínguez CJ, Rimbau JM, Rodríguez-Hernández A. Pastor-Cabeza M, et al. Among authors: tardaguila m. World Neurosurg. 2020 Nov;143:214-218. doi: 10.1016/j.wneu.2020.07.179. Epub 2020 Aug 1. World Neurosurg. 2020. PMID: 32750512
tappAS: a comprehensive computational framework for the analysis of the functional impact of differential splicing.
de la Fuente L, Arzalluz-Luque Á, Tardáguila M, Del Risco H, Martí C, Tarazona S, Salguero P, Scott R, Lerma A, Alastrue-Agudo A, Bonilla P, Newman JRB, Kosugi S, McIntyre LM, Moreno-Manzano V, Conesa A. de la Fuente L, et al. Among authors: tardaguila m. Genome Biol. 2020 May 18;21(1):119. doi: 10.1186/s13059-020-02028-w. Genome Biol. 2020. PMID: 32423416 Free PMC article.
Growth prediction in asymptomatic meningiomas: the utility of the AIMSS score.
Brugada-Bellsolà F, Teixidor Rodríguez P, Rodríguez-Hernández A, Garcia-Armengol R, Tardáguila M, González-Crespo A, Domínguez CJ, Rimbau JM. Brugada-Bellsolà F, et al. Among authors: tardaguila m. Acta Neurochir (Wien). 2019 Nov;161(11):2233-2240. doi: 10.1007/s00701-019-04056-3. Epub 2019 Sep 6. Acta Neurochir (Wien). 2019. PMID: 31489530
23 results