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27 results

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Page 1
Investigating the genetic architecture of eye colour in a Canadian cohort.
Lona-Durazo F, Thakur R, Pairo-Castineira E, Funderburk K, Zhang T, Kovacs MA, Choi J, Jackson IJ, Brown KM, Parra EJ. Lona-Durazo F, et al. Among authors: pairo castineira e. iScience. 2022 May 30;25(6):104485. doi: 10.1016/j.isci.2022.104485. eCollection 2022 Jun 17. iScience. 2022. PMID: 35712076 Free PMC article.
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.
Grosche S, Marenholz I, Esparza-Gordillo J, Arnau-Soler A, Pairo-Castineira E, Rüschendorf F, Ahluwalia TS, Almqvist C, Arnold A; Australian Asthma Genetics Consortium (AAGC); Baurecht H, Bisgaard H, Bønnelykke K, Brown SJ, Bustamante M, Curtin JA, Custovic A, Dharmage SC, Esplugues A, Falchi M, Fernandez-Orth D, Ferreira MAR, Franke A, Gerdes S, Gieger C, Hakonarson H, Holt PG, Homuth G, Hubner N, Hysi PG, Jarvelin MR, Karlsson R, Koppelman GH, Lau S, Lutz M, Magnusson PKE, Marks GB, Müller-Nurasyid M, Nöthen MM, Paternoster L, Pennell CE, Peters A, Rawlik K, Robertson CF, Rodriguez E, Sebert S, Simpson A, Sleiman PMA, Standl M, Stölzl D, Strauch K, Szwajda A, Tenesa A, Thompson PJ, Ullemar V, Visconti A, Vonk JM, Wang CA, Weidinger S, Wielscher M, Worth CL, Xu CJ, Lee YA. Grosche S, et al. Nat Commun. 2021 Nov 16;12(1):6618. doi: 10.1038/s41467-021-26783-x. Nat Commun. 2021. PMID: 34785669 Free PMC article.
Genetic Landscape of the ACE2 Coronavirus Receptor.
Yang Z, Macdonald-Dunlop E, Chen J, Zhai R, Li T, Richmond A, Klarić L, Pirastu N, Ning Z, Zheng C, Wang Y, Huang T, He Y, Guo H, Ying K, Gustafsson S, Prins B, Ramisch A, Dermitzakis ET, Png G, Eriksson N, Haessler J, Hu X, Zanetti D, Boutin T, Hwang SJ, Wheeler E, Pietzner M, Raffield LM, Kalnapenkis A, Peters JE, Viñuela A, Gilly A, Elmståhl S, Dedoussis G, Petrie JR, Polašek O, Folkersen L, Chen Y, Yao C, Võsa U, Pairo-Castineira E, Clohisey S, Bretherick AD, Rawlik K; GenOMICC Consortium†; IMI-DIRECT Consortium†; Esko T, Enroth S, Johansson Å, Gyllensten U, Langenberg C, Levy D, Hayward C, Assimes TL, Kooperberg C, Manichaikul AW, Siegbahn A, Wallentin L, Lind L, Zeggini E, Schwenk JM, Butterworth AS, Michaëlsson K, Pawitan Y, Joshi PK, Baillie JK, Mälarstig A, Reiner AP, Wilson JF, Shen X. Yang Z, et al. Among authors: pairo castineira e. Circulation. 2022 May 3;145(18):1398-1411. doi: 10.1161/CIRCULATIONAHA.121.057888. Epub 2022 Apr 7. Circulation. 2022. PMID: 35387486 Free PMC article.
Fine-mapping of retinal vascular complexity loci identifies Notch regulation as a shared mechanism with myocardial infarction outcomes.
Villaplana-Velasco A, Pigeyre M, Engelmann J, Rawlik K, Canela-Xandri O, Tochel C, Lona-Durazo F, Mookiah MRK, Doney A, Parra EJ, Trucco E, MacGillivray T, Rannikmae K, Tenesa A, Pairo-Castineira E, Bernabeu MO. Villaplana-Velasco A, et al. Among authors: pairo castineira e. Commun Biol. 2023 May 15;6(1):523. doi: 10.1038/s42003-023-04836-9. Commun Biol. 2023. PMID: 37188768 Free PMC article.
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.
Kosmicki JA, Horowitz JE, Banerjee N, Lanche R, Marcketta A, Maxwell E, Bai X, Sun D, Backman JD, Sharma D, Kury FSP, Kang HM, O'Dushlaine C, Yadav A, Mansfield AJ, Li AH, Watanabe K, Gurski L, McCarthy SE, Locke AE, Khalid S, O'Keeffe S, Mbatchou J, Chazara O, Huang Y, Kvikstad E, O'Neill A, Nioi P, Parker MM, Petrovski S, Runz H, Szustakowski JD, Wang Q, Wong E, Cordova-Palomera A, Smith EN, Szalma S, Zheng X, Esmaeeli S, Davis JW, Lai YP, Chen X, Justice AE, Leader JB, Mirshahi T, Carey DJ, Verma A, Sirugo G, Ritchie MD, Rader DJ, Povysil G, Goldstein DB, Kiryluk K, Pairo-Castineira E, Rawlik K, Pasko D, Walker S, Meynert A, Kousathanas A, Moutsianas L, Tenesa A, Caulfield M, Scott R, Wilson JF, Baillie JK, Butler-Laporte G, Nakanishi T, Lathrop M, Richards JB; Regeneron Genetics Center; UKB Exome Sequencing Consortium; Jones M, Balasubramanian S, Salerno W, Shuldiner AR, Marchini J, Overton JD, Habegger L, Cantor MN, Reid JG, Baras A, Abecasis GR, Ferreira MAR. Kosmicki JA, et al. Am J Hum Genet. 2021 Jul 1;108(7):1350-1355. doi: 10.1016/j.ajhg.2021.05.017. Epub 2021 Jun 3. Am J Hum Genet. 2021. PMID: 34115965 Free PMC article.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.
Comparative transcriptome in large-scale human and cattle populations.
Yao Y, Liu S, Xia C, Gao Y, Pan Z, Canela-Xandri O, Khamseh A, Rawlik K, Wang S, Li B, Zhang Y, Pairo-Castineira E, D'Mellow K, Li X, Yan Z, Li CJ, Yu Y, Zhang S, Ma L, Cole JB, Ross PJ, Zhou H, Haley C, Liu GE, Fang L, Tenesa A. Yao Y, et al. Among authors: pairo castineira e. Genome Biol. 2022 Aug 22;23(1):176. doi: 10.1186/s13059-022-02745-4. Genome Biol. 2022. PMID: 35996157 Free PMC article.
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