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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. Among authors: fernandez orth d. Nat Commun. 2021 Nov 16;12(1):6618. doi: 10.1038/s41467-021-26783-x. Nat Commun. 2021. PMID: 34785669 Free PMC article.
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ; UK10K consortium; Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B. Haworth S, et al. Among authors: fernandez orth d. Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x. Nat Commun. 2019. PMID: 30664637 Free PMC article.
Circulating miRNAs, isomiRs and small RNA clusters in human plasma and breast milk.
Rubio M, Bustamante M, Hernandez-Ferrer C, Fernandez-Orth D, Pantano L, Sarria Y, Piqué-Borras M, Vellve K, Agramunt S, Carreras R, Estivill X, Gonzalez JR, Mayor A. Rubio M, et al. PLoS One. 2018 Mar 5;13(3):e0193527. doi: 10.1371/journal.pone.0193527. eCollection 2018. PLoS One. 2018. PMID: 29505615 Free PMC article.
Characterization of Plasmodium vivax Proteins in Plasma-Derived Exosomes From Malaria-Infected Liver-Chimeric Humanized Mice.
Gualdrón-López M, Flannery EL, Kangwanrangsan N, Chuenchob V, Fernandez-Orth D, Segui-Barber J, Royo F, Falcón-Pérez JM, Fernandez-Becerra C, Lacerda MVG, Kappe SHI, Sattabongkot J, Gonzalez JR, Mikolajczak SA, Del Portillo HA. Gualdrón-López M, et al. Front Microbiol. 2018 Jun 25;9:1271. doi: 10.3389/fmicb.2018.01271. eCollection 2018. Front Microbiol. 2018. PMID: 29988527 Free PMC article.
The European Genome-phenome Archive in 2021.
Freeberg MA, Fromont LA, D'Altri T, Romero AF, Ciges JI, Jene A, Kerry G, Moldes M, Ariosa R, Bahena S, Barrowdale D, Barbero MC, Fernandez-Orth D, Garcia-Linares C, Garcia-Rios E, Haziza F, Juhasz B, Llobet OM, Milla G, Mohan A, Rueda M, Sankar A, Shaju D, Shimpi A, Singh B, Thomas C, de la Torre S, Uyan U, Vasallo C, Flicek P, Guigo R, Navarro A, Parkinson H, Keane T, Rambla J. Freeberg MA, et al. Among authors: fernandez orth d. Nucleic Acids Res. 2022 Jan 7;50(D1):D980-D987. doi: 10.1093/nar/gkab1059. Nucleic Acids Res. 2022. PMID: 34791407 Free PMC article.
23 results