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eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet R, Bezdan D, Domenech Salgado L, Hor H, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X, Ossowski S. Bosio M, et al. Among authors: drechsel o. Hum Mutat. 2019 Jul;40(7):865-878. doi: 10.1002/humu.23772. Epub 2019 May 21. Hum Mutat. 2019. PMID: 31026367 Free PMC article.
Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.
Bassaganyas L, Beà S, Escaramís G, Tornador C, Salaverria I, Zapata L, Drechsel O, Ferreira PG, Rodriguez-Santiago B, Tubio JM, Navarro A, Martín-García D, López C, Martínez-Trillos A, López-Guillermo A, Gut M, Ossowski S, López-Otín C, Campo E, Estivill X. Bassaganyas L, et al. Among authors: drechsel o. Leukemia. 2013 Dec;27(12):2376-9. doi: 10.1038/leu.2013.127. Epub 2013 Apr 24. Leukemia. 2013. PMID: 23612016 Free PMC article. No abstract available.
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jiménez-Jiménez FJ, Gironell A, Clarimón J, Drechsel O, Agúndez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleó A, Coria F, García-Martin E, Alonso-Navarro H, Martí MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, Katsanis N, Pastor P, Estivill X. Hor H, et al. Among authors: drechsel o. Hum Mol Genet. 2015 Oct 15;24(20):5677-86. doi: 10.1093/hmg/ddv281. Epub 2015 Jul 17. Hum Mol Genet. 2015. PMID: 26188006 Free PMC article.
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
Bahamonde MI, Serra SA, Drechsel O, Rahman R, Marcé-Grau A, Prieto M, Ossowski S, Macaya A, Fernández-Fernández JM. Bahamonde MI, et al. Among authors: drechsel o. PLoS One. 2015 Dec 30;10(12):e0146035. doi: 10.1371/journal.pone.0146035. eCollection 2015. PLoS One. 2015. PMID: 26716990 Free PMC article.
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.
Rabionet R, Remesal A, Mensa-Vilaró A, Murías S, Alcobendas R, González-Roca E, Ruiz-Ortiz E, Antón J, Iglesias E, Modesto C, Comas D, Puig A, Drechsel O, Ossowski S, Yagüe J, Merino R, Estivill X, Arostegui JI. Rabionet R, et al. Among authors: drechsel o. Sci Rep. 2019 Mar 14;9(1):4579. doi: 10.1038/s41598-019-40874-2. Sci Rep. 2019. PMID: 30872671 Free PMC article.
The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Arcas-García A, Garcia-Prat M, Magallón-Lorenz M, Martín-Nalda A, Drechsel O, Ossowski S, Alonso L, Rivière JG, Soler-Palacín P, Colobran R, Sayós J, Martínez-Gallo M, Franco-Jarava C. Arcas-García A, et al. Among authors: drechsel o. Clin Exp Immunol. 2020 Apr;200(1):61-72. doi: 10.1111/cei.13405. Epub 2020 Jan 19. Clin Exp Immunol. 2020. PMID: 31799703 Free PMC article.
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.
Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, Zamora J, Supek F, Demeulemeester J, Santamarina M, Ju YS, Temes J, Garcia-Souto D, Detering H, Li Y, Rodriguez-Castro J, Dueso-Barroso A, Bruzos AL, Dentro SC, Blanco MG, Contino G, Ardeljan D, Tojo M, Roberts ND, Zumalave S, Edwards PA, Weischenfeldt J, Puiggròs M, Chong Z, Chen K, Lee EA, Wala JA, Raine KM, Butler A, Waszak SM, Navarro FCP, Schumacher SE, Monlong J, Maura F, Bolli N, Bourque G, Gerstein M, Park PJ, Wedge DC, Beroukhim R, Torrents D, Korbel JO, Martincorena I, Fitzgerald RC, Van Loo P, Kazazian HH, Burns KH; PCAWG Structural Variation Working Group; Campbell PJ, Tubio JMC; PCAWG Consortium. Rodriguez-Martin B, et al. Nat Genet. 2020 Mar;52(3):306-319. doi: 10.1038/s41588-019-0562-0. Epub 2020 Feb 5. Nat Genet. 2020. PMID: 32024998 Free PMC article.
The landscape of viral associations in human cancers.
Zapatka M, Borozan I, Brewer DS, Iskar M, Grundhoff A, Alawi M, Desai N, Sültmann H, Moch H; PCAWG Pathogens; Cooper CS, Eils R, Ferretti V, Lichter P; PCAWG Consortium. Zapatka M, et al. Nat Genet. 2020 Mar;52(3):320-330. doi: 10.1038/s41588-019-0558-9. Epub 2020 Feb 5. Nat Genet. 2020. PMID: 32025001 Free PMC article.
76 results