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Most relevant scientific articles
• De rubeis s, He x, GolDberG ap, poultney cs, samocHa K, ciceK ae, Kou y, liu l, Fromer m, WalKer s, sinGH t, Klei l, KosmicKi J, sHiH-cHen F, aleKsic b et al . Synaptic, transcriptional and chromatin genes disrupted in autism . Nature; 2014 Nov 13 . 515(7526):209-15;
• arKinG De, pulit sl, crotti l, Van Der Harst p, munroe pb, Koopmann tt, sotooDeHnia n, rossin eJ, morley m, WanG x, JoHnson aD, lunDby a, GuDbJartsson DF, noseWortHy pa, eiJGelsHeim m, et al . Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization . . Nat Genet; 2014 Aug . 46(8):826-36;
• FacHal l, Gómez-caamaño a, barnett Gc, peleteiro p, carballo am, calVo-crespo p, Kerns sl, sáncHez-Gar- cía m, lobato-busto r, DorlinG l, elliott rm, et al . A three-stage genome-wide association study iden- tifies a susceptibility locus for late radiotherapy toxicity at 2q24 .1 . Nat Genet; 2014 Aug . 46(8):891-4;
• rosmarin D, palles c, paGnamenta a, Kaur K, pita G, martin m, DominGo e, Jones a, HoWartH K, Freeman- mills l, JoHnstone e, WanG H, loVe s, scuDDer c, Julier p, et al . A candidate gene study of capecitabine- related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS . Gut ;2014 Mar 19 .
• Kinnersley b, bucH s, castellVí-bel s, FarrinGton sm, Forsti a, Hampe J, HemminKi K, HoFstra rm, nortHWooD e, palles c, pinHeiro m, ruiz-ponte c, et al . . Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis . J Natl Cancer Inst ;May . 106(5):
Highlights
Institution: Universidad de Santiago de Compostela Contact: Facultad de Medicina . San Francisco, s/n . 15782 Santiago de Compostela Tel .: (+34) 981 951 491 · Web: http://www .xenomica .org/
During 2014 we started, a collaboration with Actelion Pharmaceuticals to develope an specific line for the study of Newman Pick type C and led an international consortium on cerebrotendinous xanthomatosis .
In terms of competitive resources, we must highlight that the effort of this year has allowed us to obtain financing for two H2020 projects, one of them as coordinators .
Regarding the application of knowledge, we have produced two systematic reviews (Primary Familial Brain Calcification, (MJ Sobrido et al and Spinocerebellar Ataxia Type 36, M Arias et al), collaborated on several reports and opinions (basically IRDiRC) or consensus documents (Reference for establishing clinical criteria of suspected CMMR-D . Wimmer et al) and have collaborated with an international consortium in the identification of new genes for autism . Other findings have been published in A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease” . (Balboa-Beltran E et al . J Med Genet) y “A three- stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24 .1” . (Fachal L et al, Nat Genet) .
The research group has also implemented a database for historical description of variants sequenced and elimination of systematic errors and designed a pipeline for NGS analysis for processing raw ultrasequencing results .
Finally, one member of our group, Dr . Sobrido, has been appointed coordinator of the Study of Ataxia and degenerative Spastic parapareglias (Spanish Society of Neurology) and has been invited to participate as an expert in the Scientific Panel of Neurogenetics Subspecialty (European Academy of Neurology) .
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