Page 61 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
legati a, gioVannini d, nicolas g, lóPeZ-sáncheZ u, quintáns B, oliVeira Jr, sears rl, ramos em, sPiteri e, soBrido mJ, carracedo á, castro-FernándeZ c, cuBiZolle s, Fogel Bl, goiZet c, Jen Jc, KirdlarP s, lang ae, miedZYBrodZKa Z, mitarnun W, Paucar m, Paulson h, Pariente J, richard ac, salins ns, simPson sa, stri- ano P, sVenningsson P, tison F, unni VK, VanaKKer o, Wessels mW, WetchaPhanPhesat s, Yang m, Boller F, camPion d, hannequin d, sitBon m, geschWind dh, Batti- ni Jl, coPPola g. Mutations in XPR1 cause primary famil- ial brain calcification associated with altered phosphate export. Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ ng.3289. Epub 2015 May 4.PMID: 25938945.
manciKoVa V, cruZ r, inglada-PéreZ l, FernándeZ-roZa- dilla c, landa i, cameselle-teiJeiro J, celeiro c, Pastor s, VeláZqueZ a, marcos r, andía V, álVareZ-escolá c, meoro a, schiaVi F, oPocher g, quintela i, ansede-Ber- meJo J, ruiZ-Ponte c, santisteBan P, roBledo m, car- racedo a. Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic
Highlights
During 2015 we have increased our scientific pro- duction to about 50 papers, which is our historical record in number of papers, although we have de- creased the number of publications in top journals with only two with an IF>30. However 75% of the pa- pers are still in the first quartile.
We have increased the publication of case reports most of them related with specific microstructural chromosome disorders dealing with autism cases.
The activity related with the genetics of rare adver- sary drug reaction has also increased, while the line of research related with the genetics of complex traits and particularly cancer (breast, colorectal can- cer and thyroid cancer) is also yielding excellent re- sults with new genes involved in colorectal and thy- roid cancer being discovered.
Next-generation sequencing (NGS) is allowing the discovery of the new genes involved in rare disorders and the discovery of mutations in XPR1 that cause primary familial brain calcification associated with altered phosphate export, published in Nature Ge-
Institution: Universidad de Santiago de Compostela 15782 Santiago de Compostela · Tel.: 981 951 491 ·
heterogeneity among populations. Int J Cancer. 2015 Oct 15;137(8):1870-8. doi: 10.1002/ijc.29557. Epub 2015.
BalBoa-Beltrán e, cruZ r, carracedo a, Barros F. De- limiting Allelic Imbalance of TYMS by Allele-Specific Anal- ysis. Medicine (Baltimore). 2015 Jul;94(27):e1091. doi: 10.1097/MD.0000000000001091. PMID:26166093.
BalBoa-Beltrán e, duran g, lamas mJ, carracedo a, Barros F. Long Survival and Severe Toxicity Under 5-Fluorouracil-Based Therapy in a Patient With Colorectal Cancer Who Harbors a Germline Codon-Stop Mutation in TYMS. Mayo Clin Proc. 2015 Sep;90(9):1298-303. doi: 10.1016/j.mayocp.2015.05.005. Epub 2015 Jul 22. PMID: 26210704.
Brion m, soBrino B, martíneZ m, Blanco-Verea a, car- racedo a. Massive parallel sequencing applied to the mo- lecular autopsy in sudden cardiac death in the young. Fo- rensic Sci Int Genet. 2015 Sep;18:160-70. doi: 10.1016/j. fsigen.2015.07.010. Epub 2015 Jul 23. PMID: 26243589.
netics, is a good example of the applications of NGS in gene discovery.
The line of research related with cardiac sudden death is also in a good progress, as well as the ones related with psychiatric diseases especially in the childhood that have an important genetic compo- nent.
The activity of the group in national and international consortia has also increased with two H2020 Euro- pean projects awarded, PANCANRISK leaded by our group for cancer stratification and prediction and B-CAST, also for breast cancer prediction where the group is leading the working package on genetic bi- omarker discovery through massive sequencing of tumors and normal tissue.
Finally the translation of the research to clinical prac- tice has been important for us, with an special effort last year in pharmacogenomics and personalized medicine, including actions for early drug discovery through the platform INNOPHARMA and the contri- butions of other groups of the CIBERER.
· Contact: Facultad de Medicina · C/ San Francisco, S/N Website: http://www.xenomica.org/
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