Publicaciones 2015

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. 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, Fernández-Rozadilla C, Ruiz-Ponte C, Carracedo A, Castellvi-Bel S, Castells A, Gonzalez-Neira A, Taylor J, Kerr R, Kerr D, Tomlinson I. Gut. Original article. 2015 Jan;64(1):111-20. doi: 10.1136/gutjnl-2013-306571. Epub 2014 Mar 19. 2014 Mar 19. doi: 10.1136/gutjnl-2013-306571. [Epub ahead of print]

Brain activation of the defensive and appetitive survival systems in obsessive compulsive disorder. Gonçalves OF, Soares JM, Carvalho S, Leite J, Ganho A, Fernandes-Gonçalves A, Frank B, Pocinho F, Relvas J, Carracedo A, Sampaio A. Brain Imaging Behav. Original research. 2015 Jun;9(2):255-63. doi: 10.1007/s11682-014-9303-2. 2014 Apr 24. [Epub ahead of print].

Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications. Alcalde M, Campuzano O, Allegue C, Torres M, Arbelo E, Partemi S, Iglesias A, Brugada J, Oliva A, Carracedo A, Brugada R. Int J Legal Med. Original article. 2015 Jan;129(1):1-10. doi: 10.1007/s00414-014-0996-y. Epub 2014 May 16. 2014 May 16. [Epub ahead of print].

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. Esteban-Jurado C, Vila-Casadesús M, Garre P, Lozano JJ, Pristoupilova A, Beltran S, Muñoz J, Ocaña T, Balaguer F, López-Cerón M, Cuatrecasas M, Franch-Expósito S, Piqué JM, Castells A, Carracedo A, Ruiz-Ponte C, Abulí A, Bessa X, Andreu M, Bujanda L, Caldés T, Castellví-Bel S. Genet Med. Original research article. 2015 Feb;17(2):131-42. doi: 10.1038/gim.2014.89. Epub 2014 Jul 24. 2014 Jul 24. doi: 10.1038/gim.2014.89. [Epub ahead of print].

Predicting proliferative vitreoretinopathy: temporal and external validation of models based on genetic and clinical variables. Rojas J, Fernandez I, Pastor JC, MacLaren RE, Ramkissoon Y, Harsum S, Charteris DG, Van Meurs JC, Amarakoon S, Garcia-Arumi J, Ruiz-Moreno JM, Rocha-Sousa A, Brion M, Carracedo A; for the Genetics on PVR Study Group (web file). Br J Ophthalmol. Research support; Article. 2015 Jan;99(1):41-8. doi: 10.1136/bjophthalmol-2014-305263. Epub 2014 Jul 29. 2014 Jul 29. pii: bjophthalmol-2014-305263. doi: 10.1136/bjophthalmol-2014-305263. [Epub ahead of print]

A SNaPshot of next generation sequencing for forensic SNP analysis. Daniel R, Santos C, Phillips C, Fondevila M, van Oorschot RA, Carracedo A, Lareu MV, McNevin D. Forensic Sci Int Genet. Original research article. 2015 Jan;14:50-60. doi: 10.1016/j.fsigen.2014.08.013. Epub 2014 Aug 30. 2014 Aug 30;14C:50-60. doi: 10.1016/j.fsigen.2014.08.013. [Epub ahead of print]

Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors. Rudolph A, Milne RL, Truong T, Knight JA, Seibold P, Flesch-Janys D, Behrens S, Eilber U, Bolla MK, Wang Q, Dennis J, Dunning AM, Shah M, Munday HR, Darabi H, Eriksson M, Brand JS, Olson J, Vachon CM, Hallberg E, Castelao JE, Carracedo A, Torres M, Li J, Humphreys K, Cordina-Duverger E, Menegaux F, Flyger H, Nordestgaard BG, Nielsen SF, Yesilyurt BT, Floris G, Leunen K, Engelhardt EG, Broeks A, Rutgers EJ, Glendon G, Mulligan AM, Cross S, Reed M, Gonzalez-Neira A, Arias Perez JI, Provenzano E, Apicella C, Southey MC, Spurdle A; kConFab Investigators; AOCS Group, Häberle L, Beckmann MW, Ekici AB, Dieffenbach AK, Arndt V, Stegmaier C, McLean C, Baglietto L, Chanock SJ, Lissowska J, Sherman ME, Brüning T, Hamann U, Ko YD, Orr N, Schoemaker M, Ashworth A, Kosma VM, Kataja V, Hartikainen JM, Mannermaa A, Swerdlow A; GENICA-Network, Giles GG, Brenner H, Fasching PA, Chenevix-Trench G, Hopper J, Benítez J, Cox A, Andrulis IL, Lambrechts D, Gago-Dominguez M, Couch F, Czene K, Bojesen SE, Easton DF, Schmidt MK, Guénel P, Hall P, Pharoah PD, Garcia-Closas M, Chang-Claude J. Int J Cancer. Research support; Article. 2015 Mar 15;136(6):E685-96. doi: 10.1002/ijc.29188. Epub 2014 Sep 23. 2014 Sep 16. doi: 10.1002/ijc.29188. [Epub ahead of print].

The multiethnic ancestry of Bolivians as revealed by the analysis of Y-chromosome markers. Cárdenas JM, Heinz T, Pardo-Seco J, Álvarez-Iglesias V, Taboada-Echalar P, Sánchez-Diz P, Carracedo Á, Salas A. Forensic Sci Int Genet. Article. 2015 Jan;14:210-8. doi: 10.1016/j.fsigen.2014.10.023. Epub 2014 Nov 1.

High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme. Apellániz-Ruiz M, Inglada-Pérez L, Naranjo ME, Sánchez L, Mancikova V, Currás-Freixes M, de Cubas AA, Comino-Méndez I, Triki S, Rebai A, Rasool M, Moya G, Grazina M, Opocher G, Cascón A, Taboada-Echalar P, Ingelman-Sundberg M, Carracedo A, Robledo M, Llerena A, Rodríguez-Antona C. Pharmacogenomics J. Originasl article. 2015 Jun;15(3):288-92. doi: 10.1038/tpj.2014.67. Epub 2014 Nov 4. 2014 Nov 4. doi: 10.1038/tpj.2014.67. [Epub ahead of print].

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Painter JN, O’Mara TA, Batra J, Cheng T, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K, Healey CS, Kaufmann S, Hillman KM, Walpole C, Moya L, Pollock P, Jones A, Howarth K, Martin L, Gorman M, Hodgson S; National Study of Endometrial Cancer Genetics Group (NSECG); CHIBCHA Consortium, De Polanco MM, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Santos E, Teixeira MR, Carvajal-Carmona L, Shu XO, Long J, Zheng W, Xiang YB; The Australian National Endometrial Cancer Study Group (ANECS), Montgomery GW, Webb PM, Scott RJ, McEvoy M, Attia J, Holliday E, Martin NG, Nyholt DR, Henders AK, Fasching PA, Hein A, Beckmann MW, Renner SP, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Lambrechts D, Coenegrachts L, Schrauwen S, Amant F, Winterhoff B, Dowdy SC, Goode EL, Teoman A, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Ashton K, Proietto T, Otton G, Tzortzatos G, Mints M, Tham E; RENDOCAS, Hall P, Czene K, Liu J, Li J, Hopper JL, Southey MC; Australian Ovarian Cancer Study (AOCS), Ekici AB, Ruebner M, Johnson N, Peto J, Burwinkel B, Marme F, Brenner H, Dieffenbach AK, Meindl A, Brauch H; The GENICA Network, Lindblom A, Depreeuw J, Moisse M, Chang-Claude J, Rudolph A, Couch FJ, Olson JE, Giles GG, Bruinsma F, Cunningham JM, Fridley BL, Børresen-Dale AL, Kristensen VN, Cox A, Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber RP, Chen Z, Shah M, French JD, Pharoah PD, Dunning AM, Tomlinson I, Easton DF, Edwards SL, Thompson DJ, Spurdle AB (Ponte CR). Hum Mol Genet. Article. 2015 Mar 1;24(5):1478-92. doi: 10.1093/hmg/ddu552. Epub 2014 Nov 6. 2014 Nov 6. pii: ddu552. [Epub ahead of print].

Evidence for weak genetic recombination at the PTP2 locus of Nosema ceranae. Gómez-Moracho T, Bartolomé C, Martín-Hernández R, Higes M, Maside X. Environ Microbiol. Research article. 2015 Apr;17(4):1300-9. doi: 10.1111/1462-2920.12574. Epub 2014 Aug 20. 2014 Jul 23. doi: 10.1111/1462-2920.12574. [Epub ahead of print].

Is Acarapis woodi a single species? A new PCR protocol to evaluate its prevalence. Cepero A, Martín-Hernández R, Prieto L, Gómez-Moracho T, Martínez-Salvador A, Bartolomé C, Maside X, Meana A, Higes M. Parasitol Res. Original paper. 2015 Feb;114(2):651-8. doi: 10.1007/s00436-014-4229-6. Epub 2014 Nov 18. 2014 Nov 18. [Epub ahead of print].

Associated Inosine to interferon: Results of a clinical trial in multiple sclerosis. Muñoz García D, Midaglia L, Martinez Vilela J, Marín Sánchez M, López González FJ, Arias Gómez M, Dapena Bolaño D, Iglesias Castañón A, Alonso Alonso M, Romero López J. Acta Neurol Scand. Original article. 2015 Jun;131(6):405-10. doi: 10.1111/ane.12333. Epub 2014 Oct 14. 2014 Oct 14. doi: 10.1111/ane.12333. [Epub ahead of print].

Evaluation of DNA variants associated with androgenetic alopecia and their potential to predict male pattern baldness. Marcińska M, Pośpiech E, Abidi S, Andersen JD, van den Berge M, Carracedo Á, Eduardoff M, Marczakiewicz-Lustig A, Morling N, Sijen T, Skowron M, Söchtig J, Syndercombe-Court D, Weiler N; EUROFORGEN-NoE Consortium, Schneider PM, Ballard D, Børsting C, Parson W, Phillips C, Branicki W. PLoS One. Research article. 2015 May 22;10(5):e0127852. doi: 10.1371/journal.pone.0127852. ECollection 2015.

Epidemiological trends of histopathologically WHO classified CNS tumors in developing countries: systematic review. Khan I, Bangash M, Baeesa S, Jamal A, Carracedo A, Alghamdi F, Qashqari H, Abuzenadah A, AlQahtani M, Damanhouri G, Chaudhary A, Hussein D. Asian Pac J Cancer Prev. Research article; Journal article; Research support. 2015;16(1):205-16.

Completion of a worldwide reference panel of samples for an ancestry informative Indel assay. Santos C, Phillips C, Oldoni F, Amigo J, Fondevila M, Pereira R, Carracedo Á, Lareu MV. Forensic Sci Int Genet. Original research. 2015 Jul;17:75-80. doi: 10.1016/j.fsigen.2015.03.011. Epub 2015 Mar 25. 2015 Mar 25;17:75-80. doi: 10.1016/j.fsigen.2015.03.011. [Epub ahead of print]

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features. Quintela I, Barros F, Lago-Leston R, Castro-Gago M, Carracedo A, Eiris J. Am J Med Genet A. Article. 2015 Jun;167(6):1315-22. doi: 10.1002/ajmg.a.36909. Epub 2015 Apr 2. 2015 Apr 2. doi: 10.1002/ajmg.a.36909. [Epub ahead of print].

Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations. Mancikova V, Cruz R, Inglada-Pérez L, Fernández-Rozadilla 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-Bermejo J, Ruiz-Ponte C, Santisteban P, Robledo M, Carracedo A. Int J Cancer. 2015 Oct 15;137(8):1870-8. doi: 10.1002/ijc.29557. Epub 2015 Apr 22. 2015 Apr 8. doi: 10.1002/ijc.29557. [Epub ahead of print].

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome. Quintela I, Barros F, Castro-Gago M, Carracedo A, Eiris J. Am J Med Genet A. Clinical report; Article. 2015 Jun;167(6):1369-73. doi: 10.1002/ajmg.a.37038. Epub 2015 Apr 21. 2015 Apr 21. doi: 10.1002/ajmg.a.37038. [Epub ahead of print].

Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility. Suárez-Rama JJ, Arrojo M, Sobrino B, Amigo J, Brenlla J, Agra S, Paz E, Brión M, Carracedo Á, Páramo M, Costas J. J Psychiatr Res. Original research article. 2015 Jul-Aug;66-67C:38-44. doi: 10.1016/j.jpsychires.2015.04.013. Epub 2015 Apr 22. 2015 Apr 22. pii: S0022-3956(15)00116-8. doi: 10.1016/j.jpsychires.2015.04.013. [Epub ahead of print

Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer. Castillejo A, Hernández-Illán E, Rodriguez-Soler M, Pérez-Carbonell L, Egoavil C, Barberá VM, Castillejo MI, Guarinos C, Martínez-de-Dueñas E, Juan MJ, Sánchez-Heras AB, García-Casado Z, Ruiz-Ponte C, Brea-Fernández A, Juárez M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Alenda C, Payá A, Jover R, Soto JL. J Med Genet. Research support; Short report; Article. 2015 Jul;52(7):498-502. doi: 10.1136/jmedgenet-2015-103076. Epub 2015 Apr 23. 2015 Apr 23. pii: jmedgenet-2015-103076. doi: 10.1136/jmedgenet-2015-103076. [Epub ahead of print]

Association between SNPs of Metalloproteinases and Prostaglandin F2α Receptor Genes and Latanoprost Response in Open-Angle Glaucoma. Ussa F, Fernandez I, Brion M, Carracedo A, Blazquez F, Garcia MT, Sanchez-Jara A, De Juan-Marcos L, Jimenez-Carmona S, Juberias JR, Martinez-de-la-Casa JM, Pastor JC. Ophthalmology. Original article. 2015 May;122(5):1040-1048.e4. doi: 10.1016/j.ophtha.2014.12.038. Epub 2015 Feb 19.

Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer. Moreira L, Muñoz J, Cuatrecasas M, Quintanilla I, Leoz ML, Carballal S, Ocaña T, López-Cerón M, Pellise M, Castellví-Bel S, Jover R, Andreu M, Carracedo A, Xicola RM, Llor X, Boland CR, Goel A, Castells A, Balaguer F. Cancer. Original article. 2015 May 1;121(9):1395-404. doi: 10.1002/cncr.29190. Epub 2014 Dec 29.

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J; GTEx Consortium; Geuvadis Consortium, Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG (Carracedo A). Science. Journal article; Research support; Report. 2015 May 8;348(6235):666-9. doi: 10.1126/science.1261877.

An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders. Rodriguez-Lopez J, Carrera N, Arrojo M, Amigo J, Sobrino B, Páramo M, Paz E, Agra S, Ramos-Ríos R, Brenlla J, Carracedo Á, Costas J. Clin Chim Acta. Original research article. 2015 May 20;445:34-40. doi: 10.1016/j.cca.2015.03.013. Epub 2015 Mar 20.

affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling. Hernandez-Ferrer C, Quintela Garcia I, Danielski K, Carracedo Á, Pérez-Jurado LA, González JR. BMC Bioinformatics. Journal article. 2015 May 20;16:167. doi: 10.1186/s12859-015-0608-y.

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. 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, Striano 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, Battini JL, Coppola G. Nat Genet. Brief communication. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4.

Paternal lineages in Libya inferred from Y-chromosome haplogroups. Triki-Fendri S, Sánchez-Diz P, Rey-González D, Ayadi I, Carracedo Á, Rebai A. Am J Phys Anthropol. Research article; Journal article. 2015 Jun;157(2):242-51. doi: 10.1002/ajpa.22705. Epub 2015 Feb 11.

Inferior frontal gyrus white matter abnormalities in obsessive-compulsive disorder. Gonçalves ÓF, Sousa S, Maia L, Carvalho S, Leite J, Ganho A, Fernandes-Gonçalves A, Frank B, Pocinho F, Carracedo A, Sampaio A. Neuroreport. Clinical neuroscience. 2015 Jun 17;26(9):495-500. doi: 10.1097/WNR.0000000000000377.

Inter-laboratory evaluation of SNP-based forensic identification by massively parallel sequencing using the Ion PGM™. Eduardoff M, Santos C, de la Puente M, Gross TE, Fondevila M, Strobl C, Sobrino B, Ballard D, Schneider PM, Carracedo Á, Lareu MV, Parson W, Phillips C. Forensic Sci Int Genet. Research paper; Research support. 2015 Jul;17:110-21. doi: 10.1016/j.fsigen.2015.04.007. Epub 2015 Apr 15. 2015 Apr 15;17:110-121. doi: 10.1016/j.fsigen.2015.04.007. [Epub ahead of print]

Ancestry informative markers: inference of ancestry in aged bone samples using an autosomal AIM-Indel multiplex. Romanini C, Romero M, Salado Puerto M, Catelli L, Phillips C, Pereira R, Gusmão L, Vullo C. Forensic Sci Int Genet. Research support; Short communication; Article. 2015 May;16:58-63. doi: 10.1016/j.fsigen.2014.11.025. Epub 2014 Dec 5.

Forensic genetic analysis of bio-geographical ancestry. Phillips C. Forensic Sci Int Genet. Original research article. 2015 Sep;18:49-65. doi: 10.1016/j.fsigen.2015.05.012. Epub 2015 May 19. 2015 May 19. pii: S1872-4973(15)30016-8. doi: 10.1016/j.fsigen.2015.05.012. [Epub ahead of print]

p21{Waf1/CIP1} is a poor diagnostic and prognostic marker for OSCC although its expression increases in patients with N1 regional metastasis. Pérez-Sayáns M, Suárez-Peñaranda JM, Iruegas EP, de Almeida MR, Barros-Angueira F, Torreira MG, García-García A. Cancer Biomark. Article. 2015;15(1):19-26. doi: 10.3233/CBM-140440.

Mitogenomes from The 1000 Genome Project reveal new Near Eastern features in present-day Tuscans. Gómez-Carballa A, Pardo-Seco J, Amigo J, Martinón-Torres F, Salas A. PLoS One. Research support; Research article. 2015 Mar 18;10(3):e0119242. doi: 10.1371/journal.pone.0119242. ECollection 2015.

Aetiology and epidemiology of human cryptosporidiosis cases in Galicia (NW Spain), 2000-2008. Abal-Fabeiro JL, Maside X, Llovo J, Bartolomé C. Epidemiol Infect. Original papers. 2015 Oct;143(14):3022-35. doi: 10.1017/S0950268815000163. Epub 2015 Feb 20. 2015 Feb 20:1-15. [Epub ahead of print].

Recent worldwide expansion of Nosema ceranae (Microsporidia) in Apis mellifera populations inferred from multilocus patterns of genetic variation. Gómez-Moracho T, Bartolomé C, Bello X, Martín-Hernández R, Higes M, Maside X. Infect Genet Evol. Research support; Original research article. 2015 Apr;31:87-94. doi: 10.1016/j.meegid.2015.01.002. Epub 2015 Jan 9.

Genomic insights on the ethno-history of the Maya and the ‘Ladinos’ from Guatemala. Söchtig J, Álvarez-Iglesias V, Mosquera-Miguel A, Gelabert-Besada M, Gómez-Carballa A, Salas A. BMC Genomics. Research article. 2015 Feb 25;16:131. doi: 10.1186/s12864-015-1339-1.

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population. Fachal L, Mosquera-Miguel A, Pastor P, Ortega-Cubero S, Lorenzo E, Oterino-Durán A, Toriello M, Quintáns B, Camiña-Tato M, Sesar A, Vega A, Sobrido MJ, Salas A. Am J Med Genet B Neuropsychiatr Genet. Research support; Article. 2015 Jan;168B(1):54-65. doi: 10.1002/ajmg.b.32276. Epub 2014 Oct 28.

Genome-wide ancestry of 17th-century enslaved Africans from the Caribbean. Schroeder H, Ávila-Arcos MC, Malaspinas AS, Poznik GD, Sandoval-Velasco M, Carpenter ML, Moreno-Mayar JV, Sikora M, Johnson PL, Allentoft ME, Samaniego JA, Haviser JB, Dee MW, Stafford TW Jr, Salas A, Orlando L, Willerslev E, Bustamante CD, Gilbert MT. Proc Natl Acad Sci U S A. Research support; Artcle. 2015 Mar 24;112(12):3669-73. doi: 10.1073/pnas.1421784112. Epub 2015 Mar 9.

Mitochondrial DNA as a risk factor for false positives in case-control association studies. Salas A, Elson JL. J Genet Genomics. Letter; Letter to the editor. 2015 Apr 20;42(4):169-72. doi: 10.1016/j.jgg.2015.03.002. Epub 2015 Mar 17.

Impact of rotavirus vaccination on childhood hospitalization for seizures. Pardo-Seco J, Cebey-López M, Martinón-Torres N, Salas A, Gómez Rial J, Rodriguez-Tenreiro C, María-Martinón J, Martinón-Torres F. Pediatr Infect Dis J. Research support; Journal article; Report. 2015 Jul;34(7):769-73. doi: 10.1097/INF.0000000000000723. 2015 Apr 28. [Epub ahead of print].

Clinical and neuropathological features of spastic ataxia in a spanish family with novel compound heterozygous mutations in STUB1. Bettencourt C, de Yébenes JG, López-Sendón JL, Shomroni O, Zhang X, Qian SB, Bakker IM, Heetveld S, Ros R, Quintáns B, Sobrido MJ, Bevova MR, Jain S, Bugiani M, Heutink P, Rizzu P. Cerebellum. Letter to the editor. 2015 Jun;14(3):378-81. doi: 10.1007/s12311-014-0643-7.

Gastrointestinal symptoms in late-onset Pompe disease: Early response to enzyme replacement therapy. Pardo J, García-Sobrino T, López-Ferreiro A. J Neurol Sci. Letter to the editor. 2015 Jun 15;353(1-2):181-2. doi: 10.1016/j.jns.2015.04.012. Epub 2015 Apr 17.

Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S; EMBRACE, Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM; GEMO Study Collaborators, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O’Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC; Breast Cancer Family Registry, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB; HEBON, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira MR; KConFab Investigators, Pankratz VS, Wang X, Lindor N, Szabo CI, Kauff N, Vijai J, Aghajanian CA, Pfeiler G, Berger A, Singer CF, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Tchatchou S, Andrulis IL, Glendon G, Toland AE, Jensen UB, Kruse TA, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade OI, Nussbaum RL, Rebbeck TR, Nathanson KL, Domchek SM, Lu KH, Karlan BY, Walsh C, Lester J; Australian Cancer Study (Ovarian Cancer Investigators); Australian Ovarian Cancer Study Group, Hein A, Ekici AB, Beckmann MW, Fasching PA, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty JA, Wicklund KG, Rossing MA, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U, Moysich KB, Odunsi K, Sucheston L, Lele S, Wilkens LR, Goodman MT, Thompson PJ, Shvetsov YB, Runnebaum IB, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Pelttari LM, Butzow R, Modugno F, Kelley JL, Edwards RP, Ness RB, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S, Jensen A, Kjaer SK, Hogdall E, Hasmad HN, Azmi MA, Teo SH, Woo YL, Fridley BL, Goode EL, Cunningham JM, Vierkant RA, Bruinsma F, Giles GG, Liang D, Hildebrandt MA, Wu X, Levine DA, Bisogna M, Berchuck A, Iversen ES, Schildkraut JM, Concannon P, Weber RP, Cramer DW, Terry KL, Poole EM, Tworoger SS, Bandera EV, Orlow I, Olson SH, Krakstad C, Salvesen HB, Tangen IL, Bjorge L, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Kellar M, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Cybulski C, Yang H, Lissowska J, Brinton LA, Wentzensen N, Hogdall C, Lundvall L, Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Ji BT, Zheng W, Shu XO, Gao YT, Rosen B, Risch HA, McLaughlin JR, Narod SA, Monteiro AN, Chen A, Lin HY, Permuth-Wey J, Sellers TA, Tsai YY, Chen Z, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Harrington P, Lee AW, Wu AH, Pearce CL, Coetzee G, Pike MC, Dansonka-Mieszkowska A, Timorek A, Rzepecka IK, Kupryjanczyk J, Freedman M, Noushmehr H, Easton DF, Offit K, Couch FJ, Gayther S, Pharoah PP, Antoniou AC, Chenevix-Trench G; Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (Vega A). Nat Genet. Letter. 2015 Feb;47(2):164-71. doi: 10.1038/ng.3185. Epub 2015 Jan 12.

BRCA1 Circos: A visualisation resource for functional analysis of missense variants. Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamariña Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallée M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN; Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium. J Med Genet. Research support; Original article. 2015 Apr;52(4):224-30. doi: 10.1136/jmedgenet-2014-102766. Epub 2015 Feb 2.

From candidate gene studies to GWAS and post-GWAS analyses in breast cancer. Fachal L, Dunning AM. Curr Opin Genet Dev. Review. 2015 Feb;30:32-41. doi: 10.1016/j.gde.2015.01.004. Epub 2015 Feb 27. 2015 Feb 26;30C:32-41. doi: 10.1016/j.gde.2015.01.004. [Epub ahead of print]

Cumulative role of rare and common putative functional genetic variants at NPAS3 in schizophrenia susceptibility. González-Peñas J, Arrojo M, Paz E, Brenlla J, Páramo M, Costas J. Am J Med Genet B Neuropsychiatr Genet. Research article. 2015 Oct;168(7):528-35. doi: 10.1002/ajmg.b.32324. Epub 2015 May 15. 2015 May 15. doi: 10.1002/ajmg.b.32324. [Epub ahead of print].

Comment on “current understanding of ZIP and ZnT zinc transporters in human health and diseases”. Costas J. Cell Mol Life Sci. Comment; Letter. 2015 Jan;72(1):197-8. doi: 10.1007/s00018-014-1746-5. Epub 2014 Oct 1.

The genomic legacy of the transatlantic slave trade in the yungas valley of Bolivia. Heinz T, Cárdenas JM, Álvarez-Iglesias V, Pardo-Seco J, Gómez-Carballa A, Santos C, Taboada-Echalar P, Martinón-Torres F, Salas A. PLoS One. Research article. 2015 Aug 11;10(8):e0134129. doi: 10.1371/journal.pone.0134129. ECollection 2015.

Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes. Quintela I, Barros-Angueira F, Perez-Gay L, Dacruz D, Castro-Gago M, Carracedo A, Eiris-Punal J. Rev Neurol. English abstract; Nota clínica.

Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood. Santori M, Blanco-Verea A, Gil R, Cortis J, Becker K, Schneider PM, Carracedo A, Brion M. Arch Dis Child. Original article. 2015 Oct;100(10):952-6. doi: 10.1136/archdischild-2015-308200. Epub 2015 Aug 13.

Genetic analysis of arrhythmogenic diseases in the Era of NGS: The complexity of clinical decision-making in Brugada Syndrome. Allegue C, Coll M, Mates J, Campuzano O, Iglesias A, Sobrino B, Brion M, Amigo J, Carracedo A, Brugada P, Brugada J, Brugada R. PLoS One. Research article. 2015 Jul 31;10(7):e0133037. doi: 10.1371/journal.pone.0133037. ECollection 2015.

A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk. Sanchez-Juan P, Bishop MT, Kovacs GG, Calero M, Aulchenko YS, Ladogana A, Boyd A, Lewis V, Ponto C, Calero O, Poleggi A, Carracedo Á, van der Lee SJ, Ströbel T, Rivadeneira F, Hofman A, Haïk S, Combarros O, Berciano J, Uitterlinden AG, Collins SJ, Budka H, Brandel JP, Laplanche JL, Pocchiari M, Zerr I, Knight RS, Will RG, van Duijn CM. PLoS One. Research support; Research artcle. 2015 Apr 28;10(4):e0123654. doi: 10.1371/journal.pone.0123654. ECollection 2014.

Severe toxicity under 5-fluorouracil-based therapy in a patient with colorectal cancer who harbors a germline codon-stop mutation in TYMS. Balboa-Beltrán E, Duran G, Lamas MJ, Carracedo A, Barros F. Mayo Clin Proc. Case report. 2015 Sep;90(9):1298-303. doi: 10.1016/j.mayocp.2015.05.005. Epub 2015 Jul 22.

Tetra-allelic SNPs: Informative forensic markers compiled from public whole-genome sequence data. Phillips C, Amigo J, Carracedo Á, Lareu MV. Forensic Sci Int Genet. Original research article. 2015 Nov;19:100-6. doi: 10.1016/j.fsigen.2015.06.011. Epub 2015 Jul 13.

RNA/DNA co-analysis from human skin and contact traces–results of a sixth collaborative EDNAP exercise. Haas C, Hanson E, Banemann R, Bento AM, Berti A, Carracedo Á, Courts C, De Cock G, Drobnic K, Fleming R, Franchi C, Gomes I, Hadzic G, Harbison SA, Hjort B, Hollard C, Hoff-Olsen P, Keyser C, Kondili A, Maroñas O, McCallum N, Miniati P, Morling N, Niederstätter H, Noël F, Parson W, Porto MJ, Roeder AD, Sauer E, Schneider PM, Shanthan G, Sijen T, Syndercombe Court D, Turanská M, van den Berge M, Vennemann M, Vidaki A, Zatkalíková L, Ballantyne J. Forensic Sci Int Genet. Original research article. 2015 May;16:139-47. doi: 10.1016/j.fsigen.2015.01.002. Epub 2015 Jan 7.

Forensic ancestry analysis with two capillary electrophoresis ancestry informative marker (AIM) panels: Results of a collaborative EDNAP exercise. Santos C, Fondevila M, Ballard D, Banemann R, Bento AM, Børsting C, Branicki W, Brisighelli F, Burrington M, Capal T, Chaitanya L, Daniel R, Decroyer V, England R, Gettings KB, Gross TE, Haas C, Harteveld J, Hoff-Olsen P, Hoffmann A, Kayser M, Kohler P, Linacre A, Mayr-Eduardoff M, McGovern C, Morling N, O’Donnell G, Parson W, Pascali VL, Porto MJ, Roseth A, Schneider PM, Sijen T, Stenzl V, Court DS, Templeton JE, Turanska M, Vallone PM, Oorschot RA, Zatkalikova L, Carracedo Á, Phillips C; EUROFORGEN-NoE Consortium. Forensic Sci Int Genet. Original research article. 2015 Nov;19:56-67. doi: 10.1016/j.fsigen.2015.06.004. Epub 2015 Jun 15.

Evolutionary history of the Azteca-like mariner transposons and their host ants. Palomeque T, Sanllorente O, Maside X, Vela J, Mora P, Torres MI, Periquet G, Lorite P. Naturwissenschaften. Original paper. 2015 Aug;102(7-8):44. doi: 10.1007/s00114-015-1294-3. Epub 2015 Jul 21.

Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young. Brion M, Sobrino B, Martinez M, Blanco-Verea A, Carracedo A. Forensic Sci Int Genet. Research support; Research paper. 2015 Sep;18:160-70. doi: 10.1016/j.fsigen.2015.07.010. Epub 2015 Jul 23.

Fine mapping of the myosin light chain kinase gene (MYLK) replicates the association with asthma in populations of Spanish descent. Acosta-Herrera M, Pino-Yanes M, Ma SF, Barreto-Luis A, Corrales A, Cumplido J, Pérez-Rodríguez E, Campo P, Eng C, García-Robaina JC, Quintela I, Villar J, Blanca M, Carracedo Á, Carrillo T, Garcia JG, Torgerson DG, Burchard EG, Flores C. J Allergy Clin Immunol. Letter to the editor. 2015 May 26. pii: S0091-6749(15)00587-4. doi: 10.1016/j.jaci.2015.04.025. [Epub ahead of print]

The loss of p16 expression worsens the prognosis of OSCC. Pérez-Sayáns M, Suárez-Peñaranda JM, Padín-Iruegas ME, Gayoso-Diz P, Reis-De Almeida M, Barros-Angueira F, Gándara-Vila P, Blanco-Carrión A, García-García A. Appl Immunohistochem Mol Morphol. Research article. 2015 Jan 21. [Epub ahead of print]. .

Spinocerebellar ataxia 36 (SCA36): Costa da Morte ataxia. Arias M, García-Murias M, Sobrido MJ. Neurologia. Revisión. 2015 Jan 13. pii: S0213-4853(14)00253-9. doi: 10.1016/j.nrl.2014.11.005. [Epub ahead of print]

Transfer of genetic therapy across human populations: Molecular targets for increasing patient coverage in repeat expansion diseases. Varela MA, Curtis HJ, Douglas AG, Hammond SM, O’Loughlin AJ, Sobrido MJ, Scholefield J, Wood MJ. Eur J Hum Genet. Article. 2015 May 20. doi: 10.1038/ejhg.2015.94. [Epub ahead of print].

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study. de Juan I, Palanca S, Domenech A, Feliubadaló L, Segura Á, Osorio A, Chirivella I, de la Hoya M, Sánchez AB, Infante M, Tena I, Díez O, Garcia-Casado Z, Vega A, Teulé À, Barroso A, Pérez P, Durán M, Carrasco E, Juan-Fita MJ, Murria R, Llop M, Barragan E, Izquierdo Á, Benítez J, Caldés T, Salas D, Bolufer P. Fam Cancer. Original article. 2015 May 31. [Epub ahead of print]. .

Genetic structure of the Kuwaiti population revealed by paternal lineages. Triki-Fendri S, Sánchez-Diz P, Rey-González D, Alfadhli S, Ayadi I, Ben Marzoug R, Carracedo Á, Rebai A. Am J Hum Biol. Original research article. 2015 Aug 21. doi: 10.1002/ajhb.22773. [Epub ahead of print].

Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion. Quintela I, Gomez-Guerrero L, Fernandez-Prieto M, Resches M, Barros F, Carracedo A. Am J Med Genet A. Clinical report. 2015 Aug 29. doi: 10.1002/ajmg.a.37292. [Epub ahead of print].

Inference of biogeographical ancestry across central regions of Eurasia. Bulbul O, Filoglu G, Zorlu T, Altuncul H, Freire-Aradas A, Söchtig J, Ruiz Y, Klintschar M, Triki-Fendri S, Rebai A, Phillips C, Lareu MV, Carracedo Á, Schneider PM. Int J Legal Med. Original article. 2015 Aug 20. [Epub ahead of print]. .

Screening of repetitive motifs inside the genome of the flat oyster (Ostrea edulis): Transposable elements and short tandem repeats. Vera M, Bello X, Álvarez-Dios JA, Pardo BG, Sánchez L, Carlsson J, Carlsson JE, Bartolomé C, Maside X, Martinez P. Mar Genomics. original research article. 2015 Sep 2. pii: S1874-7787(15)30022-2. doi: 10.1016/j.margen.2015.08.006. [Epub ahead of print]

Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis. Emilia Balboa-Beltrán; Raquel Cruz; Angel Carracedo; Francisco Barros. Medicine. 94 – 27, 07/2015.

Exon array analysis reveals genetic heterogeneity in atypical femoral fractures. A pilot study. Molecular and Cellular Biochemistry. Isabel Pérez-Núñez; José L Pérez-Castrillón; María T Zarrabeitia; Carmen García-Ibarbia; Laura Martínez-Calvo;José M Olmos; Laisa S Briongos; Javier Riancho; Victoria Camarero; Josep M Muñoz Vives; Raquel Cruz; José A Riancho. 07/2015. doi: <10.1007/s11010-015-2510-3>.

Exploration of SNP variants affecting hair colour prediction in Europeans.Int J Legal Med. 07/2015. Jens Söchtig; Chris Phillips; Olalla Maroñas; Antonio Gómez-Tato; Raquel Cruz; Jose Alvarez-Dios; María-Ángeles Casares de Cal; Yarimar Ruiz; Kristian Reich; Manuel Fondevila; Ángel Carracedo; María V Lareu. doi: <10.1007/s00414-015-1226·>.

Exome-wide pharmacogenomic analysis of response to thiopurines in inflammatory bowel disease patients. Current Pharmacogenomics and Personalized Medicine. William Zabala; Raquel Cruz; Manuel Barreiro-de Acosta; María Chaparro; Julián Panes; Ana Echarri · Maria Esteve; Daniel Carpio; Montserrat Andreu; Esther Garcia-Planella; Eugeni Domenech; Angel Carracedo · Javier Gisbert; Francisco Barros and on behalf of EIGA and ENEIDA investigators. 13 – 1, pp. 61 – 67. 2015.