Publicaciones 2013

Further development of forensic eye color predictive tests. Ruiz Y, Phillips C, Gomez-Tato A, Alvarez-Dios J, Casares de Cal M, Cruz R, Maroñas O, Söchtig J, Fondevila M, Rodriguez-Cid MJ, Carracedo A, Lareu MV. Forensic Sci Int Genet. Research support; Article. 2013 Jan;7(1):28-40. doi: 10.1016/j.fsigen.2012.05.009. Epub 2012 Jun 17. 2012 Jun 17. [Epub ahead of print].

CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families. Fachal L, Santamariña M, Blanco A, Carracedo A, Vega A. Clin Transl Oncol. 2013 Feb;15(2):164-5. doi: 10.1007/s12094-012-0967-z. Epub 2012 Nov 13. 2012 Nov 13. [Epub ahead of print].

Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide. García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, de Munain AL, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AA, Mora JS, Clarimón J; The C9ORF72 Spanish Study Group, Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A. Hum Mutat. Article. 2013 Jan;34(1):79-82. doi: 10.1002/humu.22211. Epub 2012 Oct 11. 2012 Aug 30. doi: 10.1002/humu.22211. [Epub ahead of print].

Hypothesized role of pregnancy hormones on HER2+ breast tumor development. Cruz GI, Martínez ME, Natarajan L, Wertheim BC, Gago-Dominguez M, Bondy M, Daneri-Navarro A, Meza-Montenegro MM, Gutierrez-Millan LE, Brewster A, Schedin P, Komenaka IK, Castelao JE, Carracedo A, Redondo CM, Thompson PA. Breast Cancer Res Treat. Research support. 2013 Jan;137(1):237-46. doi: 10.1007/s10549-012-2313-0. Epub 2012 Nov 8. 2012 Nov 8. [Epub ahead of print].

A Xq21.31 duplication without features of Prader-Willi syndrome. Castro-Gago M, Pérez-Gay L, Gómez-Lado C, Barros-Angueira F. Endocrine. 2013 Feb;43(1):238. doi: 10.1007/s12020-012-9738-4. 2012 Jul 5. [Epub ahead of print] No abstract available.

The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88. González M, Gomes V, López-Parra AM, Amorim A, Carracedo A, Sánchez-Diz P, Arroyo-Pardo E, Gusmão L. Eur J Hum Genet. Research support; Article. 2013 Mar;21(3):324-31. doi: 10.1038/ejhg.2012.167. Epub 2012 Aug 15. 2012 Aug 15. doi: 10.1038/ejhg.2012.167. [Epub ahead of print].

BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency. Fernandez-Rozadilla C, Brea-Fernández A, Bessa X, Alvarez-Urturi C, Abulí A, Clofent J, Payá A; The EPICOLON Consortium, Jover R, Xicola R, Llor X, Andreu M, Castells A, Carracedo A, Castellví-Bel S, Ruiz-Ponte C. (Salas A). Clin Genet. Letter; Case reports; Research support. 2013 Jul;84(1):94-6. doi: 10.1111/cge.12023. Epub 2012 Oct 12. 2012 Oct 12. doi: 10.1111/cge.12023. [Epub ahead of print].

Revision of the SNPforID 34-plex forensic ancestry test: Assay enhancements, standard reference sample genotypes and extended population studies. Fondevila M, Phillips C, Santos C, Freire Aradas A, Vallone PM, Butler JM, Lareu MV, Carracedo A. Forensic Sci Int Genet. 2013 Jan;7(1):63-74. doi: 10.1016/j.fsigen.2012.06.007. Epub 2012 Jun 29. 2012 Jun 29. doi:pii: S1872-4973(12)00140-8. 10.1016/j.fsigen.2012.06.007. [Epub ahead of print]

Pharmacogenomics in colorectal cancer: A genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. Fernandez-Rozadilla C, Cazier JB, Moreno V, Crous-Bou M, Guinó E, Durán G, Lamas MJ, López R, Candamio S, Gallardo E, Paré L, Baiget M, Páez D, López-Fernández LA, Cortejoso L, García MI, Bujanda L, González D, Gonzalo V, Rodrigo L, Reñé JM, Jover R, Brea-Fernández A, Andreu M, Bessa X, Llor X, Xicola R, Palles C, Tomlinson I, Castellví-Bel S, Castells A, Ruiz-Ponte C, Carracedo A. (Salas A). Pharmacogenomics J. Research support; Original article. 2013 Jun;13(3):209-217. doi: 10.1038/tpj.2012.2. Epub 2012 Feb 7. 2012 Feb 7. doi: 10.1038/tpj.2012.2. [Epub ahead of print].

Computational approaches for ligand discovery and design in class-A G protein-coupled receptors. Rodríguez D, Gutiérrez-de-Terán H. Curr Pharm Des. 2013;19(12):2216-36. 2012 Sep 24. [Epub ahead of print].

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals. Dunlop MG, Tenesa A, Farrington SM, Ballereau S, Brewster DH, Koessler T, Pharoah P, Schafmayer C, Hampe J, Völzke H, Chang-Claude J, Hoffmeister M, Brenner H, von Holst S, Picelli S, Lindblom A, Jenkins MA, Hopper JL, Casey G, Duggan D, Newcomb PA, Abulí A, Bessa X, Ruiz-Ponte C, Castellví-Bel S, Niittymäki I, Tuupanen S, Karhu A, Aaltonen L, Zanke B, Hudson T, Gallinger S, Barclay E, Martin L, Gorman M, Carvajal-Carmona L, Walther A, Kerr D, Lubbe S, Broderick P, Chandler I, Pittman A, Penegar S, Campbell H, Tomlinson I, Houlston RS. Gut. Research support; Original article. 2013 Jun;62(6):871-81. doi: 10.1136/gutjnl-2011-300537. Epub 2012 Apr 5. 2012 May 22. [Epub ahead of print].

BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Fernandez-Rozadilla C, Palles C, Carvajal-Carmona L, Peterlongo P, Nici C, Veneroni S, Pinheiro M, Teixeira MR, Moreno V, Lamas MJ, Baiget M, Lopez JL, Gonzalez D, Brea-Fernandez A, Clofent J, Bujanda L, Bessa X, Andreu M, Xicola R, Llor X, Jover R; The EPICOLON Consortium, Castells A, Castellvi-Bel S, Carracedo A, Tomlinson I, Ruiz-Ponte C (Salas A). Carcinogenesis. 2013 Feb;34(2):314-318. Epub 2012 Nov 16. 2012 Nov 25. [Epub ahead of print].

Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families. de Garibay GR, Díaz A, Gaviña B, Romero A, Garre P, Vega A, Blanco A, Tosar A, Díez O, Pérez-Segura P, Díaz-Rubio E, Caldés T, de la Hoya M. Eur J Hum Genet. Research support; Short report; Article. 2013 Aug;21(8):883-6. doi: 10.1038/ejhg.2012.268. Epub 2012 Dec 5. 2012 Dec 5. doi: 10.1038/ejhg.2012.268. [Epub ahead of print].

Genetic variants in genes related to lipid metabolism and atherosclerosis, dyslipidemia and atorvastatin response. Rodrigues AC, Sobrino B, Genvigir FD, Willrich MA, Arazi SS, Dorea EL, Bernik MM, Bertolami M, Faludi AA, Brion MJ, Carracedo A, Hirata MH, Hirata RD. Clin Chim Acta. 2013 Feb 18;417:8-11. doi: 10.1016/j.cca.2012.11.028. Epub 2012 Dec 13. 2012 Dec 13;417C:8-11. doi: 10.1016/j.cca.2012.11.028. [Epub ahead of print]

A genetic case-control study confirms the implication of SMAD7 and TNF locus in the development of proliferative vitreoretinopathy. Rojas J, Fernandez I, Pastor JC, Maclaren RE, Ramkissoon Y, Harsum S, Charteris DG, Van Meurs JC, Amarakoon S, Ruiz-Moreno JM, Rocha-Sousa A, Brion M, Carracedo A. Invest Ophthalmol Vis Sci. 2013 Mar 5;54(3):1665-78. doi: 10.1167/iovs.12-10931. 2012 Dec 20. pii: iovs.12-10931v1. doi: 10.1167/iovs.12-10931. [Epub ahead of print]

Vibrotactile neurofeedback balance training in patients with Parkinson’s disease: Reducing the number of falls. Rossi-Izquierdo M, Ernst A, Soto-Varela A, Santos-Pérez S, Faraldo-García A, Sesar-Ignacio A, Basta D. Gait Posture. Research support; Article. 2013 Feb;37(2):195-200. doi: 10.1016/j.gaitpost.2012.07.002. Epub 2012 Jul 28. 2012 Jul 27. [Epub ahead of print].

Molecular characterization of Cryptosporidium spp. isolated in humans in two different locations in Spain. Navarro-I-Martinez L, da Silva AJ, Llovo Taboada J, Del Águila C, Pieniazek NJ, Bornay-Llinares FJ. Enferm Infecc Microbiol Clin. Original. 2013 Oct;31(8):506-510. doi: 10.1016/j.eimc.2012.11.005. Epub 2012 Dec 27. 2012 Dec 26. pii: S0213-005X(12)00390-4. doi: 10.1016/j.eimc.2012.11.005. [Epub ahead of print]

Autosomal recessive congenital ichthyosis. Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Actas Dermosifiliogr. Revisión. 2013 May;104(4):270-284. doi: 10.1016/j.ad.2011.11.015. Epub 2012 Jul 15. 2012 Jul 13. [Epub ahead of print].

Morphometry of corpus callosum in Wwilliams syndrome: Shape as an index of neural development. Sampaio, A., Bouix, S., Sousa, N., Vasconcelos, C., Fernández, M., Shenton, M. & Gonçalves, Ó. Brain Struct Funct. Original article; Research support. 2013 May;218(3):711-20. doi: 10.1007/s00429-012-0423-4. Epub 2012 May 22. 2012 May 22. [Epub ahead of print].

Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome. Silbiger VN, Luchessi AD, Hirata RD, Lima-Neto LG, Cavichioli D, Carracedo A, Brión M, Dopazo J, García-García F, Dos Santos ES, Ramos RF, Sampaio MF, Armaganijan D, Sousa AG, Hirata MH. Clin Chim Acta. Article. 2013 Jun 5;421:184-90. doi: 10.1016/j.cca.2013.03.011. Epub 2013 Mar 25.

Enhanced localization of genetic samples through linkage-disequilibrium correction. Baran Y, Quintela I, Carracedo A, Pasaniuc B, Halperin E. Am J Hum Genet. Article. 2013 Jun 6;92(6):882-94. doi: 10.1016/j.ajhg.2013.04.023. Epub 2013 May 30. 2013 May 29. pii: S0002-9297(13)00210-3. doi: 10.1016/j.ajhg.2013.04.023. [Epub ahead of print]

Genetic susceptibility variants associated with colorectal cancer prognosis. Abulí A, Lozano JJ, Rodríguez-Soler M, Jover R, Bessa X, Muñoz J, Esteban-Jurado C, Fernández-Rozadilla C, Carracedo A, Ruiz-Ponte C, Cubiella J, Balaguer F, Bujanda L, Reñé JM, Clofent J, Morillas JD, Nicolás-Pérez D, Xicola RM, Llor X, Piqué JM, Andreu M, Castells A, Castellví-Bel S; for the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. (Salas A). Carcinogenesis. Research support; Article. 2013 Oct;34(10):2286-2291. Epub 2013 May 27. 2013 May 27. [Epub ahead of print].

Population genetics of 17 Y-STR markers in West Libya (Tripoli region). Triki-Fendri S, Sánchez-Diz P, Rey-González D, Ayadi I, Alfadhli S, Rebai A, Carracedo A. Forensic Sci Int Genet. 2013 May;7(3):e59-61. doi: 10.1016/j.fsigen.2013.02.002. Epub 2013 Mar 7.

Risk of cancer in cases of suspected lynch syndrome without germline mutation. Rodríguez-Soler M, Pérez-Carbonell L, Guarinos C, Zapater P, Castillejo A, Barberá VM, Juárez M, Bessa X, Xicola RM, Clofent J, Bujanda L, Balaguer F, Reñé JM, de-Castro L, Marín-Gabriel JC, Lanas A, Cubiella J, Nicolás-Pérez D, Brea-Fernández A, Castellví-Bel S, Alenda C, Ruiz-Ponte C, Carracedo A, Castells A, Andreu M, Llor X, Soto JL, Payá A, Jover R. Gastroenterology. 2013 May;144(5):926-932.e1; quiz e13-4. doi: 10.1053/j.gastro.2013.01.044. Epub 2013 Jan 24.

The CYP1A2 -163C>A polymorphism is associated with clozapine-induced generalized tonic-clonic seizures in Brazilian schizophrenia patients. Kohlrausch FB, Severino-Gama C, Lobato MI, Belmonte-de-Abreu P, Carracedo A, Hutz MH. Psychiat Res. Brief report; Research support; Article. 2013 Sep 30;209(2):242-5. doi: 10.1016/j.psychres.2013.02.030. Epub 2013 Apr 18. 2013 Apr 18. doi:pii: S0165-1781(13)00105-4. 10.1016/j.psychres.2013.02.030. [Epub ahead of print]

Development of a novel forensic STR multiplex for ancestry analysis and extended identity testin. Phillips C, Fernandez-Formoso L, Gelabert-Besada M, Garcia-Magariños M, Santos C, Fondevila M, Carracedo A, Lareu MV. Electrophoresis. Research support; Research article; Article. 2013 Apr;34(8):1151-62. doi: 10.1002/elps.201200621. Epub 2013 Mar 18.

New genetic associations in thiopurine-related bone marrow toxicity among inflammatory bowel disease patients. Zabala W, Cruz R, Barreiro-de Acosta M, Chaparro M, Panes J, Echarri A, Esteve M, Carpio D, Andreu M, García-Planella E, Domenech E, Carracedo A, Gisbert JP, Barros F; EIGA & ENEIDA investigators. Pharmacogenomics. Research support; Research article. 2013 Apr;14(6):631-40. doi: 10.2217/pgs.13.38.

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF. PLoS Genet. 2013 Mar;9(3):e1003349. doi: 10.1371/journal.pgen.1003349. Epub 2013 Mar 21.

New guidelines for the publication of genetic population data. Carracedo A, Butler JM, Gusmão L, Linacre A, Parson W, Roewer L, Schneider PM. Forensic Sci Int Genet. 2013 Feb;7(2):217-20. doi: 10.1016/j.fsigen.2013.01.001. Epub 2013 Feb 1. No abstract available.

A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. Fernandez-Rozadilla C, Cazier JB, Tomlinson IP, Carvajal-Carmona LG, Palles C, Lamas MJ, Baiget M, López-Fernández LA, Brea-Fernández A, Abulí A, Bujanda L, Clofent J, Gonzalez D, Xicola R, Andreu M, Bessa X, Jover R, Llor X; EPICOLON Consortium, Moreno V, Castells A, Carracedo Á, Castellvi-Bel S, Ruiz-Ponte C. BMC Genomics. Research support. 2013 Jan 26;14:55. doi: 10.1186/1471-2164-14-55.

Genetic variations in SMAD7 are associated with colorectal cancer risk in the colon cancer family registry. Jiang X, Castelao JE, Vandenberg D, Carracedo A, Redondo CM, Conti DV, Paredes Cotoré JP, Potter JD, Newcomb PA, Passarelli MN, Jenkins MA, Hopper JL, Gallinger S, Le Marchand L, Martínez ME, Ahnen DJ, Baron JA, Lindor NM, Haile RW, Gago-Dominguez M. PLoS One. Research support; Research article. 2013;8(4):e60464. doi: 10.1371/journal.pone.0060464. Epub 2013 Apr 3.

The genetic legacy of the pre-colonial period in contemporary Bolivians. Taboada-Echalar P, Alvarez-Iglesias V, Heinz T, Vidal-Bralo L, Gómez-Carballa A, Catelli L, Pardo-Seco J, Pastoriza A, Carracedo A, Torres-Balanza A, Rocabado O, Vullo C, Salas A. PLoS One. 2013;8(3):e58980. doi: 10.1371/journal.pone.0058980. Epub 2013 Mar 20.

Pharmacogenetic analysis of SNPs in genes involved in the pharmacokinetics and response to lopinavir/ritonavir therapy. López Aspiroz E, Figueroa SE, Hurtado GL, Guerrero RC, Hurlé AD, Carracedo A; Tormes Team. Curr Drug Metab. Article; Research support. 2013 Sep;14(7):729-37.

Eurasiaplex: A forensic SNP assay for differentiating European and South Asian ancestries. Phillips C, Aradas AF, Kriegel AK, Fondevila M, Bulbul O, Santos C, Rech FS, Carceles MD, Carracedo A, Schneider PM, Lareu MV. Forensic Sci Int Genet. Research support; Article. 2013 May;7(3):359-66. doi: 10.1016/j.fsigen.2013.02.010. Epub 2013 Mar 26.

Casework application of a stand-alone pentaplex assay of extended-ESS STRs. Barbaro A, Fernandez-Formoso L, Phillips C, Carracedo A, Lareu MV. Legal Med-Tokio. Brief communication; Article. 2013 Jul;15(4):217-21. doi: 10.1016/j.legalmed.2012.12.001. Epub 2013 Feb 4. 2013 Feb 1. pii: S1344-6223(12)00192-7. doi: 10.1016/j.legalmed.2012.12.001. [Epub ahead of print]

RNA/DNA co-analysis from human saliva and semen stains–results of a third collaborative EDNAP exercise. Haas C, Hanson E, Anjos MJ, Banemann R, Berti A, Borges E, Carracedo A, Carvalho M, Courts C, De Cock G, Dötsch M, Flynn S, Gomes I, Hollard C, Hjort B, Hoff-Olsen P, Hríbiková K, Lindenbergh A, Ludes B, Maroñas O, McCallum N, Moore D, Morling N, Niederstätter H, Noel F, Parson W, Popielarz C, Rapone C, Roeder AD, Ruiz Y, Sauer E, Schneider PM, Sijen T, Court DS, Sviežená B, Turanská M, Vidaki A, Zatkalíková L, Ballantyne J. Forensic Sci Int Genet. 2013 Feb;7(2):230-9. doi: 10.1016/j.fsigen.2012.10.011. Epub 2012 Nov 17.

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Neurogenetics. Research Support, Article. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20.

Breast cancer genes: Beyond BRCA1 and BRCA2. Filippini SE, Vega A. Front Biosci-Landmark. Research support; Article. 2013 Jun 1;18:1358-1372.

Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer. Kerns SL, Stock RG, Stone NN, Blacksburg SR, Rath L, Vega A, Fachal L, Gómez-Caamaño A, De Ruysscher D, Lammering G, Parliament M, Blackshaw M, Sia M, Cesaretti J, Terk M, Hixson R, Rosenstein BS, Ostrer H. Radiother Oncol. Research support; Original articles; Article. 2013 Jun;107(3):372-6. doi: 10.1016/j.radonc.2013.05.001. Epub 2013 May 26. 2013 May 26. pii: S0167-8140(13)00199-0. doi: 10.1016/j.radonc.2013.05.001. [Epub ahead of print]

Striking structural dynamism and nucleotide sequence variation of the transposon Galileo in the genome of Drosophila mojavensis. Marzo M, Bello X, Puig M, Maside X, Ruiz A. Mob DNA. Research support; Article. 2013 Feb 4;4(1):6. doi: 10.1186/1759-8753-4-6.

SNOMED CT module-driven clinical archetype management. Allones JL, Taboada M, Martinez D, Lozano R, Sobrido MJ. J Biomed Inform. Article. 2013 Jun;46(3):388-400. doi: 10.1016/j.jbi.2013.01.003. Epub 2013 Feb 9.

A glimpse into past, present, and future DNA sequencing. Morey M, Fernández-Marmiesse A, Castiñeiras D, Fraga JM, Couce ML, Cocho JA. Mol Genet Metab. Minireview. 2013 Sep-Oct;110(1-2):3-24. doi: 10.1016/j.ymgme.2013.04.024. Epub 2013 May 11. 2013 May 11. pii: S1096-7192(13)00154-6. doi: 10.1016/j.ymgme.2013.04.024. [Epub ahead of print]

An overview of STRUCTURE: applications, parameter settings, and supporting software. Porras-Hurtado L, Ruiz Y, Santos C, Phillips C, Carracedo A, Lareu MV. Front Genet. Review article. 2013 May 29;4:98. doi: 10.3389/fgene.2013.00098. eCollection 2013.

Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. Berndt SI, Skibola CF, Joseph V, Camp NJ, Nieters A, Wang Z, Cozen W, Monnereau A, Wang SS, Kelly RS, Lan Q, Teras LR, Chatterjee N, Chung CC, Yeager M, Brooks-Wilson AR, Hartge P, Purdue MP, Birmann BM, Armstrong BK, Cocco P, Zhang Y, Severi G, Zeleniuch-Jacquotte A, Lawrence C, Burdette L, Yuenger J, Hutchinson A, Jacobs KB, Call TG, Shanafelt TD, Novak AJ, Kay NE, Liebow M, Wang AH, Smedby KE, Adami HO, Melbye M, Glimelius B, Chang ET, Glenn M, Curtin K, Cannon-Albright LA, Jones B, Diver WR, Link BK, Weiner GJ, Conde L, Bracci PM, Riby J, Holly EA, Smith MT, Jackson RD, Tinker LF, Benavente Y, Becker N, Boffetta P, Brennan P, Foretova L, Maynadie M, McKay J, Staines A, Rabe KG, Achenbach SJ, Vachon CM, Goldin LR, Strom SS, Lanasa MC, Spector LG, Leis JF, Cunningham JM, Weinberg JB, Morrison VA, Caporaso NE, Norman AD, Linet MS, De Roos AJ, Morton LM, Severson RK, Riboli E, Vineis P, Kaaks R, Trichopoulos D, Masala G, Weiderpass E, Chirlaque MD, Vermeulen RC, Travis RC, Giles GG, Albanes D, Virtamo J, Weinstein S, Clavel J, Zheng T, Holford TR, Offit K, Zelenetz A, Klein RJ, Spinelli JJ, Bertrand KA, Laden F, Giovannucci E, Kraft P, Kricker A, Turner J, Vajdic CM, Ennas MG, Ferri GM, Miligi L, Liang L, Sampson J, Crouch S, Park JH, North KE, Cox A, Snowden JA, Wright J, Carracedo A, Lopez-Otin C, Bea S, Salaverria I, Martin-Garcia D, Campo E, Fraumeni JF Jr, de Sanjose S, Hjalgrim H, Cerhan JR, Chanock SJ, Rothman N, Slager SL. Nat Genet. Article. 2013 Aug;45(8):868-76. doi: 10.1038/ng.2652. Epub 2013 Jun 16.

Supercomplex assembly determines electron flux in the mitochondrial electron transport chain. Lapuente-Brun E, Moreno-Loshuertos R, Acín-Pérez R, Latorre-Pellicer A, Colás C, Balsa E, Perales-Clemente E, Quirós PM, Calvo E, Rodríguez-Hernández MA, Navas P, Cruz R, Carracedo Á, López-Otín C, Pérez-Martos A, Fernández-Silva P, Fernández-Vizarra E, Enríquez JA. Science. Reports; Article. 2013 Jun 28;340(6140):1567-70. doi: 10.1126/science.1230381.

Pharmacogenomics of anti-platelet therapy focused on peripheral blood cells of coronary arterial disease patients. Luchessi AD, Silbiger VN, Hirata RD, Lima-Neto LG, Cavichioli D, Iñiguez A, Bravo M, Bastos G, Sousa AG, Brión M, Carracedo A, Hirata MH. Clin Chim Acta. Research articles; Original research article. 2013 Oct 21;425C:9-17. doi: 10.1016/j.cca.2013.06.021. Epub 2013 Jul 4. 2013 Jul 4;425C:9-17. doi: 10.1016/j.cca.2013.06.021. [Epub ahead of print]

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: Inter-reviewer variability and promotion of minimum reporting guidelines. Walker LC, Whiley PJ, Houdayer C, Hansen TV, Vega A, Santamarina M, Blanco A, Fachal L, Southey MC, Lafferty A, Colombo M, De Vecchi G, Radice P, Spurdle AB; on behalf of the ENIGMA consortium. Hum Mutat. Research article. 2013 Oct;34(10):1424-31. doi: 10.1002/humu.22388. Epub 2013 Aug 13. 2013 Jul 24. doi: 10.1002/humu.22388. [Epub ahead of print].

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR. Nat Genet. Letter. 2013 Aug 28;45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4. 2013 Aug 4. doi: 10.1038/ng.2723. [Epub ahead of print].

Multilocus patterns of genetic variation across Cryptosporidium species suggest balancing selection at the gp60 locus. Abal-Fabeiro JL, Maside X, Bello X, Llovo J, Bartolomé C. Mol Ecol. Original article. 2013 Sep;22(18):4723-32. doi: 10.1111/mec.12425. Epub 2013 Aug 5. 2013 Aug 5. doi: 10.1111/mec.12425. [Epub ahead of print].

Analysis of PALB2 gene in BRCA1/BRCA2 negative spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. Blanco A, de la Hoya M, Osorio A, Diez O, Miramar MD, Infante M, Martinez-Bouzas C, Torres A, Lasa A, Llort G, Brunet J, Graña B, Perez Segura P, Garcia MJ, Gutiérrez-Enríquez S, Carracedo A, Tejada MI, Velasco EA, Calvo MT, Balmaña J, Benitez J, Caldés T, Vega A. PLoS One. Research article. 2013 Jul 23;8(7):e67538. doi: 10.1371/journal.pone.0067538. Print 2013.

Ancestry analysis reveals a predominant Native American component with moderate European admixture in Bolivians. Heinz T, Alvarez-Iglesias V, Pardo-Seco J, Taboada-Echalar P, Gómez-Carballa A, Torres-Balanza A, Rocabado O, Carracedo A, Vullo C, Salas A. Forensic Sci Int Genet. Short communication; Research support; Article. 2013 Sep;7(5):537-42. doi: 10.1016/j.fsigen.2013.05.012. Epub 2013 Jul 11.

Global population variability in Promega PowerPlex CS7, D6S1043, and Penta B STRs. Phillips C, Kind S, Fernandez-Formoso L, Gelabert-Besada M, Carracedo A, Lareu MV. Int J Legal Med. Short communication; Article. 2013 Sep;127(5):901-6. doi: 10.1007/s00414-013-0888-6. Epub 2013 Jul 11.

16p11.2 microdeletion associated to early onset benign childhood seizures. Castro-Gago M, Pérez-Gay L, Gómez-Lado C, Dacruz D, Barros-Angueira F. Rev Neurologia. Case reports; Letter. 2013 Jan 16;56(2):125-7.

Primary trimethylaminuria or fish odour syndrome: early diagnosis from primary care. Romero García A, Bermejo Pastor M, Benito Alonso E, Barros Angueira F, Galán Gómez E. An Pediatr (Barc). Letter. 2013 Apr;78(4):272-4. doi: 10.1016/j.anpedi.2012.08.008. Epub 2012 Oct 1.

Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility. Picelli S, Lorenzo Bermejo J, Chang-Claude J, Hoffmeister M, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S; Members of the EPICOLON Consortium (Gastrointestinal Oncology Group of the Spanish Gastroenterological Association):, Naccarati A, Pardini B, Vodickova L, Müller H, Talseth-Palmer BA, Stibbard G, Peterlongo P, Nici C, Veneroni S, Li L, Casey G, Tenesa A, Farrington SM, Tomlinson I, Moreno V, van Wezel T, Wijnen J, Dunlop M, Radice P, Scott RJ, Vodicka P, Ruiz-Ponte C, Brenner H, Buch S, Völzke H, Hampe J, Schafmayer C, Lindblom A. (Salas A). PLoS One. Research article. 2013 Sep 6;8(9):e72091.

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. t Hoen PA, Friedländer MR, Almlöf J, Sammeth M, Pulyakhina I, Anvar SY, Laros JF, Buermans HP, Karlberg O, Brännvall M; The GEUVADIS Consortium, van Ommen GJ, Estivill X, Guigó R, Syvänen AC, Gut IG, Dermitzakis ET, Antonorakis SE, Brazma A, Flicek P, Schreiber S, Rosenstiel P, Meitinger T, Strom TM, Lehrach H, Sudbrak R, Carracedo A, ‘t Hoen PA, Pulyakhina I, Anvar SY, Laros JF, Buermans HP, van Iterson M, Friedländer MR, Monlong J, Lizano E, Bertier G, Ferreira PG, Sammeth M, Almlöf J, Karlberg O, Brännvall M, Ribeca P, Griebel T, Beltran S, Gut M, Kahlem K, Lappalainen T, Giger T, Ongen H, Padioleau I, Kilpinen H, Gonzàlez-Porta M, Kurbatova N, Tikhonov A, Greger L, Barann M, Esser D, Häsler R, Wieland T, Schwarzmayr T, Sultan M, Amstislavskiy V, den Dunnen JT, van Ommen GJ, Gut IG, Guigó R, Estivill X, Syvänen AC, Dermitzakis ET, Lappalainen T. Nat Biotechnol. Article. 2013 Nov;31(11):1015-22. doi: 10.1038/nbt.2702. Epub 2013 Sep 15. 2013 Sep 15. doi: 10.1038/nbt.2702. [Epub ahead of print].

Transcriptome and genome sequencing uncovers functional variation in humans. Lappalainen T, Sammeth M, Friedländer MR, ‘t Hoen PA, Monlong J, Rivas MA, Gonzàlez-Porta M, Kurbatova N, Griebel T, Ferreira PG, Barann M, Wieland T, Greger L, van Iterson M, Almlöf J, Ribeca P, Pulyakhina I, Esser D, Giger T, Tikhonov A, Sultan M, Bertier G, MacArthur DG, Lek M, Lizano E, Buermans HP, Padioleau I, Schwarzmayr T, Karlberg O, Ongen H, Kilpinen H, Beltran S, Gut M, Kahlem K, Amstislavskiy V, Stegle O, Pirinen M, Montgomery SB, Donnelly P, McCarthy MI, Flicek P, Strom TM; Geuvadis Consortium, Lehrach H, Schreiber S, Sudbrak R, Carracedo A, Antonarakis SE, Häsler R, Syvänen AC, van Ommen GJ, Brazma A, Meitinger T, Rosenstiel P, Guigó R, Gut IG, Estivill X, Dermitzakis ET, Palotie A, Deleuze JF, Gyllensten U, Brunner H, Veltman J, Cambon-Thomsen A, Mangion J, Bentley D, Hamosh A. Nature. Research support. 2013 Sep 26;501(7468):506-11. doi: 10.1038/nature12531. Epub 2013 Sep 15.

Characterization of the dynamic events of GPCRs by automated computational simulations. Gutiérrez-de-Terán H, Bello X, Rodríguez D. Biochem Soc T. Research support; Review; Article. 2013 Feb 1;41(1):205-12. doi: 10.1042/BST20120287.

Mutagenesis and computational modeling of the human G protein-coupled receptor Y2 for neuropeptide Y and peptide YY. Xu B, Fällmar H, Boukharta L, Pruner J, Lundell I, Mohell N, Gutiérrez-de-Terán H, Aqvist J, Larhammar D. Biochemistry-US. Research support. 2013 Nov 12;52(45):7987-98. doi: 10.1021/bi400830c. Epub 2013 Oct 31. 2013 Oct 11. [Epub ahead of print].

A generalized model to estimate the statistical power in mitochondrial disease studies involving 2×k tables. Pardo-Seco J, Amigo J, González-Manteiga W, Salas A. PLoS One. Research article. 2013 Sep 27;8(9):e73567. doi: 10.1371/journal.pone.0073567.

Elevated 4-aminobiphenyl and 2,6-dimethylaniline hemoglobin adducts and increased risk of bladder cancer among lifelong nonsmokers–The Shanghai Bladder Cancer Study. Tao L, Day BW, Hu B, Xiang YB, Wang R, Stern MC, Gago-Dominguez M, Cortessis VK, Conti DV, Van Den Berg D, Pike MC, Gao YT, Yu MC, Yuan JM. Cancer Epidem Biomar. Research suppport. 2013 May;22(5):937-45. doi: 10.1158/1055-9965.EPI-12-1447. Epub 2013 Mar 28.

Impact of pharmacogenetics on CNS side effects related to efavirenz. Sánchez Martín A, Cabrera Figueroa S, Cruz Guerrero R, Hurtado LP, Hurlé AD, Carracedo Álvarez A. Pharmacogenomics. Research support; Research article. 2013 Jul;14(10):1167-78. doi: 10.2217/pgs.13.111.

Indian signatures in the westernmost edge of the European romani diaspora: new insight from mitogenomes. Gómez-Carballa A, Pardo-Seco J, Fachal L, Vega A, Cebey M, Martinón-Torres N, Martinón-Torres F, Salas A. PLoS One. Research article. 2013 Oct 15;8(10):e75397. doi: 10.1371/journal.pone.0075397.

Adverse events during the titration phase of interferon-beta in remitting-relapsing multiple sclerosis are not predicted by body mass index nor by pharmacodynamic biomarkers. Muñoz D, Escartín A, Dapena D, Coret F, Fernández-Uría D, Pérez D, Casanova B, Guijarro-Castro C, Munteis E, del-Campo Amigo M, Pego R, Calles C, García-Rey C, Monsalve N, Sánchez-Matienzo D. BMC Neurol. Research support. 2013 Jul 11;13:82. doi: 10.1186/1471-2377-13-82.

Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: A retrospective study. Querol L, Rojas-Garcia R, Casasnovas C, Sedano MJ, Muñoz-Blanco JL, Alberti MA, Paradas C, Sevilla T, Pardo J, Capablo JL, Sivera R, Guerrero A, Gutierrez-Rivas E, Illa I. Muscle Nerve. Research article; Research support; Article. 2013 Dec;48(6):870-6. doi: 10.1002/mus.23843. Epub 2013 Sep 11. 2013 Mar 20. doi: 10.1002/mus.23843. [Epub ahead of print].

Epilepsy training needs for Spanish neurologists: ARPE study results. Villanueva V, Arias-Gómez M, de la Peña-Mayor P, Pérez-Martínez DA. Epilepsy Behav. Multicenter study; Clinical research; Original research article. 2013 Jan;26(1):132-40. doi: 10.1016/j.yebeh.2012.08.004. Epub 2012 Dec 14.

Prevalence of essential tremor on Arosa island, Spain: A community-based, door-to-door survey. Seijo-Martínez M, Del Río MC, Alvarez JR, Prado RS, Salgado ET, Esquete JP, Sobrido-Gómez MJ. Tremor Other Hyperkinet Mov (N Y). Article. 2013 Sep 3;3. pii: tre-03-192-4299-1.

Quality of life and economic impact of refractory epilepsy in Spain: The ESPERA study. Villanueva V, Girón JM, Martín J, Hernández-Pastor LJ, Lahuerta J, Doz M, Cuesta M, Lévy-Bachelot L; Investigadores del estudio ESPERA (Rodriguez-Osorio X; López González FJ). Neurologia. Original articles. 2013 May;28(4):195-204. doi: 10.1016/j.nrl.2012.04.012. Epub 2012 Jun 27.

Postictal sneeze: An old but still under-recognized epileptic symptom. Rodríguez-Osorio X, López-González J, López-Ferreiro A, Domínguez-Lorenzo JM, Peleteiro-Fernández M. Seizure. Clinical letter. 2013 Dec;22(10):911-2. doi: 10.1016/j.seizure.2013.06.013. Epub 2013 Jul 27. 2013 Jul 26. pii: S1059-1311(13)00192-1. doi: 10.1016/j.seizure.2013.06.013. [Epub ahead of print]

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles. Osorio A, Bogliolo M, Fernández V, Barroso A, de la Hoya M, Caldés T, Lasa A, Ramón Y Cajal T, Santamariña M, Vega A, Quiles F, Lázaro C, Díez O, Fernández D, González-Sarmiento R, Durán M, Piqueras JF, Marín M, Pujol R, Surrallés J, Benítez J. Hum Mutat. Research support; Article. 2013 Dec;34(12):1615-8. doi: 10.1002/humu.22438. Epub 2013 Oct 7. 2013 Sep 11. doi: 10.1002/humu.22438. [Epub ahead of print].

Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria. García-Martínez FJ, Gutiérrez-González E, Alonso-González J, Vega A, Santamariña M, Rodríguez-Granados MT, Toribio J. Dermatology. Article. 2013;227(3):238-42. doi: 10.1159/000354387. Epub 2013 Oct 15. 2013 Oct 15. [Epub ahead of print].

Lamotrigine augmentation of serotonin reuptake inhibitors in severe and long-term treatment-resistant obsessive-compulsive disorder. Arrojo-Romero M, Tajes Alonso M, de Leon J. Case Rep Psychiatry. Case report. 2013;2013:612459. doi: 10.1155/2013/612459. Epub 2013 Jul 14.

Psychiatric comorbidity in patients from the addictive disorders assistance units of Galicia: The COPSIAD study. Pereiro C, Pino C, Flórez G, Arrojo M, Becoña E; COPSIAD Group. PLoS One. Research article. 2013 Jun 18;8(6):e66451.

Nosema ceranae (Microsporidia), a controversial 21st century honey bee pathogen. Higes M, Meana A, Bartolomé C, Botías C, Martín-Hernández R. Environ Microbiol Rep. Minireview. 2013 Feb;5(1):17-29. doi: 10.1111/1758-2229.12024. Epub 2013 Jan 18.

Genetic variants associated with addictive behavior in Colombian addicted and non-addicted to heroin or cocaine. Isaza, C.; Henao, J.; Beltran, L.; Porras, L. ; Gonzalez, M.; Cruz, R. y Carracedo, A. Colomb Medica. Article. 2013 Jan-Mar. Volume: 44  Issue: 1  Pages: 19-25.

Implication of the 3 ‘ Utr Region of TGF beta R1 with MSS HNPCC and sporadic colorectal cancer. Xicola, RM.; Doyle, BJ.; Rawson, J.; Garre, P.; Abuli, A.; Murugappan, S.; Lee, JY.; Bessa, X.; Clofent, J.; Bujanda, L.; Balaguer, F.; Castellvi-Bel, S.; Alenda, C.; Jover, R.; Ruiz-Ponte, C.; Syngal, S.; Andreu, M.; Carracedo, A.; Castells, A.; Ellis, NA.; Caldes, T.; Llor, X. Gastroenterology. Meeting Abstract. 2013 May. Volume: 144  Issue: 5  Supplement: 1  Pages: S25-S25.

The west african ethnicity of the enslaved in Jamaica. Newman, SP.; Deason, ML.; Pitsiladis, YP.; Salas, A.; Macaulay, VA. Slavery & Abolition. Article. 2013 Sep. Volume: 34  Issue: 3  Pages: 376-400  DOI: 10.1080/0144039X.2012.734054.

The role of a sodium ion binding site in the allosteric modulation of the A2A adenosine G protein-coupled receptor. Gutiérrez-de-Terán H, Massink A, Rodríguez D, Liu W, Han GW, Joseph JS, Katritch I, Heitman LH, Xia L, Ijzerman AP, Cherezov V, Katritch V, Stevens RC. Structure. Article. 2013 Dec 3;21(12):2175-85. doi: 10.1016/j.str.2013.09.020. Epub 2013 Nov 7.

The situation and management of Clostridium difficile infection in Spain: An opinion document. Bouza E, Marín M, Peláez T, Alcalá L; Group for Clostridium difficile Infection of the Spanish Society for Chemotherapy (Llovo-Taboada J, García-Garrote F, Pita Carretero J). Rev Esp Quim. Article. 2013 Sep;26(3):261-86.

First symposium of ichthyosis experts. Hernández-Martín A, Torrelo-Fernández A, de Lucas-Laguna R, Casco F, González-Sarmiento R, Vega A, Pedreira-Massa JL, de Unamuno-Pérez P, Larcher F, Arroyo I, Traupe H. Actas Dermosifiliogr. 2013 Dec;104(10):877-82. doi: 10.1016/j.ad.2012.11.018. Epub 2013 Jan 30.

Control of seizures in different stages of partial epilepsy: LACO-EXP, a Spanish retrospective study of lacosamide. Villanueva V, López FJ, Serratosa JM, González-Giraldez B, Campos D, Molins A, Rodriguez Uranga J, Mauri JA, Salas-Puig J, Toledo M, Sánchez-Alvarez JC, Moreno A, Serrano-Castro PJ, Saiz-Diaz RA, González de la Aleja J, de la Peña P, Asensio M. Epilepsy Behav. Article. 2013 Nov;29(2):349-56. doi: 10.1016/j.yebeh.2013.07.024. Epub 2013 Aug 30.

Advanced Parkinson’s disease: Clinical characteristics and treatment. Part II. Kulisevsky J, Luquin MR, Arbelo JM, Burguera JA, Carrillo F, Castro A, Chacón J, García-Ruiz PJ, Lezcano E, Mir P, Martinez-Castrillo JC, Martínez-Torres I, Puente V, Sesar A, Valldeoriola-Serra F, Yañez R. Neurologia. Article. 2013 Nov-Dec;28(9):558-83. doi: 10.1016/j.nrl.2013.05.002. Epub 2013 Jul 21.

Advanced Parkinson’s disease: Clinical characteristics and treatment (part 1). Kulisevsky J, Luquin MR, Arbelo JM, Burguera JA, Carrillo F, Castro A, Chacón J, García-Ruiz PJ, Lezcano E, Mir P, Martinez-Castrillo JC, Martínez-Torres I, Puente V, Sesar A, Valldeoriola-Serra F, Yañez R. Neurologia. Article. 2013 Oct;28(8):503-21. doi: 10.1016/j.nrl.2013.05.001. Epub 2013 Jul 13.

Role of DISC1 interacting proteins in schizophrenia risk from genome-wide analysis of missense SNPs. Costas J, Suárez-Rama JJ, Carrera N, Paz E, Páramo M, Agra S, Brenlla J, Ramos-Ríos R, Arrojo M.. Ann Hum Genet. Regular manuscript; Research support; Original article. 2013 Jul 30. doi: 10.1111/ahg.12037. [Epub ahead of print]