Common variant at 16p11.2 conferring risk of psychosis. Steinberg S, de Jong S, Mattheisen M, Costas J, Demontis D, Jamain S, Pietiläinen OP, Lin K, Papiol S, Huttenlocher J, Sigurdsson E, Vassos E, Giegling I, Breuer R, Fraser G, Walker N, Melle I, Djurovic S, Agartz I, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Olsen L, Hansen T, Ingason A, Pirinen M, Strengman E; GROUP, Hougaard DM, Orntoft T, Didriksen M, Hollegaard MV, Nordentoft M, Abramova L, Kaleda V, Arrojo M, Sanjuán J, Arango C, Etain B, Bellivier F, Méary A, Schürhoff F, Szoke A, Ribolsi M, Magni V, Siracusano A, Sperling S, Rossner M, Christiansen C, Kiemeney LA, Franke B, van den Berg LH, Veldink J, Curran S, Bolton P, Poot M, Staal W, Rehnstrom K, Kilpinen H, Freitag CM, Meyer J, Magnusson P, Saemundsen E, Martsenkovsky I, Bikshaieva I, Martsenkovska I, Vashchenko O, Raleva M, Paketchieva K, Stefanovski B, Durmishi N, Pejovic Milovancevic M, Lecic Tosevski D, Silagadze T, Naneishvili N, Mikeladze N, Surguladze S, Vincent JB, Farmer A, Mitchell PB, Wright A, Schofield PR, Fullerton JM, Montgomery GW, Martin NG, Rubino IA, van Winkel R, Kenis G, De Hert M, Réthelyi JM, Bitter I, Terenius L, Jönsson EG, Bakker S, van Os J, Jablensky A, Leboyer M, Bramon E, Powell J, Murray R, Corvin A, Gill M, Morris D, O’Neill FA, Kendler K, Riley B; Wellcome Trust Case Control Consortium 2, Craddock N, Owen MJ, O’Donovan MC, Thorsteinsdottir U, Kong A, Ehrenreich H, Carracedo A, Golimbet V, Andreassen OA, Børglum AD, Mors O, Mortensen PB, Werge T, Ophoff RA, Nöthen MM, Rietschel M, Cichon S, Ruggeri M, Tosato S, Palotie A, St Clair D, Rujescu D, Collier DA, Stefansson H, Stefansson K. Mol Psychiatr. Original article. 2014 Jan;19(1):108-14. doi: 10.1038/mp.2012.157. Epub 2012 Nov 20. 2012 Nov 20. doi:10.1038/mp.2012.157. [Epub ahead of print]
Comparison of the genetic background of different Colombian populations using the SNPforID 52plex identification panel. Ibarra A, Freire-Aradas A, Martínez M, Fondevila M, Burgos G, Camacho M, Ostos H, Suarez Z, Carracedo A, Santos S, Gusmão L. Int J Legal Med. Original article. 2014 Jan;128(1):19-25. doi: 10.1007/s00414-013-0858-z. Epub 2013 May 12. 2013 May 12. [Epub ahead of print].
Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. Bettencourt C, López-Sendón J, García-Caldentey J, Rizzu P, Bakker I, Shomroni O, Quintáns B, Dávila J, Bevova M, Sobrido MJ, Heutink P, de Yébenes J. Clin Genet. Original article. 2014 Feb;85(2):154-8. doi: 10.1111/cge.12133. Epub 2013 Mar 25. 2013 Feb 25. doi: 10.1111/cge.12133. [Epub ahead of print]
High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families. Brea-Fernández A, Cameselle-Teijeiro J, Alenda C, Fernández-Rozadilla C, Cubiella J, Clofent J, Reñé J, Anido U, Milá M, Balaguer F, Castells A, Castellvi-Bel S, Jover R, Carracedo A, Ruiz-Ponte C. Clin Genet. Short report. 2014 Jun;85(6):583-8. doi: 10.1111/cge.12232. Epub 2013 Jul 28. 2013 Jul 9. doi: 10.1111/cge.12232. [Epub ahead of print]
Allele frequencies of the five new European Standard Set (ESS) STRs and 15 established STRs in a Turkish population. Bulbul O, Fernandez-Formoso L, Phillips C, Altuncul H, Filoglu G, Lareu MV, Carracedo A. Forensic Sci Int Genet. Letter to the editor; Letter. 2014 Mar;9:e26. doi: 10.1016/j.fsigen.2013.05.006. Epub 2013 Jun 17. 2013 Jun 17. pii: S1872-4973(13)00117-8. doi: 10.1016/j.fsigen.2013.05.006. [Epub ahead of print]
Involvement of LCA5 in Leber Congenital Amaurosis and Retinitis Pigmentosa in the Spanish Population. Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FP, Carracedo A, Ayuso C. Ophthalmology. Original article. 2014 Jan;121(1):399-407. doi: 10.1016/j.ophtha.2013.08.028. Epub 2013 Oct 18. 2013 Oct 18. doi:pii: S0161-6420(13)00776-8. 10.1016/j.ophtha.2013.08.028. [Epub ahead of print]
Progressive heterotopic ossification: The arduousness of an accurate diagnosis. Fernández-Seara MJ, Dosil S, Couce ML, Barros-Angueira F, García-Magán C. J Pediatr. Case report. 2014 Jan;164(1):203-4. doi: 10.1016/j.jpeds.2013.08.005. Epub 2013 Sep 18. No abstract available. 2013 Sep 18. doi:pii: S0022-3476(13)00977-3. 10.1016/j.jpeds.2013.08.005. [Epub ahead of print]
About 1% of the breast and ovarian spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants. Gutiérrez-Enríquez S, Bonache S, Ruíz de Garibay G, Osorio A, Santamariña M, Ramón Y Cajal T, Esteban-Cardeñosa E, Tenés A, Yanowsky K, Barroso A, Montalban G, Blanco A, Cornet M, Gadea N, Infante M, Caldés T, Díaz-Rubio E, Balmaña J, Lasa A, Vega A, Benítez J, de la Hoya M, Diez O. Int J Cancer. 2014 May 1;134(9):2088-97. 2013 Oct 15. doi: 10.1002/ijc.28540. [Epub ahead of print]
Phaeohyphomycosis caused by Cladophialophora bantiana. Martínez-Lamas L, Alvarez M, Llovo J, Gené J, Cano J. Rev Iberoam Micol. Note; Article. 2014 Jul-Sep;31(3):203-6. doi: 10.1016/j.riam.2013.05.004. Epub 2013 May 28. 2013 May 28. doi:pii: S1130-1406(13)00048-X. 10.1016/j.riam.2013.05.004. [Epub ahead of print]
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. Fachal L, Rodríguez-Pazos L, Ginarte M, Carracedo A, Toribio J, Vega A. Br J Dermatol. Letter; Correspondence. 2014 Apr;170(4):980-2. doi: 10.1111/bjd.12757. 2013 Dec 17. doi: 10.1111/bjd.12757. [Epub ahead of print]
High-throughput genotyping assay for the large-scale genetic characterization of Cryptosporidium parasites from human and bovine samples. Abal-Fabeiro JL, Maside X, Llovo J, Bello X, Torres M, Treviño M, Moldes L, Muñoz A, Carracedo A, Bartolomé C. Parasitology. Research article. 2014 Apr;141(4):491-500. doi: 10.1017/S0031182013001807. Epub 2013 Nov 15. 2013 Nov 15:1-10. [Epub ahead of print].
A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer. Fernandez-Rozadilla C, Cazier JB, Tomlinson I, Brea-Fernández A, Lamas MJ, Baiget M, López-Fernández LA, Clofent J, Bujanda L, Gonzalez D, de Castro L; The EPICOLON Consortium, Hemminki K, Bessa X, Andreu M, Jover R, Xicola R, Llor X, Moreno V, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C. Hum Genet. Original investigaction. 2014 May;133(5):525-34. doi: 10.1007/s00439-013-1390-4. Epub 2013 Nov 12. 2013 Nov 12. [Epub ahead of print].
Genome-wide association study identifies multiple loci associated with bladder cancer risk. Figueroa JD, Ye Y, Siddiq A, Garcia-Closas M, Chatterjee N, Prokunina-Olsson L, Cortessis VK, Kooperberg C, Cussenot O, Benhamou S, Prescott J, Porru S, Dinney CP, Malats N, Baris D, Purdue M, Jacobs EJ, Albanes D, Wang Z, Deng X, Chung CC, Tang W, Bas Bueno-de-Mesquita H, Trichopoulos D, Ljungberg B, Clavel-Chapelon F, Weiderpass E, Krogh V, Dorronsoro M, Travis R, Tjønneland A, Brenan P, Chang-Claude J, Riboli E, Conti D, Gago-Dominguez M, Stern MC, Pike MC, Van Den Berg D, Yuan JM, Hohensee C, Rodabough R, Cancel-Tassin G, Roupret M, Comperat E, Chen C, De Vivo I, Giovannucci E, Hunter DJ, Kraft P, Lindstrom S, Carta A, Pavanello S, Arici C, Mastrangelo G, Kamat AM, Lerner SP, Barton Grossman H, Lin J, Gu J, Pu X, Hutchinson A, Burdette L, Wheeler W, Kogevinas M, Tardón A, Serra C, Carrato A, García-Closas R, Lloreta J, Schwenn M, Karagas MR, Johnson A, Schned A, Armenti KR, Hosain GM, Andriole G Jr, Grubb R 3rd, Black A, Ryan Diver W, Gapstur SM, Weinstein SJ, Virtamo J, Haiman CA, Landi MT, Caporaso N, Fraumeni JF Jr, Vineis P, Wu X, Silverman DT, Chanock S, Rothman N. Hum Mol Genet. Research support; Article. 2014 Mar 1;23(5):1387-98. doi: 10.1093/hmg/ddt519. Epub 2013 Oct 24. 2013 Nov 23. [Epub ahead of print].
High levels of genetic diversity in Nosema ceranae within Apis mellifera colonies. Gómez-Moracho T, Maside X, Martín-Hernández R, Higes M, Bartolomé C. Parasitology. Research article; Research support; Article. 2014 Apr;141(4):475-81. doi: 10.1017/S0031182013001790. Epub 2013 Nov 15. 2013 Nov 15:1-7. [Epub ahead of print].
Levetiracetam following liver and kidney failure in late-onset anticonvulsant hypersensitivity syndrome. Rodríguez-Osorio X, Pardo J, López-González FJ, Novoa D, Pintos E. J Clin Neurosci. Research support; Case report; Article. 2014 May;21(5):859-60. doi: 10.1016/j.jocn.2013.06.022. Epub 2013 Sep 4. 2013 Sep 4. pii: S0967-5868(13)00477-3. doi: 10.1016/j.jocn.2013.06.022. [Epub ahead of print]
Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease. Toustrup-Jensen MS, Einholm AP, Schack VR, Nielsen HN, Holm R, Sobrido MJ, Andersen JP, Clausen T, Vilsen B. J Biol Chem. Research support; Article. 2014 Feb 7;289(6):3186-97. doi: 10.1074/jbc.M113.543272. Epub 2013 Dec 19. 2013 Dec 19. [Epub ahead of print].
Absence of low frequency variants associated with schizophrenia at the ultraconserved non-coding region of TCF4. González-Penas J, Arrojo M, Páramo M, Paz E, Agra S, Ramos-Ríos R, Brenlla J, Costas J. Psychiat Res. Letter to the editor; Letter. 2014 Jan 30;215(1):255-7. doi: 10.1016/j.psychres.2013.10.008. Epub 2013 Oct 22. 2013 Oct 22. pii: S0165-1781(13)00656-2. doi: 10.1016/j.psychres.2013.10.008. [Epub ahead of print]
Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study. Pardini B, Verderio P, Pizzamiglio S, Nici C, Maiorana MV, Naccarati A, Vodickova L, Vymetalkova V, Veneroni S, Daidone MG, Ravagnani F, Bianchi T, Bujanda L, Carracedo A, Castells A, Ruiz-Ponte C, Morreau H, Howarth K, Jones A, Castellví-Bel S, Li L, Tomlinson I, Van Wezel T, Vodicka P, Radice P, Peterlongo P; EPICOLON Consortium. PLoS One. Article; Research support. 2014 Jan 21;9(1):e85538. doi: 10.1371/journal.pone.0085538. eCollection 2014.
Multiple sporadic colorectal cancers display a unique methylation phenotype. Gonzalo V, Lozano JJ, Alonso-Espinaco V, Moreira L, Muñoz J, Pellisé M, Castellví-Bel S, Bessa X, Andreu M, Xicola RM, Llor X, Ruiz-Ponte C, Carracedo A, Jover R, Castells A, Balaguer F; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association (Fernández-Rozadilla C). PLoS One. Article; Research article; Research support. 2014 Mar 18;9(3):e91033. doi: 10.1371/journal.pone.0091033. eCollection 2014.
Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): Delimitation and mechanism of three novel BRCA1 rearrangements. Fachal L, Blanco A, Santamariña M, Carracedo A, Vega A. PLoS One. Research support; Journal article; Research article. 2014 Mar 31;9(3):e93306. doi: 10.1371/journal.pone.0093306. eCollection 2014.
The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals. Abulí A, Bujanda L, Muñoz J, Buch S, Schafmayer C, Valeria Maiorana M, Veneroni S, van Wezel T, Liu T, Westers H, Esteban-Jurado C, Ocaña T, Piqué JM, Andreu M, Jover R, Carracedo A, Xicola RM, Llor X, Castells A; EPICOLON Consortium, Dunlop M, Hofstra R, Lindblom A, Wijnen J, Peterlongo P, Hampe J, Ruiz-Ponte C, Castellví-Bel S. PLoS One. Article; Research article; Research support. 2014 Apr 17;9(4):e95022. doi: 10.1371/journal.pone.0095022. eCollection 2014.
Global population variability in Qiagen Investigator HDplex STRs. Phillips C, Fernandez-Formoso L, Gelabert-Besada M, García-Magariños M, Amigo J, Carracedo A, Lareu MV. Forensic Sci Int Genet. Original Research Article; Original papers. 2014 Jan;8(1):36-43. doi: 10.1016/j.fsigen.2013.07.006. Epub 2013 Sep 7.
Building a forensic ancestry panel from the ground up: The EUROFORGEN Global AIM-SNP set. Phillips C, Parson W, Lundsberg B, Santos C, Freire-Aradas A, Torres M, Eduardoff M, Børsting C, Johansen P, Fondevila M, Morling N, Schneider P; the EUROFORGEN-NoE Consortium, Carracedo A, Lareu MV. Forensic Sci Int Genet. Original Research Article; Original papers. 2014 Jul;11:13-25. doi: 10.1016/j.fsigen.2014.02.012. Epub 2014 Feb 25. 2014 Feb 25;11C:13-25. doi: 10.1016/j.fsigen.2014.02.012. [Epub ahead of print]
New genes emerging for colorectal cancer predisposition. Esteban-Jurado C, Garre P, Vila M, Lozano JJ, Pristoupilova A, Beltrán S, Abulí A, Muñoz J, Balaguer F, Ocaña T, Castells A, Piqué JM, Carracedo A, Ruiz-Ponte C, Bessa X, Andreu M, Bujanda L, Caldés T, Castellví-Bel S. World J Gastroenterol. Article. 2014 Feb 28;20(8):1961-71. doi: 10.3748/wjg.v20.i8.1961.
Characterization of CYP1A2, CYP2C19, CYP3A4 and CYP3A5 polymorphisms in South Brazilians. Kohlrausch FB, Carracedo Á, Hutz MH. Mol Biol Rep. Research support; Original paper. 2014 Mar;41(3):1453-60. doi: 10.1007/s11033-013-2990-8. Epub 2014 Jan 18.
Y-chromosomal DNA analysis in french male lineages. Ramos-Luis E, Blanco-Verea A, Brión M, Van Huffel V, Sánchez-Diz P, Carracedo A. Forensic Sci Int Genet. Article. 2014 Mar;9:162-8. doi: 10.1016/j.fsigen.2013.12.008. Epub 2013 Dec 29.
Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome. Milá M, Ramos F, Tejada MI; Grupo AEGH/CIBERER (Carracedo A). Med Clin (Barc). Editorial material. 2014 Mar 4;142(5):219-25. doi: 10.1016/j.medcli.2013.05.025. Epub 2013 Jul 25.
FAS system deregulation in T-cell lymphoblastic lymphoma. Villa-Morales M, Cobos MA, González-Gugel E, Álvarez-Iglesias V, Martínez B, Piris MA, Carracedo A, Benítez J, Fernández-Piqueras J. Cell Death Dis. Research support; Article. 2014 Mar 6;5:e1110. doi: 10.1038/cddis.2014.83.
Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Brion M, Blanco-Verea A, Sobrino B, Santori M, Gil R, Ramos-Luis E, Martinez M, Amigo J, Carracedo A. Electrophoresis. Research article. 2014 Nov;35(21-22):3111-6. doi: 10.1002/elps.201400148. Epub 2014 Aug 6. 2014 Jun 30. doi: 10.1002/elps.201400148. [Epub ahead of print]
Alcohol consumption and survival after a breast cancer diagnosis: A literature-based meta-analysis and collaborative analysis of data for 29,239 cases. Ali AM, Schmidt MK, Bolla M, Wang Q, Gago-Dominguez M, Esteban Castelao J, Carracedo A, Muñoz Garzón V, Bojesen SE, Nordestgaard BG, Flyger H, Chang-Claude J, Vrieling A, Rudolph A, Seibold P, Nevanlinna H, Muranen TA, Aaltonen K, Blomqvist C, Matsuo K, Ito H, Iwata H, Horio A, John EM, Sherman M, Lissowska J, Figueroa JD, Garcia-Closas M, Anton-Culver H, Shah M, Hopper JL, Trichopoulou A, Bueno-de-Mesquita HB, Krogh V, Weiderpass E, Andersson A, Clavel-Chapelon F, Dossus L, Fagherazzi G, Peeters PH, Olsen A, Wishart GC, Easton DF, Borgquist S, Overvad K, Barricarte A, González CA, Sanchez MJ, Amiano Etxezarreta P, Riboli E, Key TJ, Pharoah PD. Cancer Epidemiol Biomarkers Prev. Journal Article; Research Support; Research article. 2014 Jun;23(6):934-45. doi: 10.1158/1055-9965.EPI-13-0901. Epub 2014 Mar 17. 2014 Mar 17. [Epub ahead of print].
Cerebral and cerebellar MRI volumes in Williams syndrome. Osório A, Soares JM, Prieto MF, Vasconcelos C, Fernandes C, Sousa S, Carracedo A, Gonçalves OF, Sampaio A. Res Dev Disabil. Original research article. 2014 Apr;35(4):922-8. doi: 10.1016/j.ridd.2013.12.014. Epub 2014 Feb 14.
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. Balboa-Beltran E, Fernández-Seara MJ, Pérez-Muñuzuri A, Lago R, García-Magán C, Couce ML, Sobrino B, Amigo J, Carracedo A, Barros F. J Med Genet. Short report; Article. 2014 Jul;51(7):475-8. doi: 10.1136/jmedgenet-2013-102020. Epub 2014 Apr 17. 2014 Apr 17. doi: 10.1136/jmedgenet-2013-102020. [Epub ahead of print]
Update of the 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. Editorial. 2014 May;10:A1-2. doi: 10.1016/j.fsigen.2014.01.004. Epub 2014 Feb 4.
A collaborative European exercise on mRNA-based body fluid/skin typing and interpretation of DNA and RNA results. van den Berge M, Carracedo A, Gomes I, Graham EA, Haas C, Hjort B, Hoff-Olsen P, Maroñas O, Mevåg B, Morling N, Niederstätter H, Parson W, Schneider PM, Court DS, Vidaki A, Sijen T. Forensic Sci Int Genet. Research support; Original paper; Original research article. 2014 May;10:40-8. doi: 10.1016/j.fsigen.2014.01.006. Epub 2014 Jan 28.
SNP variation with latitude: Analysis of the SNPforID 52-plex markers in north, mid-region and south Chilean populations. Moreno F, Freire-Aradas A, Phillips C, Fondevila M, Carracedo Á, Lareu MV. Forensic Sci Int Genet. Short communication. 2014 May;10:12-6. doi: 10.1016/j.fsigen.2013.12.009. Epub 2014 Jan 7.
Evaluating the role of mitochondrial DNA variation to the genetic predisposition to radiation-induced toxicity. Fachal L, Mosquera-Miguel A, Gómez-Caamaño A, Sánchez-García M, Calvo P, Lobato-Busto R, Salas A, Vega A. Radiother Oncol. Original article. 2014 May;111(2):199-205. doi: 10.1016/j.radonc.2014.03.012. Epub 2014 Apr 17. 2014 Apr 16. pii: S0167-8140(14)00135-2. doi: 10.1016/j.radonc.2014.03.012. [Epub ahead of print]
Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing. Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium. Clin Chem. Comparative study; Multicenter study; Research support; Article. 2014 Feb;60(2):341-52. doi: 10.1373/clinchem.2013.210658. Epub 2013 Nov 8.
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Colombo M, Blok MJ, Whiley P, Santamariña M, Gutiérrez-Enríquez S, Romero A, Garre P, Becker A, Smith LD, De Vecchi G, Brandão RD, Tserpelis D, Brown M, Blanco A, Bonache S, Menéndez M, Houdayer C, Foglia C, Fackenthal JD, Baralle D, Wappenschmidt B; kConFaB Investigators, Díaz-Rubio E, Caldés T, Walker L, Díez O, Vega A, Spurdle AB, Radice P, De La Hoya M. Hum Mol Genet. Research support; Article. 2014 Jul 15;23(14):3666-80. doi: 10.1093/hmg/ddu075. Epub 2014 Feb 25. 2014 Mar 3. [Epub ahead of print].
A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity. Barnett GC, Thompson D, Fachal L, Kerns S, Talbot C, Elliott RM, Dorling L, Coles CE, Dearnaley DP, Rosenstein BS, Vega A, Symonds P, Yarnold J, Baynes C, Michailidou K, Dennis J, Tyrer JP, Wilkinson JS, Gómez-Caamaño A, Tanteles GA, Platte R, Mayes R, Conroy D, Maranian M, Luccarini C, Gulliford SL, Sydes MR, Hall E, Haviland J, Misra V, Titley J, Bentzen SM, Pharoah PD, Burnet NG, Dunning AM, West CM. Radiother Oncol. Research support; Original article. 2014 May;111(2):178-85. doi: 10.1016/j.radonc.2014.02.012. Epub 2014 Apr 28. 2014 Apr 28. pii: S0167-8140(14)00108-X. doi: 10.1016/j.radonc.2014.02.012. [Epub ahead of print]
A global analysis of Y-chromosomal haplotype diversity for 23 STR loci. Purps J, Siegert S, Willuweit S, Nagy M, Alves C, Salazar R, Angustia SM, Santos LH, Anslinger K, Bayer B, Ayub Q, Wei W, Xue Y, Tyler-Smith C, Bafalluy MB, Martínez-Jarreta B, Egyed B, Balitzki B, Tschumi S, Ballard D, Court DS, Barrantes X, Bäßler G, Wiest T, Berger B, Niederstätter H, Parson W, Davis C, Budowle B, Burri H, Borer U, Koller C, Carvalho EF, Domingues PM, Chamoun WT, Coble MD, Hill CR, Corach D, Caputo M, D’Amato ME, Davison S, Decorte R, Larmuseau MH, Ottoni C, Rickards O, Lu D, Jiang C, Dobosz T, Jonkisz A, Frank WE, Furac I, Gehrig C, Castella V, Grskovic B, Haas C, Wobst J, Hadzic G, Drobnic K, Honda K, Hou Y, Zhou D, Li Y, Hu S, Chen S, Immel UD, Lessig R, Jakovski Z, Ilievska T, Klann AE, García CC, de Knijff P, Kraaijenbrink T, Kondili A, Miniati P, Vouropoulou M, Kovacevic L, Marjanovic D, Lindner I, Mansour I, Al-Azem M, Andari AE, Marino M, Furfuro S, Locarno L, Martín P, Luque GM, Alonso A, Miranda LS, Moreira H, Mizuno N, Iwashima Y, Neto RS, Nogueira TL, Silva R, Nastainczyk-Wulf M, Edelmann J, Kohl M, Nie S, Wang X, Cheng B, Núñez C, Pancorbo MM, Olofsson JK, Morling N, Onofri V, Tagliabracci A, Pamjav H, Volgyi A, Barany G, Pawlowski R, Maciejewska A, Pelotti S, Pepinski W, Abreu-Glowacka M, Phillips C, Cárdenas J, Rey-Gonzalez D, Salas A, Brisighelli F, Capelli C, Toscanini U, Piccinini A, Piglionica M, Baldassarra SL, Ploski R, Konarzewska M, Jastrzebska E, Robino C, Sajantila A, Palo JU, Guevara E, Salvador J, Ungria MC, Rodriguez JJ, Schmidt U, Schlauderer N, Saukko P, Schneider PM, Sirker M, Shin KJ, Oh YN, Skitsa I, Ampati A, Smith TG, Calvit LS, Stenzl V, Capal T, Tillmar A, Nilsson H, Turrina S, De Leo D, Verzeletti A, Cortellini V, Wetton JH, Gwynne GM, Jobling MA, Whittle MR, Sumita DR, Wola?ska-Nowak P, Yong RY, Krawczak M, Nothnagel M, Roewer L. Forensic Sci Int Genet. Original paper. 2014 Sep;12:12-23. doi: 10.1016/j.fsigen.2014.04.008. Epub 2014 Apr 28. 2014 Apr 28;12C:12-23. doi: 10.1016/j.fsigen.2014.04.008. [Epub ahead of print]
Disease due to lysosomal deposits with differential peculiarities: type II GM1 gangliosidosis. Amado-Puentes A, Blanco-Barca Ó, Coll MJ, Sobrido MJ. Rev Neurol. Letter; Correspondence. 2014 Apr 16;58(8):382-3.
Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations. European Network of National Networks studying Gene-Environment Interactions in Schizophrenia (EU-GEI), van Os J, Rutten BP, Myin-Germeys I, Delespaul P, Viechtbauer W, van Zelst C, Bruggeman R, Reininghaus U, Morgan C, Murray RM, Di Forti M, McGuire P, Valmaggia LR, Kempton MJ, Gayer-Anderson C, Hubbard K, Beards S, Stilo SA, Onyejiaka A, Bourque F, Modinos G, Tognin S, Calem M, O’Donovan MC, Owen MJ, Holmans P, Williams N, Craddock N, Richards A, Humphreys I, Meyer-Lindenberg A, Leweke FM, Tost H, Akdeniz C, Rohleder C, Bumb JM, Schwarz E, Alptekin K, Üçok A, Saka MC, Atba?o?lu EC, Gülöksüz S, Gumus-Akay G, Cihan B, Karada? H, Soygür H, Cankurtaran E?, Ulusoy S, Akdede B, Binbay T, Ayer A, Noyan H, Karaday? G, Akturan E, Ula? H, Arango C, Parellada M, Bernardo M, Sanjuán J, Bobes J, Arrojo M, Santos JL, Cuadrado P, Rodríguez Solano JJ, Carracedo A, García Bernardo E, Roldán L, López G, Cabrera B, Cruz S, Díaz Mesa EM, Pouso M, Jiménez E, Sánchez T, Rapado M, González E, Martínez C, Sánchez E, Olmeda MS, de Haan L, Velthorst E, van der Gaag M, Selten JP, van Dam D, van der Ven E, van der Meer F, Messchaert E, Kraan T, Burger N, Leboyer M, Szoke A, Schürhoff F, Llorca PM, Jamain S, Tortelli A, Frijda F, Vilain J, Galliot AM, Baudin G, Ferchiou A, Richard JR, Bulzacka E, Charpeaud T, Tronche AM, De Hert M, van Winkel R, Decoster J, Derom C, Thiery E, Stefanis NC, Sachs G, Aschauer H, Lasser I, Winklbaur B, Schlögelhofer M, Riecher-Rössler A, Borgwardt S, Walter A, Harrisberger F, Smieskova R, Rapp C, Ittig S, Soguel-dit-Piquard F, Studerus E, Klosterkötter J, Ruhrmann S, Paruch J, Julkowski D, Hilboll D, Sham PC, Cherny SS, Chen EY, Campbell DD, Li M, Romeo-Casabona CM, Emaldi Cirión A, Urruela Mora A, Jones P, Kirkbride J, Cannon M, Rujescu D, Tarricone I, Berardi D, Bonora E, Seri M, Marcacci T, Chiri L, Chierzi F, Storbini V, Braca M, Minenna MG, Donegani I, Fioritti A, La Barbera D, La Cascia CE, Mulè A, Sideli L, Sartorio R, Ferraro L, Tripoli G, Seminerio F, Marinaro AM, McGorry P, Nelson B, Amminger GP, Pantelis C, Menezes PR, Del-Ben CM, Gallo Tenan SH, Shuhama R, Ruggeri M, Tosato S, Lasalvia A, Bonetto C, Ira E, Nordentoft M, Krebs MO, Barrantes-Vidal N, Cristóbal P, Kwapil TR, Brietzke E, Bressan RA, Gadelha A, Maric NP, Andric S, Mihaljevic M, Mirjanic T. Schizophr Bull. Article. 2014 Jul;40(4):729-36. doi: 10.1093/schbul/sbu069. Epub 2014 May 24.
New turns from old STaRs: Enhancing the capabilities of forensic short tandem repeat analysis. Phillips C, Gelabert-Besada M, Fernandez-Formoso L, García-Magariños M, Santos C, Fondevila M, Ballard D, Syndercombe Court D, Carracedo A, Victoria Lareu M. Electrophoresis. Review. 2014 Nov;35(21-22):3173-87. doi: 10.1002/elps.201400095. Epub 2014 Jul 16. 2014 May 31. doi: 10.1002/elps.201400095. [Epub ahead of print]
The human early-life exposome (HELIX): project rationale and design. Vrijheid M, Slama R, Robinson O, Chatzi L, Coen M, van den Hazel P, Thomsen C, Wright J, Athersuch TJ, Avellana N, Basagaña X, Brochot C, Bucchini L, Bustamante M, Carracedo A, Casas M, Estivill X, Fairley L, van Gent D, Gonzalez JR, Granum B, Gražulevičienė R, Gutzkow KB, Julvez J, Keun HC, Kogevinas M, McEachan RR, Meltzer HM, Sabidó E, Schwarze PE, Siroux V, Sunyer J, Want EJ, Zeman F, Nieuwenhuijsen MJ. Environ Health Perspect. Research support. 2014 Jun;122(6):535-44. doi: 10.1289/ehp.1307204. Epub 2014 Mar 6.
Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers. Marcheco-Teruel B, Parra EJ, Fuentes-Smith E, Salas A, Buttenschøn HN, Demontis D, Torres-Español M, Marín-Padrón LC, Gómez-Cabezas EJ, Alvarez-Iglesias V, Mosquera-Miguel A, Martínez-Fuentes A, Carracedo A, Børglum AD, Mors O. PLoS Genet. Research support; Research article. 2014 Jul 24;10(7):e1004488. doi: 10.1371/journal.pgen.1004488. eCollection 2014.
HLA-DRB1*15:01 allele protects from asthma susceptibility. Pino-Yanes M, Corrales A, Acosta-Herrera M, Pérez-Rodríguez E, Cumplido J, Campo P, Barreto-Luis A, Sánchez-García F, Felipe T, Sánchez-Machín I, Quintela I, García-Robaina JC, Villar J, Blanca M, Carracedo A, Carrillo T, Flores C. J Allergy Clin Immunol. Letter to the editor. 2014 Nov;134(5):1201-3. doi: 10.1016/j.jaci.2014.05.031. Epub 2014 Jul 14. 2014 Jul 14. pii: S0091-6749(14)00770-2. doi: 10.1016/j.jaci.2014.05.031. [Epub ahead of print]
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Arking DE, Pulit SL, Crotti L, van der Harst P, Munrsoe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dörr M, Müller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikäinen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai ÅT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J; CARe Consortium; COGENT Consortium, Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polašek O, Wright AF, Griffin M, Daly MJ; DCCT/EDIC, Arnar DO, Hólm H, Thorsteinsdottir U; eMERGE Consortium, Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O’Donnell CJ, Yin X, Bobbo M, D’Adamo AP, Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R, Hoffmann P, Jöckel KH, Kälsch H, Nöthen MM; HRGEN Consortium, den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, del Greco M F, Fuchsberger C, O’Connell JR, Lee WK, Watt GC, Campbell H, Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Mateo Leach I, Navis G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L, Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orrú M, Schlessinger D, Uda M, Markus MR, Völker U, Snieder H, Spector TD, Ärnlöv J, Lind L, Sundström J, Syvänen AC, Kivimaki M39, Kähönen M, Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Mühleisen TW, Pramstaller PP, Lehtimäki TJ, Paterson AD, Parsa A, Liu Y, van Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kääb S, Chakravarti A, Ackerman MJ, Pfeufer A, de Bakker PI, Newton-Cheh C. Nat Genet. Article. 2014 Aug;46(8):826-36. doi: 10.1038/ng.3014. Epub 2014 Jun 22.
A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1. Fachal L, Gómez-Caamaño A, Barnett GC, Peleteiro P, Carballo AM, Calvo-Crespo P, Kerns SL, Sánchez-García M, Lobato-Busto R, Dorling L, Elliott RM, Dearnaley DP, Sydes MR, Hall E, Burnet NG, Carracedo Á, Rosenstein BS, West CM, Dunning AM, Vega A. Nat Genet. Article; Research support; Letter. 2014 Aug;46(8):891-4. doi: 10.1038/ng.3020. Epub 2014 Jun 29.
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families. Blanco A, Gutiérrez-Enríquez S, Santamariña M, Montalban G, Bonache S, Balmaña J, Carracedo A, Diez O, Vega A. Breast Cancer Res Treat. Research suppport; Article. 2014 Aug;147(1):133-43. doi: 10.1007/s10549-014-3078-4. Epub 2014 Aug 3.
The molecular characterisation of a depurinated trial dna sample can be a model to understand the reliability of the results in forensic genetics. Fattorini P, Previdere C, Sorçaburu-Cigliero S, Marrubini G, Alù M, Barbaro A, Carnevali E, Carracedo A, Casarino L, Consoloni L, Corato S, Domenici R, Fabbri M, Giardina E, Grignani P, Baldassarra SL, Moratti M, Pelotti S, Piccinini A, Pitacco P, Plizza L, Resta N, Ricci U, Robino C, Salvaderi L, Scarnicci F, Schneider PM, Seidita G, Trizzino L, Turchi C, Turrina S, Vatta P, Vecchiotti C, Verzeletti A, Stefano FD. Electrophoresis. Research article. 2014 Nov;35(21-22):3134-44. doi: 10.1002/elps.201400141. Epub 2014 Oct 31. 2014 Aug 29. doi: 10.1002/elps.201400141. [Epub ahead of print]
Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain. Ivorra JL, Rivero O, Costas J, Iniesta R, Arrojo M, Ramos-Ríos R, Carracedo A, Palomo T, Rodriguez-Jimenez R, Cervilla J, Gutiérrez B, Molina E, Arango C, Alvarez M, Pascual JC, Pérez V, Saiz PA, García-Portilla MP, Bobes J, González-Pinto A, Zorrilla I, Haro JM, Bernardo M, Baca-García E, González JC, Hoenicka J, Moltó MD, Sanjuán J. Schizophr Res. Research support; Original research article. 2014 Oct;159(1):107-13. doi: 10.1016/j.schres.2014.07.004. Epub 2014 Aug 12.
Exploring iris colour prediction and ancestry inference in admixed populations of South America. Freire-Aradas A, Ruiz Y, Phillips C, Maroñas O, Söchtig J, Tato AG, Dios JÁ, de Cal MC, Silbiger VN, Luchessi AD, Luchessi AD, Chiurillo MA, Carracedo A, Lareu MV. Forensic Sci Int Genet. Original papers. 2014 Nov;13:3-9. doi: 10.1016/j.fsigen.2014.06.007. Epub 2014 Jul 3.
Development of a forensic skin colour predictive test. Maroñas O, Phillips C, Söchtig J, Gomez-Tato A, Cruz R, Alvarez-Dios J, de Cal MC, Ruiz Y, Fondevila M, Carracedo A, Lareu MV. Forensic Sci Int Genet. Research support; Original research article. 2014 Nov;13:34-44. doi: 10.1016/j.fsigen.2014.06.017. Epub 2014 Jul 10.
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease. Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, Del Campo M, Borregan M, Sobrino B, Amigo J, García-Dorado D, Evangelista A, Carracedo A, Brion M. Clin Chim Acta. Original research article. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19.
Virulence and polar tube protein genetic diversity of Nosema ceranae (Microsporidia) field isolates from Northern and Southern Europe in honeybees (Apis mellifera iberiensis). Van der Zee R, Gómez-Moracho T, Pisa L, Sagastume S, García-Palencia P, Maside X, Bartolomé C, Martín-Hernández R, Higes M. Environ Microbiol Rep. Research support. 2014 Aug;6(4):401-13. doi: 10.1111/1758-2229.12133. Epub 2014 Jan 13.
Holistic screening of collapsing honey bee colonies in Spain: a case study. Cepero A, Ravoet J, Gómez-Moracho T, Bernal JL, Del Nozal MJ, Bartolomé C, Maside X, Meana A, González-Porto AV, de Graaf DC, Martín-Hernández R, Higes M. BMC Res Notes. Research support; Research article. 2014 Sep 15;7:649. doi: 10.1186/1756-0500-7-649.
Evidence for the persistence of an active endogenous retrovirus (ERVE) in humans. Naveira H, Bello X, Abal-Fabeiro JL, Maside X. Genetica. Article. 2014 Oct;142(5):451-60. doi: 10.1007/s10709-014-9789-y. Epub 2014 Sep 6.
No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort. Fachal L, Gómez-Caamaño A, Alvarez Iglesias V, Gómez Carballa A, Calvo P, Salas A, Vega A. J Hum Genet. Short communication; Journal article; Research support; Article. 2014 Jul;59(7):411-4. doi: 10.1038/jhg.2014.46. Epub 2014 Jun 5.
Toward male individualization with rapidly mutating y-chromosomal short tandem repeats. Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ, Ayub Q, Balažic J, Ballantyne J, Ballard DJ, Berger B, Bobillo C, Bouabdellah M, Burri H, Capal T, Caratti S, Cárdenas J, Cartault F, Carvalho EF, Carvalho M, Cheng B, Coble MD, Comas D, Corach D, D’Amato ME, Davison S, de Knijff P, De Ungria MC, Decorte R, Dobosz T, Dupuy BM, Elmrghni S, Gliwiński M, Gomes SC, Grol L, Haas C, Hanson E, Henke J, Henke L, Herrera-Rodríguez F, Hill CR, Holmlund G, Honda K, Immel UD, Inokuchi S, Jobling MA, Kaddura M, Kim JS, Kim SH, Kim W, King TE, Klausriegler E, Kling D, Kovačević L, Kovatsi L, Krajewski P, Kravchenko S, Larmuseau MH, Lee EY, Lessig R, Livshits LA, Marjanović D, Minarik M, Mizuno N, Moreira H, Morling N, Mukherjee M, Munier P, Nagaraju J, Neuhuber F, Nie S, Nilasitsataporn P, Nishi T, Oh HH, Olofsson J, Onofri V, Palo JU, Pamjav H, Parson W, Petlach M, Phillips C, Ploski R, Prasad SP, Primorac D, Purnomo GA, Purps J, Rangel-Villalobos H, Rębała K, Rerkamnuaychoke B, Gonzalez DR, Robino C, Roewer L, Rosa A, Sajantila A, Sala A, Salvador JM, Sanz P, Schmitt C, Sharma AK, Silva DA, Shin KJ, Sijen T, Sirker M, Siváková D, Skaro V, Solano-Matamoros C, Souto L, Stenzl V, Sudoyo H, Syndercombe-Court D, Tagliabracci A, Taylor D, Tillmar A, Tsybovsky IS, Tyler-Smith C, van der Gaag KJ, Vanek D, Völgyi A, Ward D, Willemse P, Yap EP, Yong RY, Pajnič IZ, Kayser M. Hum Mutat. Research support; Research article; Article. 2014 Aug;35(8):1021-32. doi: 10.1002/humu.22599. Epub 2014 Jul 14.
Dietary sources of N-nitroso compounds and bladder cancer risk: findings from the Los Angeles bladder cancer study. Catsburg CE, Gago-Dominguez M, Yuan JM, Castelao JE, Cortessis VK, Pike MC, Stern MC. Int J Cancer. Research support. 2014 Jan 1;134(1):125-35. doi: 10.1002/ijc.28331. Epub 2013 Jul 15.
Comprehensive analyses of DNA repair pathways, smoking and bladder cancer risk in Los Angeles and Shanghai. Corral R, Lewinger JP, Van Den Berg D, Joshi AD, Yuan JM, Gago-Dominguez M, Cortessis VK, Pike MC, Conti DV, Thomas DC, Edlund CK, Gao YT, Xiang YB, Zhang W, Su YC, Stern MC. Int J Cancer. Research support; Article. 2014 Jul 15;135(2):335-47. doi: 10.1002/ijc.28693. Epub 2014 Jan 13.
Genome-wide interaction study of smoking and bladder cancer risk. Figueroa JD, Han SS, Garcia-Closas M, Baris D, Jacobs EJ, Kogevinas M, Schwenn M, Malats N, Johnson A, Purdue MP, Caporaso N, Landi MT, Psrokunina-Olsson L, Wang Z, Hutchinson A, Burdette L, Wheeler W, Vineis P, Siddiq A, Cortessis VK, Kooperberg C, Cussenot O, Benhamou S, Prescott J, Porru S, Bueno-de-Mesquita HB, Trichopoulos D, Ljungberg B, Clavel-Chapelon F, Weiderpass E, Krogh V, Dorronsoro M, Travis R, Tjønneland A, Brenan P, Chang-Claude J, Riboli E, Conti D, Gago-Dominguez M, Stern MC, Pike MC, Van Den Berg D, Yuan JM, Hohensee C, Rodabough R, Cancel-Tassin G, Roupret M, Comperat E, Chen C, De Vivo I, Giovannucci E, Hunter DJ, Kraft P, Lindstrom S, Carta A, Pavanello S, Arici C, Mastrangelo G, Karagas MR, Schned A, Armenti KR, Hosain GM, Haiman CA, Fraumeni JF Jr, Chanock SJ, Chatterjee N, Rothman N, Silverman DT. Carcinogenesis. Article; Research support. 2014 Aug;35(8):1737-44. doi: 10.1093/carcin/bgu064. Epub 2014 Mar 24.
The 19q12 bladder cancer GWAS signal: association with cyclin E function and aggressive disease. Fu YP, Kohaar I, Moore LE, Lenz P, Figueroa JD, Tang W, Porter-Gill P, Chatterjee N, Scott-Johnson A, Garcia-Closas M, Muchmore B, Baris D, Paquin A, Ylaya K, Schwenn M, Apolo AB, Karagas MR, Tarway M, Johnson A, Mumy A, Schned A, Guedez L, Jones MA, Kida M, Hosain GM, Malats N, Kogevinas M, Tardon A, Serra C, Carrato A, Garcia-Closas R, Lloreta J, Wu X, Purdue M, Andriole GL Jr, Grubb RL rd, Black A, Landi MT, Caporaso NE, Vineis P, Siddiq A, Bueno-de-Mesquita HB, Trichopoulos D, Ljungberg B, Severi G, Weiderpass E, Krogh V, Dorronsoro M, Travis RC, Tjønneland A, Brennan P, Chang-Claude J, Riboli E, Prescott J, Chen C, De Vivo I, Govannucci E, Hunter D, Kraft P, Lindstrom S, Gapstur SM, Jacobs EJ, Diver WR, Albanes D, Weinstein SJ, Virtamo J, Kooperberg C, Hohensee C, Rodabough RJ, Cortessis VK, Conti DV, Gago-Dominguez M, Stern MC, Pike MC, Van Den Berg D, Yuan JM, Haiman CA, Cussenot O, Cancel-Tassin G, Roupret M, Comperat E, Porru S, Carta A, Pavanello S, Arici C, Mastrangelo G, Grossman HB, Wang Z, Deng X, Chung CC, Hutchinson A, Burdette L, Wheeler W, Fraumeni J Jr, Chanock SJ, Hewitt SM, Silverman DT, Rothman N, Prokunina-Olsson L. Cancer Res. Research support; Article. 2014 Oct 15;74(20):5808-18. doi: 10.1158/0008-5472.CAN-14-1531.
Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33. Wang Z, Zhu B, Zhang M, Parikh H, Jia J, Chung CC, Sampson JN, Hoskins JW, Hutchinson A, Burdette L, Ibrahim A, Hautman C, Raj PS, Abnet CC, Adjei AA, Ahlbom A, Albanes D, Allen NE, Ambrosone CB, Aldrich M, Amiano P, Amos C, Andersson U, Andriole G Jr, Andrulis IL, Arici C, Arslan AA, Austin MA, Baris D, Barkauskas DA, Bassig BA, Beane Freeman LE, Berg CD, Berndt SI, Bertazzi PA, Biritwum RB, Black A, Blot W, Boeing H, Boffetta P, Bolton K, Boutron-Ruault MC, Bracci PM, Brennan P, Brinton LA, Brotzman M, Bueno-de-Mesquita HB, Buring JE, Butler MA, Cai Q, Cancel-Tassin G, Canzian F, Cao G, Caporaso NE, Carrato A, Carreon T, Carta A, Chang GC, Chang IS, Chang-Claude J, Che X, Chen CJ, Chen CY, Chen CH, Chen C, Chen KY, Chen YM, Chokkalingam AP, Chu LW, Clavel-Chapelon F, Colditz GA, Colt JS, Conti D, Cook MB, Cortessis VK, Crawford ED, Cussenot O, Davis FG, De Vivo I, Deng X, Ding T, Dinney CP, Di Stefano AL, Diver WR, Duell EJ, Elena JW, Fan JH, Feigelson HS, Feychting M, Figueroa JD, Flanagan AM, Fraumeni JF Jr, Freedman ND, Fridley BL, Fuchs CS, Gago-Dominguez M, Gallinger S, Gao YT, Gapstur SM, Garcia-Closas M, Garcia-Closas R, Gastier-Foster JM, Gaziano JM, Gerhard DS, Giffen CA, Giles GG, Gillanders EM, Giovannucci EL, Goggins M, Gokgoz N, Goldstein AM, Gonzalez C, Gorlick R, Greene MH, Gross M, Grossman HB, Grubb R rd, Gu J, Guan P, Haiman CA, Hallmans G, Hankinson SE, Harris CC, Hartge P, Hattinger C, Hayes RB, He Q, Helman L, Henderson BE, Henriksson R, Hoffman-Bolton J, Hohensee C, Holly EA, Hong YC, Hoover RN, Hosgood HD rd, Hsiao CF, Hsing AW, Hsiung CA, Hu N, Hu W, Hu Z, Huang MS, Hunter DJ, Inskip PD, Ito H, Jacobs EJ, Jacobs KB, Jenab M, Ji BT, Johansen C, Johansson M, Johnson A, Kaaks R, Kamat AM, Kamineni A, Karagas M, Khanna C, Khaw KT, Kim C, Kim IS, Kim JH, Kim YH, Kim YC, Kim YT, Kang CH, Jung YJ, Kitahara CM, Klein AP, Klein R, Kogevinas M, Koh WP, Kohno T, Kolonel LN, Kooperberg C, Kratz CP, Krogh V, Kunitoh H, Kurtz RC, Kurucu N, Lan Q, Lathrop M, Lau CC, Lecanda F, Lee KM, Lee MP, Le Marchand L, Lerner SP, Li D, Liao LM, Lim WY, Lin D, Lin J, Lindstrom S, Linet MS, Lissowska J, Liu J, Ljungberg B, Lloreta J, Lu D, Ma J, Malats N, Mannisto S, Marina N, Mastrangelo G, Matsuo K, McGlynn KA, McKean-Cowdin R, McNeill LH, McWilliams RR, Melin BS, Meltzer PS, Mensah JE, Miao X, Michaud DS, Mondul AM, Moore LE, Muir K, Niwa S, Olson SH, Orr N, Panico S, Park JY, Patel AV, Patino-Garcia A, Pavanello S, Peeters PH, Peplonska B, Peters U, Petersen GM, Picci P, Pike MC, Porru S, Prescott J, Pu X, Purdue MP, Qiao YL, Rajaraman P, Riboli E, Risch HA, Rodabough RJ, Rothman N, Ruder AM, Ryu JS, Sanson M, Schned A, Schumacher FR, Schwartz AG, Schwartz KL, Schwenn M, Scotlandi K, Seow A, Serra C, Serra M, Sesso HD, Severi G, Shen H, Shen M, Shete S, Shiraishi K, Shu XO, Siddiq A, Sierrasesumaga L, Sierri S, Loon Sihoe AD, Silverman DT, Simon M, Southey MC, Spector L, Spitz M, Stampfer M, Stattin P, Stern MC, Stevens VL, Stolzenberg-Solomon RZ, Stram DO, Strom SS, Su WC, Sund M, Sung SW, Swerdlow A, Tan W, Tanaka H, Tang W, Tang ZZ, Tardon A, Tay E, Taylor PR, Tettey Y, Thomas DM, Tirabosco R, Tjonneland A, Tobias GS, Toro JR, Travis RC, Trichopoulos D, Troisi R, Truelove A, Tsai YH, Tucker MA, Tumino R, Van Den Berg D, Van Den Eeden SK, Vermeulen R, Vineis P, Visvanathan K, Vogel U, Wang C, Wang C, Wang J, Wang SS, Weiderpass E, Weinstein SJ, Wentzensen N, Wheeler W, White E, Wiencke JK, Wolk A, Wolpin BM, Wong MP, Wrensch M, Wu C, Wu T, Wu X, Wu YL, Wunder JS, Xiang YB, Xu J, Yang HP, Yang PC, Yatabe Y, Ye Y, Yeboah ED, Yin Z, Ying C, Yu CJ, Yu K, Yuan JM, Zanetti KA, Zeleniuch-Jacquotte A, Zheng W, Zhou B, Mirabello L, Savage SA, Kraft P, Chanock SJ, Yeager M, Landi MT, Shi J, Chatterjee N, Amundadottir LT. Hum Mol Genet. Journal article. 2014 Dec 15;23(24):6616-33. doi: 10.1093/hmg/ddu363. Epub 2014 Jul 15.
Euroforgen-NoE collaborative exercise on LRmix to demonstrate standardization of the interpretation of complex DNA profiles. Prieto L, Haned H, Mosquera A, Crespillo M, Alemañ M, Aler M, Alvarez F, Baeza-Richer C, Dominguez A, Doutremepuich C, Farfán MJ, Fenger-Grøn M, García-Ganivet JM, González-Moya E, Hombreiro L, Lareu MV, Martínez-Jarreta B, Merigioli S, Milans Del Bosch P, Morling N, Muñoz-Nieto M, Ortega-González E, Pedrosa S, Pérez R, Solís C, Yurrebaso I, Gill P. Forensic Sci Int Genet. Article. 2014 Mar;9:47-54. doi: 10.1016/j.fsigen.2013.10.011. Epub 2013 Oct 31.
The saga of the many studies wrongly associating mitochondrial DNA with breast cancer. Salas A, García-Magariños M, Logan I, Bandelt HJ. BMC Cancer. Research support; Research article. 2014 Sep 9;14:659. doi: 10.1186/1471-2407-14-659.
Ancient human genomes suggest three ancestral populations for present-day Europeans. Lazaridis I, Patterson N, Mittnik A, Renaud G, Mallick S, Kirsanow K, Sudmant PH, Schraiber JG, Castellano S, Lipson M, Berger B, Economou C, Bollongino R, Fu Q, Bos KI, Nordenfelt S, Li H, de Filippo C, Prüfer K, Sawyer S, Posth C, Haak W, Hallgren F, Fornander E, Rohland N, Delsate D, Francken M, Guinet JM, Wahl J, Ayodo G, Babiker HA, Bailliet G, Balanovska E, Balanovsky O, Barrantes R, Bedoya G, Ben-Ami H, Bene J, Berrada F, Bravi CM, Brisighelli F, Busby GB, Cali F, Churnosov M, Cole DE, Corach D, Damba L, van Driem G, Dryomov S, Dugoujon JM, Fedorova SA, Gallego Romero I, Gubina M, Hammer M, Henn BM, Hervig T, Hodoglugil U, Jha AR, Karachanak-Yankova S, Khusainova R, Khusnutdinova E, Kittles R, Kivisild T, Klitz W, Kučinskas V, Kushniarevich A, Laredj L, Litvinov S, Loukidis T, Mahley RW, Melegh B, Metspalu E, Molina J, Mountain J, Näkkäläjärvi K, Nesheva D, Nyambo T, Osipova L, Parik J, Platonov F, Posukh O, Romano V, Rothhammer F, Rudan I, Ruizbakiev R, Sahakyan H, Sajantila A, Salas A, Starikovskaya EB, Tarekegn A, Toncheva D, Turdikulova S, Uktveryte I, Utevska O, Vasquez R, Villena M, Voevoda M, Winkler CA, Yepiskoposyan L, Zalloua P, Zemunik T, Cooper A, Capelli C, Thomas MG, Ruiz-Linares A, Tishkoff SA, Singh L, Thangaraj K, Villems R, Comas D, Sukernik R, Metspalu M, Meyer M, Eichler EE, Burger J, Slatkin M, Pääbo S, Kelso J, Reich D, Krause J. Nature. Research support; Letter; Article. 2014 Sep 18;513(7518):409-13. doi: 10.1038/nature13673.
Mitochondrial DNA (mtDNA) variants in the European haplogroups HV, JT, and U do not have a major role in schizophrenia. Torrell H, Salas A, Abasolo N, Morén C, Garrabou G, Valero J, Alonso Y, Vilella E, Costas J, Martorell L. Am J Med Genet B Neuropsychiatr Genet. Research support; Research article; Article. 2014 Oct;165B(7):607-17. doi: 10.1002/ajmg.b.32264. Epub 2014 Aug 17.
A variety of the face of the giant panda sign. Pias-Peleteiro JM, Sesar A, Ares-Pensado B, Aldrey JM, Castro-Garcia A. Rev Neurol. English abstract; Case report. 2014 Jun 16;58(12):571-2.
The alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR. Am J Hum Genet. Research support; Artcle. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24.
Automated semantic annotation of rare disease cases: a case study. Taboada M, Rodríguez H, Martínez D, Pardo M, Sobrido MJ. Database (Oxford). Research support; Article. 2014 Jun 4;2014. pii: bau045. doi: 10.1093/database/bau045. Print 2014.
Radiogenomics: Radiobiology enters the era of big data and team science. Rosenstein BS, West CM, Bentzen SM, Alsner J, Andreassen CN, Azria D, Barnett GC, Baumann M, Burnet N, Chang-Claude J, Chuang EY, Coles CE, Dekker A, De Ruyck K, De Ruysscher D, Drumea K, Dunning AM, Easton D, Eeles R, Fachal L, Gutiérrez-Enríquez S, Haustermans K, Henríquez-Hernández LA, Imai T, Jones GD, Kerns SL, Liao Z, Onel K, Ostrer H, Parliament M, Pharoah PD, Rebbeck TR, Talbot CJ, Thierens H, Vega A, Witte JS, Wong P, Zenhausern F; Radiogenomics Consortium. Int J Radiat Oncol Biol Phys. Editorial; Research support; Editorial material. 2014 Jul 15;89(4):709-13. doi: 10.1016/j.ijrobp.2014.03.009.
Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers. Zugazagoitia J, Pérez-Segura P, Manzano A, Blanco I, Vega A, Custodio A, Teulé A, Fachal L, Martínez B, González-Sarmiento R, Cruz-Hernández JJ, Chirivella I, Garcés V, Garre P, Romero A, Caldés T, Díaz-Rubio E, de la Hoya M. Breast Cancer Res Treat. Research support; Article. 2014 Nov;148(2):415-21. doi: 10.1007/s10549-014-3167-4. Epub 2014 Oct 24.
Radiogenomics: The search for genetic predictors of radiotherapy response. Kerns SL, L West CM, Andreassen CN, Barnett GC, Bentzen SM, Burnet NG, Dekker A, Ruysscher DD, Dunning A, Parliament M, Talbot C, Vega A, Rosenstein BS. Future Oncol. Review. 2014 Dec;10(15):2391-406. doi: 10.2217/fon.14.173.
A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis. Real LM, Ruiz A, Gayán J, González-Pérez A, Sáez ME, Ramírez-Lorca R, Morón FJ, Velasco J, Marginet-Flinch R, Musulén E, Carrasco JM, Moreno-Rey C, Vázquez E, Chaves-Conde M, Moreno-Nogueira JA, Hidalgo-Pascual M, Ferrero-Herrero E, Castellví-Bel S, Castells A, Fernandez-Rozadilla C, Ruiz-Ponte C, Carracedo A, González B, Alonso S, Perucho M. PLoS One. Research support; Research article. 2014 Jun 30;9(6):e101178. doi: 10.1371/journal.pone.0101178. eCollection 2014.
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘care for CMMRD’ (C4CMMRD). Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L; EU-Consortium Care for CMMRD (C4CMMRD). J Med Genet. Review. 2014 Jun;51(6):355-65. doi: 10.1136/jmedgenet-2014-102284. Epub 2014 Apr 15.
Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis. 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, Schafmayer C, Teixeira MR, Westers H, Wezel Tv, Bishop DT, Tomlinson I, Dunlop MG, Houlston RS. J Natl Cancer Inst. Comment; Letter; Research support. 2014 Apr 26;106(5). pii: dju086. doi: 10.1093/jnci/dju086.
The REQUITE project: validating predictive models and biomarkers of radiotherapy toxicity to reduce side-effects and improve quality of life in cancer survivors. West C, Azria D, Chang-Claude J, Davidson S, Lambin P, Rosenstein B, De Ruysscher D, Talbot C, Thierens H, Valdagni R, Vega A, Yuille M. Clin Oncol (R Coll Radiol). Editorial material; Research support; Editorial. 2014 Dec;26(12):739-42. doi: 10.1016/j.clon.2014.09.008. Epub 2014 Sep 27.
DNA Commission of the International Society for Forensic Genetics: revised and extended guidelines for mitochondrial DNA typing. Parson W, Gusmão L, Hares DR, Irwin JA, Mayr WR, Morling N, Pokorak E, Prinz M, Salas A, Schneider PM, Parsons TJ. Forensic Sci Int Genet. Research support; Original research article. 2014 Nov;13:134-42. doi: 10.1016/j.fsigen.2014.07.010. Epub 2014 Jul 29.
New clues to the relationship between endoplasmic reticulum, lipid metabolism and axonopathies. Sobrido, Maria-Jesus. Hum Mutat. Journal article. 2014 Apr; Volume:35; Issue:4; Pages:v; DOI:10.1002/humu.22408.
Cholesterol and cognition: A question of balance?. Sobrido, Maria-Jesus. Hum Mutat. Journal article. 2014 Dec; Volume:35; Issue:12; Pages:v; DOI:10.1002/humu.22423.
