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Page 1
Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study.
Marenne G, Rodríguez-Santiago B, Closas MG, Pérez-Jurado L, Rothman N, Rico D, Pita G, Pisano DG, Kogevinas M, Silverman DT, Valencia A, Real FX, Chanock SJ, Génin E, Malats N. Marenne G, et al. Among authors: pita g. Hum Mutat. 2011 Feb;32(2):240-8. doi: 10.1002/humu.21398. Epub 2011 Jan 25. Hum Mutat. 2011. PMID: 21089066 Free PMC article.
HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19.
Castro-Santos P, Rojas-Martinez A, Riancho JA, Lapunzina P, Flores C, Carracedo Á, Díaz-Peña R; Scourge Cohort Group. Castro-Santos P, et al. HLA. 2023 Dec;102(6):731-739. doi: 10.1111/tan.15160. Epub 2023 Aug 1. HLA. 2023. PMID: 37528566
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P; GenOMICC Investigators; SCOURGE Consortium; ISARICC Investigators; 23andMe COVID-19 Team; Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi AD, Parra EJ, Cruz R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK. Pairo-Castineira E, et al. Nature. 2023 May;617(7962):764-768. doi: 10.1038/s41586-023-06034-3. Epub 2023 May 17. Nature. 2023. PMID: 37198478 Free PMC article.
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Wilcox N, Dumont M, González-Neira A, Carvalho S, Joly Beauparlant C, Crotti M, Luccarini C, Soucy P, Dubois S, Nuñez-Torres R, Pita G, Gardner EJ, Dennis J, Alonso MR, Álvarez N, Baynes C, Collin-Deschesnes AC, Desjardins S, Becher H, Behrens S, Bolla MK, Castelao JE, Chang-Claude J, Cornelissen S, Dörk T, Engel C, Gago-Dominguez M, Guénel P, Hadjisavvas A, Hahnen E, Hartman M, Herráez B; SGBCC Investigators; Jung A, Keeman R, Kiechle M, Li J, Loizidou MA, Lush M, Michailidou K, Panayiotidis MI, Sim X, Teo SH, Tyrer JP, van der Kolk LE, Wahlström C, Wang Q, Perry JRB, Benitez J, Schmidt MK, Schmutzler RK, Pharoah PDP, Droit A, Dunning AM, Kvist A, Devilee P, Easton DF, Simard J. Wilcox N, et al. Among authors: pita g. Nat Genet. 2023 Sep;55(9):1435-1439. doi: 10.1038/s41588-023-01466-z. Epub 2023 Aug 17. Nat Genet. 2023. PMID: 37592023 Free PMC article.
Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P; GenOMICC Investigators; SCOURGE Consortium; ISARICC Investigators; 23andMe COVID-19 Team; Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi AD, Parra EJ, Cruz R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK. Pairo-Castineira E, et al. Nature. 2023 Jul;619(7971):E61. doi: 10.1038/s41586-023-06383-z. Nature. 2023. PMID: 37433877 Free PMC article. No abstract available.
SLC45A2: a novel malignant melanoma-associated gene.
Fernandez LP, Milne RL, Pita G, Avilés JA, Lázaro P, Benítez J, Ribas G. Fernandez LP, et al. Among authors: pita g. Hum Mutat. 2008 Sep;29(9):1161-7. doi: 10.1002/humu.20804. Hum Mutat. 2008. PMID: 18563784
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.
Milne RL, Benítez J, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Arias JI, Zamora MP, Burwinkel B, Bartram CR, Meindl A, Schmutzler RK, Cox A, Brock I, Elliott G, Reed MW, Southey MC, Smith L, Spurdle AB, Hopper JL, Couch FJ, Olson JE, Wang X, Fredericksen Z, Schürmann P, Bremer M, Hillemanns P, Dörk T, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Hall P, Czene K, Liu J, Li Y, Ahmed S, Dunning AM, Maranian M, Pharoah PD, Chenevix-Trench G, Beesley J; kConFab Investigators; AOCS Group; Bogdanova NV, Antonenkova NN, Zalutsky IV, Anton-Culver H, Ziogas A, Brauch H, Justenhoven C, Ko YD, Haas S, Fasching PA, Strick R, Ekici AB, Beckmann MW, Giles GG, Severi G, Baglietto L, English DR, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Turnbull C, Hines S, Renwick A, Rahman N, Nordestgaard BG, Bojesen SE, Flyger H, Kang D, Yoo KY, Noh DY, Mannermaa A, Kataja V, Kosma VM, García-Closas M, Chanock S, Lissowska J, Brinton LA, Chang-Claude J, Wang-Gohrke S, Shen CY, Wang HC, Yu JC, Chen ST, Bermisheva M, Nikolaeva T, Khusnutdinova E, Humphreys MK, Morrison J, Platte R, Easton DF; Breast Cancer Association Consortium. Milne RL, et al. J Natl Cancer Inst. 2009 Jul 15;101(14):1012-8. doi: 10.1093/jnci/djp167. Epub 2009 Jun 30. J Natl Cancer Inst. 2009. PMID: 19567422 Free PMC article.
Select your SNPs (SYSNPs): a web tool for automatic and massive selection of SNPs.
Lorente-Galdos B, Medina I, Morcillo-Suarez C, Heredia T, Carreño-Torres A, Sangrós R, Alegre J, Pita G, Vellalta G, Malats N, Pisano DG, Dopazo J, Navarro A. Lorente-Galdos B, et al. Among authors: pita g. Int J Data Min Bioinform. 2012;6(3):324-34. doi: 10.1504/ijdmb.2012.049249. Int J Data Min Bioinform. 2012. PMID: 23155765
A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium.
Milne RL, Herranz J, Michailidou K, Dennis J, Tyrer JP, Zamora MP, Arias-Perez JI, González-Neira A, Pita G, Alonso MR, Wang Q, Bolla MK, Czene K, Eriksson M, Humphreys K, Darabi H, Li J, Anton-Culver H, Neuhausen SL, Ziogas A, Clarke CA, Hopper JL, Dite GS, Apicella C, Southey MC, Chenevix-Trench G; kConFab Investigators; Australian Ovarian Cancer Study Group; Swerdlow A, Ashworth A, Orr N, Schoemaker M, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Bojesen SE, Nordestgaard BG, Flyger H, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Wang X, Olson JE, Vachon C, Purrington K, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Dunning AM, Shah M, Guénel P, Truong T, Sanchez M, Mulot C, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, Collée JM, Jager A, Cox A, Brock IW, Reed MW, Devilee P, Tollenaar RA, Seynaeve C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Dumont M, Soucy P, Dörk T, Bogdanova NV, Hamann U, Försti A, Rüdiger T, Ulmer HU, Fasching PA, Häberle L, Ekici AB, Beckmann MW, Fletche… See abstract for full author list ➔ Milne RL, et al. Among authors: pita g. Hum Mol Genet. 2014 Apr 1;23(7):1934-46. doi: 10.1093/hmg/ddt581. Epub 2013 Nov 15. Hum Mol Genet. 2014. PMID: 24242184 Free PMC article.
FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium.
Agarwal D, Pineda S, Michailidou K, Herranz J, Pita G, Moreno LT, Alonso MR, Dennis J, Wang Q, Bolla MK, Meyer KB, Menéndez-Rodríguez P, Hardisson D, Mendiola M, González-Neira A, Lindblom A, Margolin S, Swerdlow A, Ashworth A, Orr N, Jones M, Matsuo K, Ito H, Iwata H, Kondo N; kConFab Investigators; Australian Ovarian Cancer Study Group; Hartman M, Hui M, Lim WY, Iau PT, Sawyer E, Tomlinson I, Kerin M, Miller N, Kang D, Choi J-, Park SK, Noh D-, Hopper JL, Schmidt DF, Makalic E, Southey MC, Teo SH, Yip CH, Sivanandan K, Tay W-, Brauch H, Brüning T, Hamann U; GENICA Network; Dunning AM, Shah M, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Schmidt MK, Broeks A, Rosenberg EH, van't Veer LJ, Fasching PA, Renner SP, Ekici AB, Beckmann MW, Shen C-, Hsiung C-, Yu J-, Hou M-, Blot W, Cai Q, Wu AH, Tseng C-, Van Den Berg D, Stram DO, Cox A, Brock IW, Reed MW, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Zheng W, Deming-Halverson S, Shrubsole MJ, Long J, Shu X-, Lu W, Gao Y-, Zhang B, Radice P, Peterlongo P, Manoukian S, Mariette F, Sangrajrang S, McKay J, Couch FJ, Toland AE; TNBCC; Yannoukakos D, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Marme F, Burwink… See abstract for full author list ➔ Agarwal D, et al. Among authors: pita g. Br J Cancer. 2014 Feb 18;110(4):1088-100. doi: 10.1038/bjc.2013.769. Br J Cancer. 2014. PMID: 24548884 Free PMC article.
104 results