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Luis Carvajal-Carmona

TitleAsst Prof
InstitutionUniversity of California Davis
Address
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Carvajal-Carmona L. PALB2 as a familial gastric cancer gene: is the wait over? Lancet Gastroenterol Hepatol. 2018 Apr 26. PMID: 29706559.
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    2. Coggins NB, Stultz J, O'Geen H, Carvajal-Carmona L, Segal DJ. Author Correction: Methods for Scarless, Selection-Free Generation of Human Cells and Allele-Specific Functional Analysis of Disease-Associated SNPs and Variants of Uncertain Significance. Sci Rep. 2018 Apr 12; 8(1):6140. PMID: 29643450.
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    3. Coggins NB, Stultz J, O'Geen H, Carvajal-Carmona L, Segal DJ. Methods for Scarless, Selection-Free Generation of Human Cells and Allele-Specific Functional Analysis of Disease-Associated SNPs and Variants of Uncertain Significance. Sci Rep. 2017 Nov 08; 7(1):15044. PMID: 29118424.
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    4. Alvarez C, Tapia T, Perez-Moreno E, Gajardo-Meneses P, Ruiz C, Rios M, Missarelli C, Silva M, Cruz A, Matamala L, Carvajal-Carmona L, Camus M, Carvallo P. BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. Oncotarget. 2017 Sep 26; 8(43):74233-74243. PMID: 29088781.
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    5. Sahasrabudhe R, Lott P, Bohorquez M, Toal T, Estrada AP, Suarez JJ, Brea-Fernández A, Cameselle-Teijeiro J, Pinto C, Ramos I, Mantilla A, Prieto R, Corvalan A, Norero E, Alvarez C, Tapia T, Carvallo P, Gonzalez LM, Cock-Rada A, Solano A, Neffa F, Della Valle A, Yau C, Soares G, Borowsky A, Hu N, He LJ, Han XY, Taylor PR, Goldstein AM, Torres J, Echeverry M, Ruiz-Ponte C, Teixeira MR, Carvajal-Carmona L. Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer. Gastroenterology. 2017 04; 152(5):983-986.e6. PMID: 28024868.
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    6. Bohorquez M, Sahasrabudhe R, Criollo A, Sanabria-Salas MC, Vélez A, Castro JM, Marquez JR, Mateus G, Bolaños F, Panqueva C, Restrepo JI, Puerta JD, Murillo R, Bravo MM, Hernández G, Rios A, Prieto R, Tomlinson I, Echeverry M, Carvajal-Carmona L. Clinical manifestations of colorectal cancer patients from a large multicenter study in Colombia. Medicine (Baltimore). 2016 Oct; 95(40):e4883. PMID: 27749544.
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    7. Estrada-Florez AP, Bohórquez ME, Sahasrabudhe R, Prieto R, Lott P, Duque CS, Donado J, Mateus G, Bolaños F, Vélez A, Echeverry M, Carvajal-Carmona L. Clinical features of Hispanic thyroid cancer cases and the role of known genetic variants on disease risk. Medicine (Baltimore). 2016 Aug; 95(32):e4148. PMID: 27512836; PMCID: PMC4985291.
    8. Carvajal-Carmona L, Tomlinson I, Sahasrabudhe R. RE: HABP2 G534E Mutation in Familial Nonmedullary Thyroid Cancer. J Natl Cancer Inst. 2016 08; 108(8). PMID: 27154966.
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    9. Bohórquez ME, Estrada AP, Stultz J, Sahasrabudhe R, Williamson J, Lott P, Duque CS, Donado J, Mateus G, Bolaños F, Vélez A, Echeverry M, Carvajal-Carmona L. The HABP2 G534E polymorphism does not increase nonmedullary thyroid cancer risk in Hispanics. Endocr Connect. 2016 May; 5(3):123-7. PMID: 27097599; PMCID: PMC5002962.
    10. Sahasrabudhe R, Stultz J, Williamson J, Lott P, Estrada A, Bohorquez M, Palles C, Polanco-Echeverry G, Jaeger E, Martin L, Magdalena Echeverry M, Tomlinson I, Carvajal-Carmona L. The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer. J Clin Endocrinol Metab. 2016 03 01; 10(3):1098-1103. PMID: 26691890.
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    11. Cheng TH, Thompson D, Painter J, O'Mara T, Gorman M, Martin L, Palles C, Jones A, Buchanan DD, Win AK, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Giles GG, Pharoah P, Peto J, Cox A, Swerdlow A, Couch F, Cunningham JM, Goode EL, Winham SJ, Lambrechts D, Fasching P, Burwinkel B, Brenner H, Brauch H, Chang-Claude J, Salvesen HB, Kristensen V, Darabi H, Li J, Liu T, Lindblom A, Hall P, de Polanco ME, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Aguiar Jnr S, Teixeira MR, Dunning AM, Dennis J, Otton G, Proietto T, Holliday E, Attia J, Ashton K, Scott RJ, McEvoy M, Dowdy SC, Fridley BL, Werner HM, Trovik J, Njolstad TS, Tham E, Mints M, Runnebaum I, Hillemanns P, Dörk T, Amant F, Schrauwen S, Hein A, Beckmann MW, Ekici A, Czene K, Meindl A, Bolla MK, Michailidou K, Tyrer JP, Wang Q, Ahmed S, Healey CS, Shah M, Annibali D, Depreeuw J, Al-Tassan NA, Harris R, Meyer BF, Whiffin N, Hosking FJ, Kinnersley B, Farrington SM, Timofeeva M, Tenesa A, Campbell H, Haile RW, Hodgson S, Carvajal-Carmona L, Cheadle JP, Easton D, Dunlop M, Houlston R, Spurdle A, Tomlinson I. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Sci Rep. 2015 12 01; 5:17369. PMID: 26621817.
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    12. Thompson DJ, O'Mara TA, Glubb DM, Painter JN, Cheng T, Folkerd E, Doody D, Dennis J, Webb PM, Gorman M, Martin L, Hodgson S, Michailidou K, Tyrer JP, Maranian MJ, Hall P, Czene K, Darabi H, Li J, Fasching PA, Hein A, Beckmann MW, Ekici AB, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Zhao H, Depreeuw J, Schrauwen S, Amant F, Goode EL, Fridley BL, Dowdy SC, Winham SJ, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Ashton K, Proietto T, Otton G, Carvajal-Carmona L, Tham E, Liu T, Mints M, Scott RJ, McEvoy M, Attia J, Holliday EG, Montgomery GW, Martin NG, Nyholt DR, Henders AK, Hopper JL, Traficante N, Ruebner M, Swerdlow AJ, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Lambrechts D, Chang-Claude J, Couch FJ, Giles GG, Kristensen VN, Cox A, Bolla MK, Wang Q, Bojesen SE, Shah M, Luben R, Khaw KT, Pharoah PD, Dunning AM, Tomlinson I, Dowsett M, Easton DF, Spurdle AB. CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. Endocr Relat Cancer. 2016 Feb; 23(2):77-91. PMID: 26574572; PMCID: PMC4697192.
    13. Montazeri Z, Theodoratou E, Nyiraneza C, Timofeeva M, Chen W, Svinti V, Sivakumaran S, Gresham G, Cubitt L, Carvajal-Carmona L, Bertagnolli MM, Zauber AG, Tomlinson I, Farrington SM, Dunlop MG, Campbell H, Little J. Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas. Int J Epidemiol. 2016 Feb; 45(1):186-205. PMID: 26451011.
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    14. Villanueva P, Nudel R, Hoischen A, Fernández MA, Simpson NH, Gilissen C, Reader RH, Jara L, Magdalena Echeverry M, Francks C, Baird G, Conti-Ramsden G, O'Hare A, Bolton PF, Hennessy ER, Palomino H, Carvajal-Carmona L, Veltman JA, Cazier JB, De Barbieri Z, Fisher SE, Newbury DF. Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment. PLoS Genet. 2015 Jun; 11(6):e1005336. PMID: 26114769; PMCID: PMC4483266.
    15. Weren RD, Venkatachalam R, Cazier JB, Farin HF, Kets CM, de Voer RM, Vreede L, Verwiel ET, van Asseldonk M, Kamping EJ, Kiemeney LA, Neveling K, Aben KK, Carvajal-Carmona L, Nagtegaal ID, Schackert HK, Clevers H, van de Wetering M, Tomlinson IP, Ligtenberg MJ, Hoogerbrugge N, Geurts van Kessel A, Kuiper RP. Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development. J Pathol. 2015 Jun; 236(2):155-64. PMID: 25712196.
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    16. Villanueva P, Nudel R, Hoischen A, Fernández MA, Simpson NH, Gilissen C, Reader RH, Jara L, Echeverry MM, Echeverry MM, Francks C, Baird G, Conti-Ramsden G, O'Hare A, Bolton PF, Hennessy ER, Palomino H, Carvajal-Carmona L, Veltman JA, Cazier JB, De Barbieri Z, Fisher SE, Newbury DF. Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment. PLoS Genet. 2015 Mar; 11(3):e1004925. PMID: 25781923; PMCID: PMC4363375.
    17. Carvajal-Carmona L, O'Mara TA, Painter JN, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K, Healey CS, Pooley K, Beesley J, Cheng T, Jones A, Howarth K, Martin L, Gorman M, Hodgson S, Wentzensen N, Fasching PA, Hein A, Beckmann MW, Renner SP, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Lambrechts D, Coenegrachts L, Schrauwen S, Amant F, Winterhoff B, Dowdy SC, Goode EL, Teoman A, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Scott RJ, Ashton K, Proietto T, Otton G, Wersäll O, Mints M, Tham E, Hall P, Czene K, Liu J, Li J, Hopper JL, Southey MC, Ekici AB, Ruebner M, Johnson N, Peto J, Burwinkel B, Marme F, Brenner H, Dieffenbach AK, Meindl A, Brauch H, Lindblom A, Depreeuw J, Moisse M, Chang-Claude J, Rudolph A, Couch FJ, Olson JE, Giles GG, Bruinsma F, Cunningham JM, Fridley BL, Børresen-Dale AL, Kristensen VN, Cox A, Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber RP, Chen Z, Shah M, Pharoah PD, Dunning AM, Tomlinson I, Easton DF, Spurdle AB, Thompson DJ. Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Hum Genet. 2015 Feb; 134(2):231-45. PMID: 25487306; PMCID: PMC4291520.
    18. Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K, Healey CS, Kaufmann S, Hillman KM, Walpole C, Moya L, Pollock P, Jones A, Howarth K, Martin L, Gorman M, Hodgson S, De Polanco MM, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Santos E, Teixeira MR, Carvajal-Carmona L, Shu XO, Long J, Zheng W, Xiang YB, Montgomery GW, Webb PM, Scott RJ, McEvoy M, Attia J, Holliday E, Martin NG, Nyholt DR, Henders AK, Fasching PA, Hein A, Beckmann MW, Renner SP, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Lambrechts D, Coenegrachts L, Schrauwen S, Amant F, Winterhoff B, Dowdy SC, Goode EL, Teoman A, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Ashton K, Proietto T, Otton G, Tzortzatos G, Mints M, Tham E, Hall P, Czene K, Liu J, Li J, Hopper JL, Southey MC, Ekici AB, Ruebner M, Johnson N, Peto J, Burwinkel B, Marme F, Brenner H, Dieffenbach AK, Meindl A, Brauch H, Lindblom A, Depreeuw J, Moisse M, Chang-Claude J, Rudolph A, Couch FJ, Olson JE, Giles GG, Bruinsma F, Cunningham JM, Fridley BL, Børresen-Dale AL, Kristensen VN, Cox A, Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber RP, Chen Z, Shah M, French JD, Pharoah PD, Dunning AM, Tomlinson I, Easton DF, Edwards SL, Thompson DJ, Spurdle AB. Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Hum Mol Genet. 2015 Mar 01; 24(5):1478-92. PMID: 25378557.
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    19. Fejerman L, Ahmadiyeh N, Hu D, Huntsman S, Beckman KB, Caswell JL, Tsung K, John EM, Torres-Mejia G, Carvajal-Carmona L, Echeverry MM, Tuazon AM, Ramirez C. Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25. Nat Commun. 2014 Oct 20; 5:5260. PMID: 25327703; PMCID: PMC4204111.
    20. Wang J, Carvajal-Carmona L, Chu JH, Zauber AG, Kubo M, Matsuda K, Dunlop M, Houlston RS, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Ratain MJ, Nakamura Y, Weiss ST, Tomlinson I, Bertagnolli MM. Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study. Clin Cancer Res. 2013 Dec 01; 19(23):6430-7. PMID: 24084763.
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    21. Fernandez-Rozadilla C, Cazier JB, Tomlinson IP, Carvajal-Carmona L, 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, Moreno V, Castells A, Carracedo Á, Castellvi-Bel S, Ruiz-Ponte C. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. BMC Genomics. 2013 Jan 26; 14:55. PMID: 23350875.
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    22. Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Guarino Almeida E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona L, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet. 2013 Feb; 45(2):136-44. PMID: 23263490.
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    23. 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-Fernandez LA, Gonzalez D, Brea-Fernandez A, Clofent J, Bujanda L, Bessa X, Andreu M, Xicola R, Llor X, Jover R, Castells A, Castellvi-Bel S, Carracedo A, Tomlinson I, Ruiz-Ponte C. BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Carcinogenesis. 2013 Feb; 34(2):314-8. PMID: 23161572.
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    24. Carvajal-Carmona L, Zauber AG, Jones AM, Howarth K, Wang J, Cheng T, Riddell R, Lanas A, Morton D, Bertagnolli MM, Tomlinson I. Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas. Gastroenterology. 2013 Jan; 144(1):53-5. PMID: 22999960.
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    25. Dunlop MG, Dobbins SE, Farrington SM, Jones AM, Palles C, Whiffin N, Tenesa A, Spain S, Broderick P, Ooi LY, Domingo E, Smillie C, Henrion M, Frampton M, Martin L, Grimes G, Gorman M, Semple C, Ma YP, Barclay E, Prendergast J, Cazier JB, Olver B, Penegar S, Lubbe S, Chander I, Carvajal-Carmona L, Ballereau S, Lloyd A, Vijayakrishnan J, Zgaga L, Rudan I, Theodoratou E. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nat Genet. 2012 May 27; 44(7):770-6. PMID: 22634755.
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    26. 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. Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals. Gut. 2013 Jun; 62(6):871-81. PMID: 22490517.
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    27. Jones AM, Howarth KM, Martin L, Gorman M, Mihai R, Moss L, Auton A, Lemon C, Mehanna H, Mohan H, Clarke SE, Wadsley J, Macias E, Coatesworth A, Beasley M, Roques T, Martin C, Ryan P, Gerrard G, Power D, Bremmer C, Tomlinson I, Carvajal-Carmona L. Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24. J Med Genet. 2012 Mar; 49(3):158-63. PMID: 22282540.
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    28. Spain SL, Carvajal-Carmona L, Howarth KM, Jones AM, Su Z, Cazier JB, Williams J, Aaltonen LA, Pharoah P, Kerr DJ, Cheadle J, Li L, Casey G, Vodicka P, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Morreau H, van Wezel T, Ruiz-Ponte C, Fernandez-Rozadilla C, Carracedo A, Castells A, Castellvi-Bel S, Dunlop M, Houlston RS, Tomlinson IP. Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Hum Mol Genet. 2012 Feb 15; 21(4):934-46. PMID: 22076443.
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    29. Abulí A, Fernández-Rozadilla C, Alonso-Espinaco V, Muñoz J, Gonzalo V, Bessa X, González D, Clofent J, Cubiella J, Morillas JD, Rigau J, Latorre M, Fernández-Bañares F, Peña E, Riestra S, Payá A, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Villanueva CM, Moreno V, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, Castellví-Bel S. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins. BMC Cancer. 2011 Aug 05; 11:339. PMID: 21819567; PMCID: PMC3176240.
    30. Tomlinson IP, Carvajal-Carmona L, Dobbins SE, Tenesa A, Jones AM, Howarth K, Palles C, Broderick P, Jaeger EE, Farrington S, Lewis A, Prendergast JG, Pittman AM, Theodoratou E, Olver B, Walker M, Penegar S, Barclay E, Whiffin N, Martin L, Ballereau S, Lloyd A, Gorman M, Lubbe S. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genet. 2011 Jun; 7(6):e1002105. PMID: 21655089.
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    31. Carvajal-Carmona L, Cazier JB, Jones AM, Howarth K, Broderick P, Pittman A, Dobbins S, Tenesa A, Farrington S, Prendergast J, Theodoratou E, Barnetson R, Conti D, Newcomb P, Hopper JL, Jenkins MA, Gallinger S, Duggan DJ, Campbell H, Kerr D, Casey G, Houlston R, Dunlop M, Tomlinson I. Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes. Hum Mol Genet. 2011 Jul 15; 20(14):2879-88. PMID: 21531788.
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    32. Alonso-Espinaco V, Giráldez MD, Trujillo C, van der Klift H, Muñoz J, Balaguer F, Ocaña T, Madrigal I, Jones AM, Echeverry MM, Velez A, Tomlinson I, Milà M, Wijnen J, Carvajal-Carmona L, Castells A, Castellví-Bel S. Novel MLH1 duplication identified in Colombian families with Lynch syndrome. Genet Med. 2011 Feb; 13(2):155-60. PMID: 21233718.
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    33. Venkatachalam R, Ligtenberg MJ, Hoogerbrugge N, Schackert HK, Görgens H, Hahn MM, Kamping EJ, Vreede L, Hoenselaar E, van der Looij E, Goossens M, Churchman M, Carvajal-Carmona L, Tomlinson IP, de Bruijn DR, Van Kessel AG, Kuiper RP. Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer. Gastroenterology. 2010 Dec; 139(6):2221-4. PMID: 21036128.
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    34. Houlston RS, Cheadle J, Dobbins SE, Tenesa A, Jones AM, Howarth K, Spain SL, Broderick P, Domingo E, Farrington S, Prendergast JG, Pittman AM, Theodoratou E, Smith CG, Olver B, Walther A, Barnetson RA, Churchman M, Jaeger EE, Penegar S, Barclay E, Martin L, Gorman M, Mager R, Johnstone E, Midgley R, Niittymäki I, Tuupanen S, Colley J, Idziaszczyk S, Thomas HJ, Lucassen AM, Evans DG, Maher ER, Maughan T, Dimas A, Dermitzakis E, Cazier JB, Aaltonen LA, Pharoah P, Kerr DJ, Carvajal-Carmona L, Campbell H, Dunlop MG, Tomlinson IP. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet. 2010 Nov; 42(11):973-7. PMID: 20972440.
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    35. Carvajal-Carmona L. Challenges in the identification and use of rare disease-associated predisposition variants. Curr Opin Genet Dev. 2010 Jun; 20(3):277-81. PMID: 20564784.
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    36. Elliott KS, Zeggini E, McCarthy MI, Gudmundsson J, Sulem P, Stacey SN, Thorlacius S, Amundadottir L, Grönberg H, Xu J, Gaborieau V, Eeles RA, Neal DE, Donovan JL, Hamdy FC, Muir K, Hwang SJ, Spitz MR, Zanke B, Carvajal-Carmona L, Brown KM. Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies. PLoS One. 2010 May 28; 5(5):e10858. PMID: 20526366.
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    37. Carvajal-Carmona L. Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility alleles. Curr Opin Genet Dev. 2010 Jun; 20(3):308-14. PMID: 20456939.
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    38. Carvajal-Carmona L, Churchman M, Bonilla C, Walther A, Lefèvre JH, Kerr D, Dunlop M, Houlston R, Bodmer WF, Tomlinson I. Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predisposition. Proc Natl Acad Sci U S A. 2010 Apr 27; 107(17):7858-62. PMID: 20368424; PMCID: PMC2867909.
    39. Spain SL, Cazier JB. Colorectal cancer risk is not associated with increased levels of homozygosity in a population from the United Kingdom. Cancer Res. 2009 Sep 15; 69(18):7422-9. PMID: 19723657.
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    40. Tuupanen S, Turunen M, Lehtonen R, Hallikas O, Vanharanta S, Kivioja T, Björklund M, Wei G, Yan J, Niittymäki I, Mecklin JP, Järvinen H, Ristimäki A, Di-Bernardo M, East P, Carvajal-Carmona L, Houlston RS, Tomlinson I, Palin K, Ukkonen E, Karhu A, Taipale J, Aaltonen LA. The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet. 2009 Aug; 41(8):885-90. PMID: 19561604.
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    41. Carvajal-Carmona L, Spain S, Kerr D, Houlston R, Cazier JB, Tomlinson I. Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK. Hum Mol Genet. 2009 May 15; 18(10):1889-92. PMID: 19264763.
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    42. Vélez A, Gaitan MH, Marquez JR, Castaño A, Restrepo JI, Jaramillo S, Gamarra A, Novelli M, Echeverry MM, Tomlinson I, Carvajal-Carmona L. Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients. Clin Genet. 2009 Mar; 75(3):304-6. PMID: 19250387.
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    43. Houlston RS, Webb E, Broderick P, Pittman AM, Di Bernardo MC, Lubbe S, Chandler I, Vijayakrishnan J, Sullivan K, Penegar S, Carvajal-Carmona L, Howarth K, Jaeger E, Spain SL, Walther A, Barclay E, Martin L, Gorman M, Domingo E, Teixeira AS, Kerr D, Cazier JB, Niittymäki I, Tuupanen S, Karhu A, Aaltonen LA, Tomlinson IP, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Cetnarskyj R, Porteous ME, Pharoah PD, Koessler T, Hampe J, Buch S, Schafmayer C, Tepel J, Schreiber S, Völzke H, Chang-Claude J, Hoffmeister M, Brenner H, Zanke BW, Montpetit A, Hudson TJ, Gallinger S, Campbell H, Dunlop MG. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet. 2008 Dec; 40(12):1426-35. PMID: 19011631; PMCID: PMC2836775.
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    58. Suraweera N, Meijne E, Moody J, Carvajal-Carmona L, Yoshida K, Pollard P, Fitzgibbon J, Riches A, van Laar T, Huiskamp R, Rowan A, Tomlinson IP, Silver A. Mutations of the PU.1 Ets domain are specifically associated with murine radiation-induced, but not human therapy-related, acute myeloid leukaemia. Oncogene. 2005 May 19; 24(22):3678-83. PMID: 15750630.
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    59. Carvajal-Carmona L, Bermudez N, Olivera-Angel M, Estrada L, Ossa J, Bedoya G, Ruiz-Linares A. Abundant mtDNA diversity and ancestral admixture in Colombian criollo cattle (Bos taurus). Genetics. 2003 Nov; 165(3):1457-63. PMID: 14668394; PMCID: PMC1462844.
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    61. Pineda-Trujillo N, Carvajal-Carmona L, Buriticá O, Moreno S, Uribe C, Pineda D, Toro M, García F, Arias W, Bedoya G, Lopera F, Ruiz-Linares A. A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia. Neurosci Lett. 2001 Feb 02; 298(2):87-90. PMID: 11163284.
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    62. Carvajal-Carmona L, Soto ID, Pineda N, Ortíz-Barrientos D, Duque C, Ospina-Duque J, McCarthy M, Montoya P, Alvarez VM, Bedoya G, Ruiz-Linares A. Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia. Am J Hum Genet. 2000 Nov; 67(5):1287-95. PMID: 11032790; PMCID: PMC1288568.