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Page 1
Genetic predisposition to mosaic Y chromosome loss in blood.
Thompson DJ, Genovese G, Halvardson J, Ulirsch JC, Wright DJ, Terao C, Davidsson OB, Day FR, Sulem P, Jiang Y, Danielsson M, Davies H, Dennis J, Dunlop MG, Easton DF, Fisher VA, Zink F, Houlston RS, Ingelsson M, Kar S, Kerrison ND, Kinnersley B, Kristjansson RP, Law PJ, Li R, Loveday C, Mattisson J, McCarroll SA, Murakami Y, Murray A, Olszewski P, Rychlicka-Buniowska E, Scott RA, Thorsteinsdottir U, Tomlinson I, Moghadam BT, Turnbull C, Wareham NJ, Gudbjartsson DF; International Lung Cancer Consortium (INTEGRAL-ILCCO); Breast Cancer Association Consortium; Consortium of Investigators of Modifiers of BRCA1/2; Endometrial Cancer Association Consortium; Ovarian Cancer Association Consortium; Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) Consortium; Kidney Cancer GWAS Meta-Analysis Project; eQTLGen Consortium; Biobank-based Integrative Omics Study (BIOS) Consortium; 23andMe Research Team; Kamatani Y, Hoffmann ER, Jackson SP, Stefansson K, Auton A, Ong KK, Machiela MJ, Loh PR, Dumanski JP, Chanock SJ, Forsberg LA, Perry JRB. Thompson DJ, et al. Among authors: machiela mj. Nature. 2019 Nov;575(7784):652-657. doi: 10.1038/s41586-019-1765-3. Epub 2019 Nov 20. Nature. 2019. PMID: 31748747 Free PMC article.
Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves cross-ancestry prediction.
Hoffmann TJ, Graff RE, Madduri RK, Rodriguez AA, Cario CL, Feng K, Jiang Y, Wang A, Klein RJ, Pierce BL, Eggener S, Tong L, Blot W, Long J, Goss LB, Darst BF, Rebbeck T, Lachance J, Andrews C, Adebiyi AO, Adusei B, Aisuodionoe-Shadrach OI, Fernandez PW, Jalloh M, Janivara R, Chen WC, Mensah JE, Agalliu I, Berndt SI, Shelley JP, Schaffer K, Machiela MJ, Freedman ND, Huang WY, Li SA, Goodman PJ, Till C, Thompson I, Lilja H, Ranatunga DK, Presti J, Van Den Eeden SK, Chanock SJ, Mosley JD, Conti DV, Haiman CA, Justice AC, Kachuri L, Witte JS. Hoffmann TJ, et al. Among authors: machiela mj. medRxiv [Preprint]. 2024 Aug 20:2023.10.27.23297676. doi: 10.1101/2023.10.27.23297676. medRxiv. 2024. PMID: 37961155 Free PMC article. Preprint.
ArCH: improving the performance of clonal hematopoiesis variant calling and interpretation.
Chan ICC, Panchot A, Schmidt E, McNulty S, Wiley BJ, Liu J, Turner K, Moukarzel L, Wong WSW, Tran D, Beeler JS, Batchi-Bouyou AL, Machiela MJ, Karyadi DM, Krajacich BJ, Zhao J, Kruglyak S, Lajoie B, Levy S, Patel M, Kantoff PW, Mason CE, Link DC, Druley TE, Stopsack KH, Bolton KL. Chan ICC, et al. Among authors: machiela mj. Bioinformatics. 2024 Mar 29;40(4):btae121. doi: 10.1093/bioinformatics/btae121. Bioinformatics. 2024. PMID: 38485690 Free PMC article.
Detectable clonal mosaicism in the human genome.
Machiela MJ, Chanock SJ. Machiela MJ, et al. Semin Hematol. 2013 Oct;50(4):348-59. doi: 10.1053/j.seminhematol.2013.09.001. Semin Hematol. 2013. PMID: 24246702 Free PMC article. Review.
GWAS is going to the dogs.
Machiela MJ, Chanock SJ. Machiela MJ, et al. Genome Biol. 2014 Mar 13;15(3):105. doi: 10.1186/gb4166. Genome Biol. 2014. PMID: 25002063 Free PMC article.
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
Al Olama AA, Kote-Jarai Z, Berndt SI, Conti DV, Schumacher F, Han Y, Benlloch S, Hazelett DJ, Wang Z, Saunders E, Leongamornlert D, Lindstrom S, Jugurnauth-Little S, Dadaev T, Tymrakiewicz M, Stram DO, Rand K, Wan P, Stram A, Sheng X, Pooler LC, Park K, Xia L, Tyrer J, Kolonel LN, Le Marchand L, Hoover RN, Machiela MJ, Yeager M, Burdette L, Chung CC, Hutchinson A, Yu K, Goh C, Ahmed M, Govindasami K, Guy M, Tammela TL, Auvinen A, Wahlfors T, Schleutker J, Visakorpi T, Leinonen KA, Xu J, Aly M, Donovan J, Travis RC, Key TJ, Siddiq A, Canzian F, Khaw KT, Takahashi A, Kubo M, Pharoah P, Pashayan N, Weischer M, Nordestgaard BG, Nielsen SF, Klarskov P, Røder MA, Iversen P, Thibodeau SN, McDonnell SK, Schaid DJ, Stanford JL, Kolb S, Holt S, Knudsen B, Coll AH, Gapstur SM, Diver WR, Stevens VL, Maier C, Luedeke M, Herkommer K, Rinckleb AE, Strom SS, Pettaway C, Yeboah ED, Tettey Y, Biritwum RB, Adjei AA, Tay E, Truelove A, Niwa S, Chokkalingam AP, Cannon-Albright L, Cybulski C, Wokołorczyk D, Kluźniak W, Park J, Sellers T, Lin HY, Isaacs WB, Partin AW, Brenner H, Dieffenbach AK, Stegmaier C, Chen C, Giovannucci EL, Ma J, Stampfer M, Penney KL, Mucci L, John EM, Ingles SA, Kittles … See abstract for full author list ➔ Al Olama AA, et al. Among authors: machiela mj. Nat Genet. 2014 Oct;46(10):1103-9. doi: 10.1038/ng.3094. Epub 2014 Sep 14. Nat Genet. 2014. PMID: 25217961 Free PMC article.
Identification of novel genetic markers of breast cancer survival.
Guo Q, Schmidt MK, Kraft P, Canisius S, Chen C, Khan S, Tyrer J, Bolla MK, Wang Q, Dennis J, Michailidou K, Lush M, Kar S, Beesley J, Dunning AM, Shah M, Czene K, Darabi H, Eriksson M, Lambrechts D, Weltens C, Leunen K, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Blomqvist C, Aittomäki K, Fagerholm R, Muranen TA, Couch FJ, Olson JE, Vachon C, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Broeks A, Hogervorst FB, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Hopper JL, Tsimiklis H, Apicella C, Southey MC, Cox A, Cross SS, Reed MW, Giles GG, Milne RL, McLean C, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Hooning MJ, Hollestelle A, Martens JW, van den Ouweland AM, Marme F, Schneeweiss A, Yang R, Burwinkel B, Figueroa J, Chanock SJ, Lissowska J, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Brenner H, Dieffenbach AK, Arndt V, Holleczek B, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Li J, Brand JS, Humphreys K, Devilee P, Tollenaar RA, Seynaeve C, Radice P, Peterlongo P, Bonanni B, Mariani P, Fasching PA, Beckmann MW, Hein A, Ekici AB, Chenevix-Trench G, Balleine R; kConFab Investigators; Phillips KA, Benit… See abstract for full author list ➔ Guo Q, et al. Among authors: machiela mj. J Natl Cancer Inst. 2015 Apr 18;107(5):djv081. doi: 10.1093/jnci/djv081. Print 2015 May. J Natl Cancer Inst. 2015. PMID: 25890600 Free PMC article.
138 results