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Page 1
Cell-type-specific meQTLs extend melanoma GWAS annotation beyond eQTLs and inform melanocyte gene-regulatory mechanisms.
Zhang T, Choi J, Dilshat R, Einarsdóttir BÓ, Kovacs MA, Xu M, Malasky M, Chowdhury S, Jones K, Bishop DT, Goldstein AM, Iles MM, Landi MT, Law MH, Shi J, Steingrímsson E, Brown KM. Zhang T, et al. Among authors: malasky m. Am J Hum Genet. 2021 Sep 2;108(9):1631-1646. doi: 10.1016/j.ajhg.2021.06.018. Epub 2021 Jul 21. Am J Hum Genet. 2021. PMID: 34293285 Free PMC article.
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.
Landi MT, Bishop DT, MacGregor S, Machiela MJ, Stratigos AJ, Ghiorzo P, Brossard M, Calista D, Choi J, Fargnoli MC, Zhang T, Rodolfo M, Trower AJ, Menin C, Martinez J, Hadjisavvas A, Song L, Stefanaki I, Scolyer R, Yang R, Goldstein AM, Potrony M, Kypreou KP, Pastorino L, Queirolo P, Pellegrini C, Cattaneo L, Zawistowski M, Gimenez-Xavier P, Rodriguez A, Elefanti L, Manoukian S, Rivoltini L, Smith BH, Loizidou MA, Del Regno L, Massi D, Mandala M, Khosrotehrani K, Akslen LA, Amos CI, Andresen PA, Avril MF, Azizi E, Soyer HP, Bataille V, Dalmasso B, Bowdler LM, Burdon KP, Chen WV, Codd V, Craig JE, Dębniak T, Falchi M, Fang S, Friedman E, Simi S, Galan P, Garcia-Casado Z, Gillanders EM, Gordon S, Green A, Gruis NA, Hansson J, Harland M, Harris J, Helsing P, Henders A, Hočevar M, Höiom V, Hunter D, Ingvar C, Kumar R, Lang J, Lathrop GM, Lee JE, Li X, Lubiński J, Mackie RM, Malt M, Malvehy J, McAloney K, Mohamdi H, Molven A, Moses EK, Neale RE, Novaković S, Nyholt DR, Olsson H, Orr N, Fritsche LG, Puig-Butille JA, Qureshi AA, Radford-Smith GL, Randerson-Moor J, Requena C, Rowe C, Samani NJ, Sanna M, Schadendorf D, Schulze HJ, Simms LA, Smithers M, Song F, Swerdlow AJ, van der Stoep N,… See abstract for full author list ➔ Landi MT, et al. Among authors: malasky m. Nat Genet. 2020 May;52(5):494-504. doi: 10.1038/s41588-020-0611-8. Epub 2020 Apr 27. Nat Genet. 2020. PMID: 32341527 Free PMC article.
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.
Yang XR, Rotunno M, Xiao Y, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Bennett H, Graham C, Sampson JN, Malasky M, Vogt A, Zhu B, Bianchi-Scarra G, Bruno W, Queirolo P, Fornarini G, Hansson J, Tuominen R, Burdett L, Hicks B, Hutchinson A, Jones K, Yeager M, Chanock SJ, Landi MT, Höiom V, Olsson H, Gruis N, Ghiorzo P, Tucker MA, Goldstein AM. Yang XR, et al. Among authors: malasky m. Hum Genet. 2016 Nov;135(11):1241-1249. doi: 10.1007/s00439-016-1715-1. Epub 2016 Jul 23. Hum Genet. 2016. PMID: 27449771 Free PMC article.
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA. Kocak H, et al. Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18. Genes Dev. 2014. PMID: 25233904 Free PMC article.
A high-density admixture map for disease gene discovery in african americans.
Smith MW, Patterson N, Lautenberger JA, Truelove AL, McDonald GJ, Waliszewska A, Kessing BD, Malasky MJ, Scafe C, Le E, De Jager PL, Mignault AA, Yi Z, De The G, Essex M, Sankale JL, Moore JH, Poku K, Phair JP, Goedert JJ, Vlahov D, Williams SM, Tishkoff SA, Winkler CA, De La Vega FM, Woodage T, Sninsky JJ, Hafler DA, Altshuler D, Gilbert DA, O'Brien SJ, Reich D. Smith MW, et al. Among authors: malasky mj. Am J Hum Genet. 2004 May;74(5):1001-13. doi: 10.1086/420856. Epub 2004 Apr 14. Am J Hum Genet. 2004. PMID: 15088270 Free PMC article.
Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.
Stephens JC, Reich DE, Goldstein DB, Shin HD, Smith MW, Carrington M, Winkler C, Huttley GA, Allikmets R, Schriml L, Gerrard B, Malasky M, Ramos MD, Morlot S, Tzetis M, Oddoux C, di Giovine FS, Nasioulas G, Chandler D, Aseev M, Hanson M, Kalaydjieva L, Glavac D, Gasparini P, Kanavakis E, Claustres M, Kambouris M, Ostrer H, Duff G, Baranov V, Sibul H, Metspalu A, Goldman D, Martin N, Duffy D, Schmidtke J, Estivill X, O'Brien SJ, Dean M. Stephens JC, et al. Among authors: malasky m. Am J Hum Genet. 1998 Jun;62(6):1507-15. doi: 10.1086/301867. Am J Hum Genet. 1998. PMID: 9585595 Free PMC article.
Association of Aflatoxin and Gallbladder Cancer.
Koshiol J, Gao YT, Dean M, Egner P, Nepal C, Jones K, Wang B, Rashid A, Luo W, Van Dyke AL, Ferreccio C, Malasky M, Shen MC, Zhu B, Andersen JB, Hildesheim A, Hsing AW, Groopman J. Koshiol J, et al. Among authors: malasky m. Gastroenterology. 2017 Aug;153(2):488-494.e1. doi: 10.1053/j.gastro.2017.04.005. Epub 2017 Apr 17. Gastroenterology. 2017. PMID: 28428144 Free PMC article.
Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.
Pathak A, Seipel K, Pemov A, Dewan R, Brown C, Ravichandran S, Luke BT, Malasky M, Suman S, Yeager M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Gatti RA, Caporaso NE, Mulvihill JJ, Goldin LR, Pabst T, McMaster ML, Stewart DR. Pathak A, et al. Among authors: malasky m. Haematologica. 2016 Jul;101(7):846-52. doi: 10.3324/haematol.2015.130799. Epub 2015 Dec 31. Haematologica. 2016. PMID: 26721895 Free PMC article.
An optimized protocol for retina single-cell RNA sequencing.
Fadl BR, Brodie SA, Malasky M, Boland JF, Kelly MC, Kelley MW, Boger E, Fariss R, Swaroop A, Campello L. Fadl BR, et al. Among authors: malasky m. Mol Vis. 2020 Oct 10;26:705-717. eCollection 2020. Mol Vis. 2020. PMID: 33088174 Free PMC article.
16 results