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Page 1
Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.
Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, Bell R, Hu H, Shankaracharya, Huff CD, Ellis J, Li J, Makunin IV, John EM, Andrulis IL, Terry MB, Daly M, Buys SS, Snyder C, Lynch HT, Devilee P, Giles GG, Hopper JL, Feng BJ, Lesueur F, Tavtigian SV, Southey MC, Goldgar DE. Park DJ, et al. Among authors: ellis j. Cancer Discov. 2014 Jul;4(7):804-15. doi: 10.1158/2159-8290.CD-14-0212. Epub 2014 May 2. Cancer Discov. 2014. PMID: 25050558 Free PMC article.
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
Li J, Meeks H, Feng BJ, Healey S, Thorne H, Makunin I, Ellis J; kConFab Investigators; Campbell I, Southey M, Mitchell G, Clouston D, Kirk J, Goldgar D, Chenevix-Trench G. Li J, et al. Among authors: ellis j. J Med Genet. 2016 Jan;53(1):34-42. doi: 10.1136/jmedgenet-2015-103452. Epub 2015 Nov 3. J Med Genet. 2016. PMID: 26534844 Free PMC article.
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.
Zhou T, Souzeau E, Sharma S, Landers J, Mills R, Goldberg I, Healey PR, Graham S, Hewitt AW, Mackey DA, Galanopoulos A, Casson RJ, Ruddle JB, Ellis J, Leo P, Brown MA, MacGregor S, Lynn DJ, Burdon KP, Craig JE. Zhou T, et al. Among authors: ellis j. PLoS One. 2017 Mar 6;12(3):e0172427. doi: 10.1371/journal.pone.0172427. eCollection 2017. PLoS One. 2017. PMID: 28264060 Free PMC article.
Analysis of human leukocyte antigen associations in human papillomavirus-positive and -negative head and neck cancer: Comparison with cervical cancer.
Ekanayake Weeramange C, Shu D, Tang KD, Batra J, Ladwa R, Kenny L, Vasani S, Frazer IH, Dolcetti R, Ellis JJ, Sturm RA, Leo P, Punyadeera C. Ekanayake Weeramange C, et al. Among authors: ellis jj. Cancer. 2022 May 15;128(10):1937-1947. doi: 10.1002/cncr.34148. Epub 2022 Feb 17. Cancer. 2022. PMID: 35176174 Free PMC article.
Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma.
Zhou T, Souzeau E, Siggs OM, Landers J, Mills R, Goldberg I, Healey PR, Graham S, Hewitt AW, Mackey DA, Galanopoulos A, Casson RJ, Ruddle JB, Ellis J, Leo P, Brown MA, MacGregor S, Sharma S, Burdon KP, Craig JE. Zhou T, et al. Among authors: ellis j. Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1537-1544. doi: 10.1167/iovs.16-21049. Invest Ophthalmol Vis Sci. 2017. PMID: 28282485 Free article.
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
Lucas SEM, Zhou T, Blackburn NB, Mills RA, Ellis J, Leo P, Souzeau E, Ridge B, Charlesworth JC, Lindsay R, Craig JE, Burdon KP. Lucas SEM, et al. Among authors: ellis j. PLoS One. 2018 Jun 20;13(6):e0199178. doi: 10.1371/journal.pone.0199178. eCollection 2018. PLoS One. 2018. PMID: 29924831 Free PMC article.
Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.
Johnson SR, Ellis JJ, Leo PJ, Anderson LK, Ganti U, Harris JE, Curran JA, McInerney-Leo AM, Paramalingam N, Song X, Conwell LS, Harris M, Jones TW, Brown MA, Davis EA, Duncan EL. Johnson SR, et al. Among authors: ellis jj. Pediatr Diabetes. 2019 Feb;20(1):57-64. doi: 10.1111/pedi.12766. Epub 2018 Nov 14. Pediatr Diabetes. 2019. PMID: 30191644
Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.
Stark MS, Woods SL, Gartside MG, Bonazzi VF, Dutton-Regester K, Aoude LG, Chow D, Sereduk C, Niemi NM, Tang N, Ellis JJ, Reid J, Zismann V, Tyagi S, Muzny D, Newsham I, Wu Y, Palmer JM, Pollak T, Youngkin D, Brooks BR, Lanagan C, Schmidt CW, Kobe B, MacKeigan JP, Yin H, Brown KM, Gibbs R, Trent J, Hayward NK. Stark MS, et al. Among authors: ellis jj. Nat Genet. 2011 Dec 25;44(2):165-9. doi: 10.1038/ng.1041. Nat Genet. 2011. PMID: 22197930 Free PMC article.
The T-cell Receptor Repertoire Influences the Tumor Microenvironment and Is Associated with Survival in Aggressive B-cell Lymphoma.
Keane C, Gould C, Jones K, Hamm D, Talaulikar D, Ellis J, Vari F, Birch S, Han E, Wood P, Le-Cao KA, Green MR, Crooks P, Jain S, Tobin J, Steptoe RJ, Gandhi MK. Keane C, et al. Among authors: ellis j. Clin Cancer Res. 2017 Apr 1;23(7):1820-1828. doi: 10.1158/1078-0432.CCR-16-1576. Epub 2016 Sep 20. Clin Cancer Res. 2017. PMID: 27649554
4,281 results