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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.
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.
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.
Genotype by sex interactions in ankylosing spondylitis.
Li Z, McRae AF, Wang G, Ellis JJ, Whyte J, Kenna TJ, Brown MA, Evans DM. Li Z, et al. Among authors: ellis jj. Nat Genet. 2023 Jan;55(1):14-16. doi: 10.1038/s41588-022-01250-5. Epub 2023 Jan 9. Nat Genet. 2023. PMID: 36624341 No abstract available.
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.
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.
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.
Zhou T, Souzeau E, Sharma S, Siggs OM, Goldberg I, Healey PR, Graham S, Hewitt AW, Mackey DA, Casson RJ, Landers J, Mills R, Ellis J, Leo P, Brown MA, MacGregor S, Burdon KP, Craig JE. Zhou T, et al. Among authors: ellis j. Mol Genet Genomic Med. 2016 Oct 3;4(6):624-633. doi: 10.1002/mgg3.248. eCollection 2016 Nov. Mol Genet Genomic Med. 2016. PMID: 27896285 Free PMC article.
Childhood acute myeloid leukemia shows a high level of germline predisposition.
Samaraweera SE, Wang PPS, Li KL, Casolari DA, Feng J, Pinese M, Maung KZY, Leo P, Cowley M, Perkins K, Smith AM, Ellis J, Wee A, Hiwase DK, Scott HS, Schreiber AW, Brown AL, Deans AJ, Ross DM, Moore AS, Gonda TJ, Hahn CN, D'Andrea RJ. Samaraweera SE, et al. Among authors: ellis j. Blood. 2021 Dec 2;138(22):2293-2298. doi: 10.1182/blood.2021012666. Blood. 2021. PMID: 34521114 Free article. No abstract available.
4,280 results