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Page 1
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.
Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, Pellagatti A, Wainscoat JS, Hellstrom-Lindberg E, Gambacorti-Passerini C, Godfrey AL, Rapado I, Cvejic A, Rance R, McGee C, Ellis P, Mudie LJ, Stephens PJ, McLaren S, Massie CE, Tarpey PS, Varela I, Nik-Zainal S, Davies HR, Shlien A, Jones D, Raine K, Hinton J, Butler AP, Teague JW, Baxter EJ, Score J, Galli A, Della Porta MG, Travaglino E, Groves M, Tauro S, Munshi NC, Anderson KC, El-Naggar A, Fischer A, Mustonen V, Warren AJ, Cross NC, Green AR, Futreal PA, Stratton MR, Campbell PJ; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium. Papaemmanuil E, et al. Among authors: shlien a. N Engl J Med. 2011 Oct 13;365(15):1384-95. doi: 10.1056/NEJMoa1103283. Epub 2011 Sep 26. N Engl J Med. 2011. PMID: 21995386 Free PMC article.
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A, Davidson S, Kanwar N, Lo WW, Li Y, Cohen-Gogo S, Fuligni F, Edward LM, Light N, Layeghifard M, Harripaul R, Waldman L, Gallinger B, Comitani F, Brunga L, Hayes R, Anderson ND, Ramani AK, Yuki KE, Blay S, Johnstone B, Inglese C, Hammad R, Goudie C, Shuen A, Wasserman JD, Venier RE, Eliou M, Lorenti M, Ryan CA, Braga M, Gloven-Brown M, Han J, Montero M, Spatare F, Whitlock JA, Scherer SW, Chun K, Somerville MJ, Hawkins C, Abdelhaleem M, Ramaswamy V, Somers GR, Kyriakopoulou L, Hitzler J, Shago M, Morgenstern DA, Tabori U, Meyn S, Irwin MS, Malkin D, Shlien A. Villani A, et al. Among authors: shlien a. Nat Cancer. 2023 Feb;4(2):203-221. doi: 10.1038/s43018-022-00474-y. Epub 2022 Dec 30. Nat Cancer. 2023. PMID: 36585449 Free PMC article.
Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia.
Renzi S, Algawahmed F, Davidson S, Langenberg KPS, Fuligni F, Ali S, Anderson N, Brunga L, Bartram J, Abdelhaleem M, Naqvi A, Beimnet K, Schuh A, Tierens A, Malkin D, Shlien A, Shago M, Villani A. Renzi S, et al. Among authors: shlien a. Curr Oncol. 2023 Jun 21;30(7):5946-5952. doi: 10.3390/curroncol30070444. Curr Oncol. 2023. PMID: 37503586 Free PMC article.
Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib.
Ingley KM, Zatzman M, Fontebasso AM, Lo W, Subasri V, Goldenberg A, Li Y, Davidson S, Kanwar N, Waldman L, Brunga L, Babichev Y, Demicco EG, Gupta A, Szybowska M, Thipphavong S, Malkin D, Villani A, Shlien A, Gladdy RA, Kim RH. Ingley KM, et al. Among authors: shlien a. NPJ Genom Med. 2024 Mar 27;9(1):24. doi: 10.1038/s41525-024-00405-z. NPJ Genom Med. 2024. PMID: 38538628 Free PMC article.
Trio RNA sequencing in a cohort of medically complex children.
Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ. Deshwar AR, et al. Among authors: shlien a. Am J Hum Genet. 2023 May 4;110(5):895-900. doi: 10.1016/j.ajhg.2023.03.006. Epub 2023 Mar 28. Am J Hum Genet. 2023. PMID: 36990084 Free PMC article.
Spontaneous expression of the CIC::DUX4 fusion oncoprotein from a conditional allele potently drives sarcoma formation in genetically engineered mice.
Hendrickson PG, Oristian KM, Browne MR, Luo L, Ma Y, Cardona DM, Nash JO, Ballester PL, Davidson S, Shlien A, Linardic CM, Kirsch DG. Hendrickson PG, et al. Among authors: shlien a. Oncogene. 2024 Apr;43(16):1223-1230. doi: 10.1038/s41388-024-02984-8. Epub 2024 Feb 27. Oncogene. 2024. PMID: 38413794 Free PMC article.
The BRD4-NUT Fusion Alone Drives Malignant Transformation of NUT Carcinoma.
Durall RT, Huang J, Wojenski L, Huang Y, Gokhale PC, Leeper BA, Nash JO, Ballester PL, Davidson S, Shlien A, Sotirakis E, Bertaux F, Dubus V, Luo J, Wu CJ, Keskin DB, Eagen KP, Shapiro GI, French CA. Durall RT, et al. Among authors: shlien a. Cancer Res. 2023 Dec 1;83(23):3846-3860. doi: 10.1158/0008-5472.CAN-23-2545. Cancer Res. 2023. PMID: 37819236 Free PMC article.
BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.
Randall MP, Egolf LE, Vaksman Z, Samanta M, Tsang M, Groff D, Evans JP, Rokita JL, Layeghifard M, Shlien A, Maris JM, Diskin SJ, Bosse KR. Randall MP, et al. Among authors: shlien a. bioRxiv [Preprint]. 2023 Feb 3:2023.01.31.525066. doi: 10.1101/2023.01.31.525066. bioRxiv. 2023. PMID: 36778420 Free PMC article. Updated. Preprint.
96 results