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Page 1
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo.
Nakamori M, Panigrahi GB, Lanni S, Gall-Duncan T, Hayakawa H, Tanaka H, Luo J, Otabe T, Li J, Sakata A, Caron MC, Joshi N, Prasolava T, Chiang K, Masson JY, Wold MS, Wang X, Lee MYWT, Huddleston J, Munson KM, Davidson S, Layeghifard M, Edward LM, Gallon R, Santibanez-Koref M, Murata A, Takahashi MP, Eichler EE, Shlien A, Nakatani K, Mochizuki H, Pearson CE. Nakamori M, et al. Among authors: shlien a. Nat Genet. 2020 Feb;52(2):146-159. doi: 10.1038/s41588-019-0575-8. Epub 2020 Feb 14. Nat Genet. 2020. PMID: 32060489 Free PMC article.
Vaginal Metastases of Wilms' Tumor in a Pediatric Patient: A Rare Case.
Arion K, Dufour S, Ramphal R, Villani A, Malkin D, Shlien A, Kanwar N, Sawyer S, Dumont T. Arion K, et al. Among authors: shlien a. J Pediatr Adolesc Gynecol. 2023 Aug;36(4):424-427. doi: 10.1016/j.jpag.2023.01.001. Epub 2023 Jan 18. J Pediatr Adolesc Gynecol. 2023. PMID: 36669618
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
Shlien A, Campbell BB, de Borja R, Alexandrov LB, Merico D, Wedge D, Van Loo P, Tarpey PS, Coupland P, Behjati S, Pollett A, Lipman T, Heidari A, Deshmukh S, Avitzur N, Meier B, Gerstung M, Hong Y, Merino DM, Ramakrishna M, Remke M, Arnold R, Panigrahi GB, Thakkar NP, Hodel KP, Henninger EE, Göksenin AY, Bakry D, Charames GS, Druker H, Lerner-Ellis J, Mistry M, Dvir R, Grant R, Elhasid R, Farah R, Taylor GP, Nathan PC, Alexander S, Ben-Shachar S, Ling SC, Gallinger S, Constantini S, Dirks P, Huang A, Scherer SW, Grundy RG, Durno C, Aronson M, Gartner A, Meyn MS, Taylor MD, Pursell ZF, Pearson CE, Malkin D, Futreal PA, Stratton MR, Bouffet E, Hawkins C, Campbell PJ, Tabori U; Biallelic Mismatch Repair Deficiency Consortium. Shlien A, et al. Nat Genet. 2015 Mar;47(3):257-62. doi: 10.1038/ng.3202. Epub 2015 Feb 2. Nat Genet. 2015. PMID: 25642631
Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors.
Anderson ND, de Borja R, Young MD, Fuligni F, Rosic A, Roberts ND, Hajjar S, Layeghifard M, Novokmet A, Kowalski PE, Anaka M, Davidson S, Zarrei M, Id Said B, Schreiner LC, Marchand R, Sitter J, Gokgoz N, Brunga L, Graham GT, Fullam A, Pillay N, Toretsky JA, Yoshida A, Shibata T, Metzler M, Somers GR, Scherer SW, Flanagan AM, Campbell PJ, Schiffman JD, Shago M, Alexandrov LB, Wunder JS, Andrulis IL, Malkin D, Behjati S, Shlien A. Anderson ND, et al. Among authors: shlien a. Science. 2018 Aug 31;361(6405):eaam8419. doi: 10.1126/science.aam8419. Science. 2018. PMID: 30166462 Free PMC article.
Lineage-defined leiomyosarcoma subtypes emerge years before diagnosis and determine patient survival.
Anderson ND, Babichev Y, Fuligni F, Comitani F, Layeghifard M, Venier RE, Dentro SC, Maheshwari A, Guram S, Wunker C, Thompson JD, Yuki KE, Hou H, Zatzman M, Light N, Bernardini MQ, Wunder JS, Andrulis IL, Ferguson P, Razak ARA, Swallow CJ, Dowling JJ, Al-Awar RS, Marcellus R, Rouzbahman M, Gerstung M, Durocher D, Alexandrov LB, Dickson BC, Gladdy RA, Shlien A. Anderson ND, et al. Among authors: shlien a. Nat Commun. 2021 Jul 23;12(1):4496. doi: 10.1038/s41467-021-24677-6. Nat Commun. 2021. PMID: 34301934 Free PMC article.
TMBur: a distributable tumor mutation burden approach for whole genome sequencing.
Titmuss E, Corbett RD, Davidson S, Abbasi S, Williamson LM, Pleasance ED, Shlien A, Renouf DJ, Jones SJM, Laskin J, Marra MA. Titmuss E, et al. Among authors: shlien a. BMC Med Genomics. 2022 Sep 7;15(1):190. doi: 10.1186/s12920-022-01348-z. BMC Med Genomics. 2022. PMID: 36071521 Free PMC article.
Widespread hypertranscription in aggressive human cancers.
Zatzman M, Fuligni F, Ripsman R, Suwal T, Comitani F, Edward LM, Denroche R, Jang GH, Notta F, Gallinger S, Selvanathan SP, Toretsky JA, Hellmann MD, Tabori U, Huang A, Shlien A. Zatzman M, et al. Among authors: shlien a. Sci Adv. 2022 Nov 25;8(47):eabn0238. doi: 10.1126/sciadv.abn0238. Epub 2022 Nov 23. Sci Adv. 2022. PMID: 36417526 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.
Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis.
Light N, Layeghifard M, Attery A, Subasri V, Zatzman M, Anderson ND, Hatkar R, Blay S, Chen D, Novokmet A, Fuligni F, Tran J, de Borja R, Agarwal H, Waldman L, Abegglen LM, Albertson D, Finlay JL, Hansford JR, Behjati S, Villani A, Gerstung M, Alexandrov LB, Somers GR, Schiffman JD, Rotter V, Malkin D, Shlien A. Light N, et al. Among authors: shlien a. Nat Commun. 2023 Jan 5;14(1):77. doi: 10.1038/s41467-022-35727-y. Nat Commun. 2023. PMID: 36604421 Free PMC article.
96 results