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Page 1
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Oh RY, AlMail A, Cheerie D, Guirguis G, Hou H, Yuki KE, Haque B, Thiruvahindrapuram B, Marshall CR, Mendoza-Londono R, Shlien A, Kyriakopoulou LG, Walker S, Dowling JJ, Wilson MD, Costain G. Oh RY, et al. Among authors: shlien a. HGG Adv. 2024 Jul 18;5(3):100299. doi: 10.1016/j.xhgg.2024.100299. Epub 2024 Apr 24. HGG Adv. 2024. PMID: 38659227 Free PMC article.
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
The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study.
Negm L, Chung J, Nobre L, Bennett J, Fernandez NR, Nunes NM, Liu ZA, Komosa M, Aronson M, Zhang C, Stengs L, Bianchi V, Edwards M, Doherty S, Ercan AB, Cardenas MF, Macias M, Lueder MR, Ku M, Johnson M, Chang Y, Dimayacyac JR, Kraya AA, Guo Y, Naky S, Keith J, Gao AF, Munoz DG, Nguyen L, Tsang DS, Lim-Fat MJ, Das S, Shlien A, Ramaswamy V, Huang A, Malkin D, Villani A, Ertl-Wagner B, Levine A, Robinson GW, Pollock BH, Spector LG, Sei S, Dirks PB, Getz G, Nichols KE, Resnick AC, Wheeler DA, Das A, Maruvka YE, Hawkins C, Tabori U. Negm L, et al. Among authors: shlien a. Lancet Oncol. 2025 Jan;26(1):123-135. doi: 10.1016/S1470-2045(24)00640-5. Epub 2024 Dec 16. Lancet Oncol. 2025. PMID: 39701117
tp53 R217H and R242H mutant zebrafish exhibit dysfunctional p53 hallmarks and recapitulate Li-Fraumeni syndrome phenotypes.
Kobar K, Tuzi L, Fiene JA, Burnley E, Galpin KJC, Midgen C, Laverty B, Subasri V, Wen TT, Hirst M, Moksa M, Carles A, Cao Q, Shlien A, Malkin D, Prykhozhij SV, Berman JN. Kobar K, et al. Among authors: shlien a. Biochim Biophys Acta Mol Basis Dis. 2024 Dec 4;1871(3):167612. doi: 10.1016/j.bbadis.2024.167612. Online ahead of print. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 39643218 Free article.
A dataset of transcriptomic effects of camptothecin treatment on early zebrafish embryos.
Prykhozhij SV, Ban K, Brown ZL, Kobar K, Wajnberg G, Fuller C, Chacko S, Lacroix J, Crapoulet N, Midgen C, Shlien A, Malkin D, Berman JN. Prykhozhij SV, et al. Among authors: shlien a. Data Brief. 2024 Oct 16;57:111041. doi: 10.1016/j.dib.2024.111041. eCollection 2024 Dec. Data Brief. 2024. PMID: 39554546 Free PMC article.
Inter-chromosomal contacts demarcate genome topology along a spatial gradient.
Mokhtaridoost M, Chalmers JJ, Soleimanpoor M, McMurray BJ, Lato DF, Nguyen SC, Musienko V, Nash JO, Espeso-Gil S, Ahmed S, Delfosse K, Browning JWL, Barutcu AR, Wilson MD, Liehr T, Shlien A, Aref S, Joyce EF, Weise A, Maass PG. Mokhtaridoost M, et al. Among authors: shlien a. Nat Commun. 2024 Nov 13;15(1):9813. doi: 10.1038/s41467-024-53983-y. Nat Commun. 2024. PMID: 39532865 Free PMC article.
The Virtual Child.
Gilbertson RJ, Behjati S, Böttcher AL, Bronner ME, Burridge M, Clausing H, Clifford H, Danaher T, Donovan LK, Drost J, Eggermont AMM, Emerson C, Flores MG, Hamerlik P, Jabado N, Jones A, Kaessmann H, Kleinman CL, Kool M, Kutscher LM, Lindberg G, Linnane E, Marioni JC, Maris JM, Monje M, Macaskill A, Niederer S, Northcott PA, Peeters E, Plieger-van Solkema W, Preußner L, Rios AC, Rippe K, Sandford P, Sgourakis NG, Shlien A, Smith P, Straathof K, Sullivan PJ, Suvà ML, Taylor MD, Thompson E, Vento-Tormo R, Wainwright BJ, Wechsler-Reya RJ, Westermann F, Winslade S, Al-Lazikani B, Pfister SM. Gilbertson RJ, et al. Among authors: shlien a. Cancer Discov. 2024 Apr 4;14(4):663-668. doi: 10.1158/2159-8290.CD-23-1500. Cancer Discov. 2024. PMID: 38571421
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer SL, Ro… See abstract for full author list ➔ Ercan AB, et al. Among authors: shlien a. Lancet Oncol. 2024 May;25(5):668-682. doi: 10.1016/S1470-2045(24)00026-3. Epub 2024 Mar 26. Lancet Oncol. 2024. PMID: 38552658
102 results