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Page 1
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.
Haque B, Cheerie D, Pan A, Curtis M, Nalpathamkalam T, Nguyen J, Salhab C, Thiruvahindrapuram B, Zhang J, Couse M, Hartley T, Morrow MM, Price EM, Walker S, Malkin D, Roth FP, Costain G. Haque B, et al. Among authors: malkin d. PLoS Genet. 2025 Jan 6;21(1):e1011540. doi: 10.1371/journal.pgen.1011540. eCollection 2025 Jan. PLoS Genet. 2025. PMID: 39761285 Free PMC article.
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: malkin d. 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: malkin d. 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.
Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.
Montellier E, Lemonnier N, Penkert J, Freycon C, Blanchet S, Amadou A, Chuffart F, Fischer NW, Achatz MI, Levine AJ, Goudie C, Malkin D, Bougeard G, Kratz CP, Hainaut P. Montellier E, et al. Among authors: malkin d. iScience. 2024 Nov 1;27(12):111296. doi: 10.1016/j.isci.2024.111296. eCollection 2024 Dec 20. iScience. 2024. PMID: 39634561 Free PMC article.
Update on cancer screening in children with syndromes of bone lesions, hereditary leiomyoma and renal cell carcinoma syndrome, and other rare syndromes.
Michaeli O, Kim SY, Mitchell SG, Jongmans MCJ, Wasserman JD, Perrino MR, Das A, MacFarland SP, Scollon SR, Greer MC, Sobreira N, Gallinger B, Lupo PJ, Malkin D, Schneider KW, Schultz KAP, Foulkes WD, Woodward ER, Stewart DR. Michaeli O, et al. Among authors: malkin d. Clin Cancer Res. 2024 Nov 27. doi: 10.1158/1078-0432.CCR-24-2171. Online ahead of print. Clin Cancer Res. 2024. PMID: 39601780
Development of the Ontario Hereditary Cancer Research Network, a unified registry as a resource for individuals with inherited cancer syndromes: an observational registry creation protocol.
Farncombe KM, Hughes LK, Tuzlali E, Akbari MR, Andrulis IL, Aronson M, Bell K, Brazas MD, Cable-Cibula M, Chan B, Courtot M, Feilotter H, Harland J, Lark K, Lerner-Ellis J, MacDougall E, Malkin D, Narod SA, Panabaker K, Radvanyi L, Rusnak A, Stein L, Kim RH; OHCRN community. Farncombe KM, et al. Among authors: malkin d. BMJ Open. 2024 Nov 24;14(11):e087023. doi: 10.1136/bmjopen-2024-087023. BMJ Open. 2024. PMID: 39581712 Free PMC article.
High detection rate of circulating-tumor DNA from cerebrospinal fluid of children with central nervous system germ cell tumors.
Nakano Y, Burns I, Nobre L, Siddaway R, Rana M, Nesvick C, Bondoc A, Ku M, Yuditskiy R, Ku DTL, Shing MMK, Cheng KKF, Ng HK, Das A, Bennett J, Ramaswamy V, Huang A, Malkin D, Ertl-Wagner B, Dirks P, Bouffet E, Bartels U, Tabori U, Hawkins C, Liu APY. Nakano Y, et al. Among authors: malkin d. Acta Neuropathol Commun. 2024 Nov 20;12(1):178. doi: 10.1186/s40478-024-01886-w. Acta Neuropathol Commun. 2024. PMID: 39568077 Free PMC article.
381 results