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Page 1
Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.
Hahn CN, Brautigan PJ, Chong CE, Janssan A, Venugopal P, Lee Y, Tims AE, Horwitz MS, Klingler-Hoffmann M, Scott HS. Hahn CN, et al. Among authors: scott hs. Leukemia. 2015 Aug;29(8):1795-7. doi: 10.1038/leu.2015.40. Epub 2015 Feb 13. Leukemia. 2015. PMID: 25676417 No abstract available.
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome.
Jongmans MC, Kuiper RP, Carmichael CL, Wilkins EJ, Dors N, Carmagnac A, Schouten-van Meeteren AY, Li X, Stankovic M, Kamping E, Bengtsson H, Schoenmakers EF, van Kessel AG, Hoogerbrugge PM, Hahn CN, Brons PP, Scott HS, Hoogerbrugge N. Jongmans MC, et al. Among authors: scott hs. Leukemia. 2010 Jan;24(1):242-6. doi: 10.1038/leu.2009.210. Epub 2009 Oct 15. Leukemia. 2010. PMID: 19946261 No abstract available.
A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone.
Hahn CN, Ross DM, Feng J, Beligaswatte A, Hiwase DK, Parker WT, Ho M, Zawitkowski M, Ambler KL, Cheetham GD, Lee YK, Babic M, Butcher CM, Engler GA, Brown AL, D'Andrea RJ, Lewis ID, Schreiber AW, To LB, Scott HS. Hahn CN, et al. Among authors: scott hs. Leukemia. 2015 Oct;29(10):2101-4. doi: 10.1038/leu.2015.67. Epub 2015 Mar 9. Leukemia. 2015. PMID: 25748685 Free PMC article. No abstract available.
Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene.
Ross DM, Altamura HK, Hahn CN, Nicola M, Yeoman AL, Holloway MR, Geoghegan J, Feng J, Schreiber AW, Branford S, Moore S, Scott HS. Ross DM, et al. Among authors: scott hs. Leukemia. 2016 Jun;30(6):1402-5. doi: 10.1038/leu.2015.301. Epub 2015 Oct 27. Leukemia. 2016. PMID: 26503642 No abstract available.
A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.
Casolari DA, Nguyen T, Butcher CM, Iarossi DG, Hahn CN, Bray SC, Neufing P, Parker WT, Feng J, Maung KZY, Wee A, Vidovic L, Kok CH, Bardy PG, Branford S, Lewis ID, Lane SW, Scott HS, Ross DM, D'Andrea RJ. Casolari DA, et al. Among authors: scott hs. Sci Rep. 2017 May 26;7(1):2467. doi: 10.1038/s41598-017-02655-7. Sci Rep. 2017. PMID: 28550306 Free PMC article.
Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes.
Chong CE, Venugopal P, Stokes PH, Lee YK, Brautigan PJ, Yeung DTO, Babic M, Engler GA, Lane SW, Klingler-Hoffmann M, Matthews JM, D'Andrea RJ, Brown AL, Hahn CN, Scott HS. Chong CE, et al. Among authors: scott hs. Leukemia. 2018 Jan;32(1):194-202. doi: 10.1038/leu.2017.196. Epub 2017 Jun 23. Leukemia. 2018. PMID: 28642594 Free PMC article.
A four-gene LincRNA expression signature predicts risk in multiple cohorts of acute myeloid leukemia patients.
Beck D, Thoms JAI, Palu C, Herold T, Shah A, Olivier J, Boelen L, Huang Y, Chacon D, Brown A, Babic M, Hahn C, Perugini M, Zhou X, Huntly BJ, Schwarzer A, Klusmann JH, Berdel WE, Wörmann B, Büchner T, Hiddemann W, Bohlander SK, To LB, Scott HS, Lewis ID, D'Andrea RJ, Wong JWH, Pimanda JE. Beck D, et al. Among authors: scott hs. Leukemia. 2018 Feb;32(2):263-272. doi: 10.1038/leu.2017.210. Epub 2017 Jul 4. Leukemia. 2018. PMID: 28674423
ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II).
De Sousa SMC, Stowasser M, Feng J, Schreiber AW, Wang P, Hahn CN, Gordon RD, Torpy DJ, Scott HS, Gagliardi L. De Sousa SMC, et al. Among authors: scott hs. J Hum Hypertens. 2017 Dec;31(12):857-859. doi: 10.1038/jhh.2017.71. Epub 2017 Oct 12. J Hum Hypertens. 2017. PMID: 29022889 No abstract available.
GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.
Al Seraihi AF, Rio-Machin A, Tawana K, Bödör C, Wang J, Nagano A, Heward JA, Iqbal S, Best S, Lea N, McLornan D, Kozyra EJ, Wlodarski MW, Niemeyer CM, Scott H, Hahn C, Ellison A, Tummala H, Cardoso SR, Vulliamy T, Dokal I, Butler T, Smith M, Cavenagh J, Fitzgibbon J. Al Seraihi AF, et al. Leukemia. 2018 Nov;32(11):2502-2507. doi: 10.1038/s41375-018-0134-9. Epub 2018 Apr 19. Leukemia. 2018. PMID: 29749400 Free PMC article. No abstract available.
290 results