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The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.
Homan CC, King-Smith SL, Lawrence DM, Arts P, Feng J, Andrews J, Armstrong M, Ha T, Dobbins J, Drazer MW, Yu K, Bödör C, Cantor A, Cazzola M, Degelman E, DiNardo CD, Duployez N, Favier R, Fröhling S, Fitzgibbon J, Klco JM, Krämer A, Kurokawa M, Lee J, Malcovati L, Morgan NV, Natsoulis G, Owen C, Patel KP, Preudhomme C, Raslova H, Rienhoff H, Ripperger T, Schulte R, Tawana K, Velloso E, Yan B, Liu P, Godley LA, Schreiber AW, Hahn CN, Scott HS, Brown AL. Homan CC, et al. Among authors: scott hs. Haematologica. 2021 Nov 1;106(11):3004-3007. doi: 10.3324/haematol.2021.278762. Haematologica. 2021. PMID: 34233450 Free PMC article. No abstract available.
Deep sequencing analysis of the developing mouse brain reveals a novel microRNA.
Ling KH, Brautigan PJ, Hahn CN, Daish T, Rayner JR, Cheah PS, Raison JM, Piltz S, Mann JR, Mattiske DM, Thomas PQ, Adelson DL, Scott HS. Ling KH, et al. Among authors: scott hs. BMC Genomics. 2011 Apr 5;12:176. doi: 10.1186/1471-2164-12-176. BMC Genomics. 2011. PMID: 21466694 Free PMC article.
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS. Hahn CN, et al. Among authors: scott hs. Nat Genet. 2011 Sep 4;43(10):1012-7. doi: 10.1038/ng.913. Nat Genet. 2011. PMID: 21892162 Free PMC article.
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.
Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong CE, Babic M, Bardy PG, Shimamura A, Zhang MY, Walsh T, Holland SM, Hickstein DD, Horwitz MS, Hahn CN, Scott HS, Harvey NL. Kazenwadel J, et al. Among authors: scott hs. Blood. 2012 Feb 2;119(5):1283-91. doi: 10.1182/blood-2011-08-374363. Epub 2011 Dec 6. Blood. 2012. PMID: 22147895 Free PMC article.
A comparative analysis of algorithms for somatic SNV detection in cancer.
Roberts ND, Kortschak RD, Parker WT, Schreiber AW, Branford S, Scott HS, Glonek G, Adelson DL. Roberts ND, et al. Among authors: scott hs. Bioinformatics. 2013 Sep 15;29(18):2223-30. doi: 10.1093/bioinformatics/btt375. Epub 2013 Jul 9. Bioinformatics. 2013. PMID: 23842810 Free PMC article.
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.
Gagliardi L, Schreiber AW, Hahn CN, Feng J, Cranston T, Boon H, Hotu C, Oftedal BE, Cutfield R, Adelson DL, Braund WJ, Gordon RD, Rees DA, Grossman AB, Torpy DJ, Scott HS. Gagliardi L, et al. Among authors: scott hs. J Clin Endocrinol Metab. 2014 Sep;99(9):E1784-92. doi: 10.1210/jc.2014-1265. Epub 2014 Jun 6. J Clin Endocrinol Metab. 2014. PMID: 24905064
291 results