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Page 1
Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion.
Venugopal P, Arts P, Fox LC, Simons A, Hiwase DK, Bardy PG, Narcis A, Ross DM, van Vulpen LFD, Buijs A, Bolton KL, Getta B, Furlong E, Carter T A/Prof, Krapels I, Hoeks MPA, Al Kindy A, Al Kindy F, de Munnik S, Evans P, Frank MSB, Bournazos A, Cooper ST, Ha TT, Jackson MR, Arriola-Martinez LA, Phillips K, Brennan Y, Bakshi M, Ambler K, Gao S, Kassahn KS, Kenyon R, Hung K MBBS FRACP FRCPA, Babic M, McGovern A, Rawlings L, Valkulin C, Dejong L, Fathi R, McRae S, Myles N, Ladon D, Jongmans MC, Kuiper RP, Poplawski N, Barbaro PM, Blombery P, Brown AL, Hahn CN, Scott HS. Venugopal P, et al. Among authors: babic m. Blood Adv. 2024 Apr 25:bloodadvances.2023012331. doi: 10.1182/bloodadvances.2023012331. Online ahead of print. Blood Adv. 2024. PMID: 38662475 No abstract available.
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL, Arts P, Carmichael CL, Babic M, Dobbins J, Chong CE, Schreiber AW, Feng J, Phillips K, Wang PPS, Ha T, Homan CC, King-Smith SL, Rawlings L, Vakulin C, Dubowsky A, Burdett J, Moore S, McKavanagh G, Henry D, Wells A, Mercorella B, Nicola M, Suttle J, Wilkins E, Li XC, Michaud J, Brautigan P, Cannon P, Altree M, Jaensch L, Fine M, Butcher C, D'Andrea RJ, Lewis ID, Hiwase DK, Papaemmanuil E, Horwitz MS, Natsoulis G, Rienhoff HY, Patton N, Mapp S, Susman R, Morgan S, Cooney J, Currie M, Popat U, Bochtler T, Izraeli S, Bradstock K, Godley LA, Krämer A, Fröhling S, Wei AH, Forsyth C, Mar Fan H, Poplawski NK, Hahn CN, Scott HS. Brown AL, et al. Among authors: babic m. Blood Adv. 2020 Mar 24;4(6):1131-1144. doi: 10.1182/bloodadvances.2019000901. Blood Adv. 2020. PMID: 32208489 Free PMC article.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC, Drazer MW, Yu K, Lawrence DM, Feng J, Arriola-Martinez L, Pozsgai MJ, McNeely KE, Ha T, Venugopal P, Arts P, King-Smith SL, Cheah J, Armstrong M, Wang P, Bödör C, Cantor AB, Cazzola M, Degelman E, DiNardo CD, Duployez N, Favier R, Fröhling S, Rio-Machin A, 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, Kim E, Sood R, Hsu AP, Holland SM, Phillips K, Poplawski NK, Babic M, Wei AH, Forsyth C, Mar Fan H, Lewis ID, Cooney J, Susman R, Fox LC, Blombery P, Singhal D, Hiwase D, Phipson B, Schreiber AW, Hahn CN, Scott HS, Liu P, Godley LA, Brown AL; NISC Comparative Sequencing Program. Homan CC, et al. Among authors: babic m. Blood Adv. 2023 Oct 24;7(20):6092-6107. doi: 10.1182/bloodadvances.2023010045. Blood Adv. 2023. PMID: 37406166 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: babic m. 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.
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber AW, Feng J, Babic M, Chong CE, Lee Y, Yong A, Suthers GK, Poplawski N, Altree M, Phillips K, Jaensch L, Fine M, D'Andrea RJ, Lewis ID, Medeiros BC, Pollyea DA, King MC, Walsh T, Keel S, Shimamura A, Godley LA, Hahn CN, Churpek JE, Scott HS. Lewinsohn M, et al. Among authors: babic m. Blood. 2016 Feb 25;127(8):1017-23. doi: 10.1182/blood-2015-10-676098. Epub 2015 Dec 28. Blood. 2016. PMID: 26712909 Free PMC article.
A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.
Cheah JJC, Brown AL, Schreiber AW, Feng J, Babic M, Moore S, Young CC, Fine M, Phillips K, Guandalini M, Wilson P, Poplawski N, Hahn CN, Scott HS. Cheah JJC, et al. Among authors: babic m. Haematologica. 2019 Jul;104(7):e318-e321. doi: 10.3324/haematol.2018.207316. Epub 2019 Mar 28. Haematologica. 2019. PMID: 30923096 Free PMC article. No abstract available.
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Arts P, Garland J, Byrne AB, Hardy TSE, Babic M, Feng J, Wang P, Ha T, King-Smith SL, Schreiber AW, Crawford A, Manton N, Moore L, Barnett CP, Scott HS. Arts P, et al. Among authors: babic m. Am J Med Genet A. 2020 May;182(5):1273-1277. doi: 10.1002/ajmg.a.61541. Epub 2020 Mar 6. Am J Med Genet A. 2020. PMID: 32141698 Free PMC article.
Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.
Ghaoui R, Ha TT, Kerkhof J, McConkey H, Gao S, Babic M, King R, Ravenscroft G, Koszyca B, Otto S, Laing NG, Scott H, Sadikovic B, Kassahn KS. Ghaoui R, et al. Among authors: babic m. Neuromuscul Disord. 2023 Jun;33(6):484-489. doi: 10.1016/j.nmd.2023.04.002. Epub 2023 Apr 4. Neuromuscul Disord. 2023. PMID: 37209493
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: babic m. 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.
276 results