Showing results 7 to 16 of 16
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| Preview | Issue Date | Title | Author(s) |
| 2011 | Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia | Hahn, C.; Chong, C.; Carmichael, C.; Wilkins, E.; Brautigan, P.; Li, X.; Babic, M.; Lin, M.; Carmagnac, A.; Lee, Y.; Kok, C.; Gagliardi, L.; Friend, K.; Ekert, P.; Butcher, C.; Brown, A.; Lewis, I.; To, L.; Timms, A.; Storek, J.; et al. |
| 2016 | In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts | Ling, K.; Brautigan, P.; Moore, S.; Fraser, R.; Leong, M.; Leong, J.; Zainal Abidin, S.; Lee, H.; Cheah, P.; Raison, J.; Babic, M.; Lee, Y.; Daish, T.; Mattiske, D.; Mann, J.; Adelson, D.; Thomas, P.; Hahn, C.; Scott, H. |
| 2012 | 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, G.; Liu, Y.; Rosenfeld, J.; Wildin, R.; Cuellar-Rodriguez, J.; Hsu, A.; Dyack, S.; Fernandez, C.; Chong, C.; Babic, M.; Bardy, P.; Shimamura, A.; Zhang, M.; Walsh, T.; Holland, S.; Hickstein, D.; Horwitz, M.; Hahn, C.; Scott, H.; et al. |
| 2016 | Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies | Lewinsohn, M.; Brown, A.L.; Weinel, L.M.; Phung, C.; Rafidi, G.; Lee, M.K.; Schreiber, A.W.; Feng, J.; Babic, M.; Chong, C.E.; Lee, Y.; Yong, A.; Suthers, G.K.; Poplawski, N.; Altree, M.; Phillips, K.; Jaensch, L.; Fine, M.; D'Andrea, R.J.; Lewis, I.D.; et al. |
| 2020 | Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome | Arts, P.; Garland, J.; Byrne, A.B.; Hardy, T.S.E.; Babic, M.; Feng, J.; Wang, P.; Ha, T.; King-Smith, S.L.; Schreiber, A.W.; Crawford, A.; Manton, N.; Moore, L.; Barnett, C.P.; Scott, H.S. |
| 2020 | Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis | Byrne, A.B.; Mizumoto, S.; Arts, P.; Yap, P.; Feng, J.; Schreiber, A.W.; Babic, M.; King-Smith, S.L.; Barnett, C.P.; Moore, L.; Sugahara, K.; Mutlu-Albayrak, H.; Nishimura, G.; Liebelt, J.E.; Yamada, S.; Savarirayan, R.; Scott, H.S. |
| 2015 | Revealing missing human protein isoforms based on ab initio prediction, RNA-seq and proteomics | Hu, Z.; Scott, H.; Qin, G.; Zheng, G.; Chu, X.; Xie, L.; Adelson, D.; Oftedal, B.; Venugopal, P.; Babic, M.; Hahn, C.; Zhang, B.; Wang, X.; Li, N.; Wei, C. |
| 2020 | RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML | Brown, A.L.; Arts, P.; Carmichael, C.L.; Babic, M.; Dobbins, J.; Chong, C.-E.; Schreiber, A.W.; Feng, J.; Phillips, K.; Wang, P.P.S.; Ha, T.; Homan, C.C.; King-Smith, S.L.; Rawlings, L.; Vakulin, C.; Dubowsky, A.; Burdett, J.; Moore, S.; McKavanagh, G.; Henry, D.; et al. |
| 2021 | Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer | Singhal, D.; Hahn, C.N.; Feurstein, S.; Wee, L.Y.A.; Moma, L.; Kutyna, M.M.; Chhetri, R.; Eshraghi, L.; Schreiber, A.W.; Feng, J.; Wang, P.P.-S.; Babic, M.; Parker, W.T.; Gao, S.; Moore, S.; Das, S.; Thomas, D.; Pattnaik, S.; Brown, A.L.; D'Andrea, R.J.; et al. |
| 2020 | Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss | Venugopal, P.; Gagliardi, L.; Forsyth, C.; Feng, J.; Phillips, K.; Babic, M.; Poplawski, N.K.; Rienhoff, H.Y.; Schreiber, A.W.; Hahn, C.N.; Brown, A.L.; Scott, H.S. |
