| 2025 |
Frank, M. S. B., Bennett, M. K., Ha, T. T., Moore, L., Arts, P., Byrne, A. B., . . . Scott, H. S. (2025). Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. Human Genomics, 19(1, article no. 132), 1-13. DOI |
| 2024 |
Zerella, J. R., Homan, C. C., Arts, P., Lin, X., Spinelli, S. J., Venugopal, P., . . . Hahn, C. N. (2024). Germline ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood, 144(17), 1765-1780. DOI Scopus9 WoS8 Europe PMC6 |
| 2022 |
Byrne, A. B., Brouillard, P., Sutton, D. L., Kazenwadel, J., Montazaribarforoushi, S., Secker, G. A., . . . Harvey, N. L. (2022). Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Science Translational Medicine, 14(634), eabm4869-1-eabm4869-15. DOI Scopus38 WoS29 Europe PMC31 |
| 2020 |
Brown, A. L., Arts, P., Carmichael, C. L., Babic, M., Dobbins, J., Chong, C. -E., . . . Scott, H. S. (2020). RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. Blood Advances, 4(6), 1131-1144. DOI Scopus131 WoS117 Europe PMC106 |
| 2018 |
Chong, C. -E., Venugopal, P., Stokes, P., Lee, Y., Brautigan, P., Yeung, D., . . . Scott, H. (2018). Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes. Leukemia, 32(1), 194-202. DOI Scopus56 WoS54 Europe PMC52 |
| 2017 |
De Sousa, S. M. C., Meyer, E. J., Rankin, W., Brautigan, P. J., Burt, M. G., & Torpy, D. J. (2017). Vasculogenic hyperprolactinemia: severe prolactin excess in association with internal carotid artery aneurysms. Pituitary, 20(6), 676-682. DOI Scopus5 WoS4 Europe PMC4 |
| 2016 |
Ling, K., Brautigan, P., Moore, S., Fraser, R., Cheah, P., Raison, J., . . . Scott, H. (2016). Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brain. Genomics, 107(2-3), 88-99. DOI Scopus15 WoS12 Europe PMC11 |
| 2016 |
Ling, K., Brautigan, P., Moore, S., Fraser, R., Leong, M., Leong, J., . . . Scott, H. (2016). In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts. Data in Brief, 7, 282-290. DOI Scopus4 WoS3 Europe PMC2 |
| 2015 |
Hahn, C., Brautigan, P., Chong, C., Janssan, A., Venugopal, P., Lee, Y., . . . Scott, H. (2015). Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia. Leukemia, 29(8), 1795-1797. DOI Scopus9 WoS10 Europe PMC11 |
| 2012 |
Gagliardi, L., Ling, K., Kok, C., Carolan, J., Brautigan, P., Kenyon, R., . . . Scott, H. (2012). Genome-wide gene expression profiling identifies overlap with malignant adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia. Endocrine-Related Cancer, 19(3), 19-23. DOI Scopus6 WoS6 Europe PMC5 |
| 2011 |
Hahn, C., Chong, C., Carmichael, C., Wilkins, E., Brautigan, P., Li, X., . . . Scott, H. (2011). Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nature Genetics, 43(10), 1012-1019. DOI Scopus543 WoS481 Europe PMC444 |
| 2011 |
Ling, K., Brautigan, P., Hahn, C., Daish, T., Rayner, J., Cheah, P., . . . Scott, H. (2011). Deep sequencing analysis of the developing mouse brain reveals a novel microRNA. BMC Genomics, 12(1), 1-15. DOI Scopus54 WoS47 Europe PMC48 |
| 2010 |
Coleman, P., Hahn, C., Grimshaw, M., Lu, Y., Li, X., Brautigan, P., . . . Gamble, J. (2010). Stress-induced premature senescence mediated by a novel gene, SENEX, results in an anti-inflammatory phenotype in endothelial cells. Blood, 116(19), 4016-4024. DOI Scopus49 WoS48 Europe PMC49 |
| 2005 |
Hahn, C., Su, Z., Drogemuller, C., Tsykin, A., Waterman, S., Brautigan, P., . . . Gamble, J. (2005). Expression profiling reveals functionally important genes and coordinately regulated signaling pathway genes during in vitro angiogenesis. Physiological Genomics, 22(1), 57-69. DOI Scopus17 WoS15 Europe PMC15 |