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NMNAT1 variants cause cone and cone-rod dystrophy
Nash, B. M.; Symes, R.; Goel, H.; Dinger, M. E.; Bennetts, B.; Grigg, J. R.; Jamieson, R. V.
EUROPEAN JOURNAL OF HUMAN GENETICS 2018 10.1038/s41431-017-0029-7
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
Gennarino, V. A.; Palmer, E. E.; McDonell, L. M.; Wang, L.; Adamski, C. J.; Koire, A.; See, L.; Chen, C. A.; Schaaf, C. P.; Rosenfeld, J. A.; Panzer, J. A.; Moog, U.; Hao, S.; Bye, A.; Kirk, E. P.; Stankiewicz, P.; Breman, A. M.; McBride, A.; Kandula, T.; Dubbs, H. A.; Macintosh, R.; Cardamone, M.; Zhu, Y.; Ying, K.; Dias, K. R.; Cho, M. T.; Henderson, L. B.; Baskin, B.; Morris, P.; Tao, J.; Cowley, M. J.; Dinger, M. E.; Roscioli, T.; Caluseriu, O.; Suchowersky, O.; Sachdev, R. K.; Lichtarge, O.; Tang, J.; Boycott, K. M.; Holder, J. L., Jr.; Zoghbi, H. Y.
CELL 172(5):924-936 e11, 2018 10.1016/j.cell.2018.02.006
Novel aberrations uncovered in Barrett's esophagus and esophageal adenocarcinoma using whole transcriptome sequencing
Maag, J. L. V.; Fisher, O. M.; Levert-Mignon, A.; Kaczorowski, D. C.; Thomas, M. L.; Hussey, D. J.; Watson, D. I.; Wettstein, A.; Bobryshev, Y. V.; Edwards, M.; Dinger, M. E.; Lord, R. V.
MOLECULAR CANCER RESEARCH 15(11):1558-1569, 2017 10.1158/1541-7786.MCR-17-0332
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy
Gururaj, S.; Palmer, E. E.; Sheehan, G. D.; Kandula, T.; Macintosh, R.; Ying, K.; Morris, P.; Tao, J.; Dias, K. R.; Zhu, Y.; Dinger, M. E.; Cowley, M. J.; Kirk, E. P.; Roscioli, T.; Sachdev, R.; Duffey, M. E.; Bye, A.; Bhattacharjee, A.
Cell Reports 21(4):926-933, 2017 10.1016/j.celrep.2017.09.088
RNA-seq reveals more consistent reference genes for gene expression studies in human non-melanoma skin cancers
Hoang, V. L. T.; Tom, L. N.; Quek, X. C.; Tan, J. M.; Payne, E. J.; Lin, L. L.; Sinnya, S.; Raphael, A. P.; Lambie, D.; Frazer, I. H.; Dinger, M. E.; Soyer, H. P.; Prow, T. W.
PeerJ 5:e3631, 2017 10.7717/peerj.3631
Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage
Betts, J. A.; Moradi Marjaneh, M.; Al-Ejeh, F.; Lim, Y. C.; Shi, W.; Sivakumaran, H.; Tropee, R.; Patch, A. M.; Clark, M. B.; Bartonicek, N.; Wiegmans, A. P.; Hillman, K. M.; Kaufmann, S.; Bain, A. L.; Gloss, B. S.; Crawford, J.; Kazakoff, S.; Wani, S.; Wen, S. W.; Day, B.; Moller, A.; Cloonan, N.; Pearson, J.; Brown, M. A.; Mercer, T. R.; Waddell, N.; Khanna, K. K.; Dray, E.; Dinger, M. E.; Edwards, S. L.; French, J. D.
AMERICAN JOURNAL OF HUMAN GENETICS 101(2):255-266, 2017 10.1016/j.ajhg.2017.07.007
High resolution temporal transcriptomics of mouse embryoid body development reveals complex expression dynamics of coding and noncoding loci
Gloss, B. S.; Signal, B.; Cheetham, S. W.; Gruhl, F.; Kaczorowski, D. C.; Perkins, A. C.; Dinger, M. E.
Scientific Reports 7(1):6731, 2017 10.1038/s41598-017-06110-5
Benchmarking of RNA-sequencing analysis workflows using whole-transcriptome RT-qPCR expression data
Everaert, C.; Luypaert, M.; Maag, J. L. V.; Cheng, Q. X.; Dinger, M. E.; Hellemans, J.; Mestdagh, P.
Scientific Reports 7(1):1559, 2017 10.1038/s41598-017-01617-3
Initiating an undiagnosed diseases program in the Western Australian public health system
Baynam, G.; Broley, S.; Bauskis, A.; Pachter, N.; McKenzie, F.; Townshend, S.; Slee, J.; Kiraly-Borri, C.; Vasudevan, A.; Hawkins, A.; Schofield, L.; Helmholz, P.; Palmer, R.; Kung, S.; Walker, C. E.; Molster, C.; Lewis, B.; Mina, K.; Beilby, J.; Pathak, G.; Poulton, C.; Groza, T.; Zankl, A.; Roscioli, T.; Dinger, M. E.; Mattick, J. S.; Gahl, W.; Groft, S.; Tifft, C.; Taruscio, D.; Lasko, P.; Kosaki, K.; Wilhelm, H.; Melegh, B.; Carapetis, J.; Jana, S.; Chaney, G.; Johns, A.; Owen, P. W.; Daly, F.; Weeramanthri, T.; Dawkins, H.; Goldblatt, J.
Orphanet Journal of Rare Diseases 12(1):83, 2017 10.1186/s13023-017-0619-z
The regulatory role of long noncoding RNAs in cancer
Tang, Y.; Cheung, B. B.; Atmadibrata, B.; Marshall, G. M.; Dinger, M. E.; Liu, P. Y.; Liu, T.
CANCER LETTERS 391:12-19, 2017 10.1016/j.canlet.2017.01.010
Cancer-associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression
Zeraati, M.; Moye, A. L.; Wong, J. W.; Perera, D.; Cowley, M. J.; Christ, D. U.; Bryan, T. M.; Dinger, M. E.
Scientific Reports 7(1):708, 2017 10.1038/s41598-017-00739-y
Widespread promoter methylation of synaptic plasticity genes in long-term potentiation in the adult brain in vivo
Maag, J. L.; Kaczorowski, D. C.; Panja, D.; Peters, T. J.; Bramham, C. R.; Wibrand, K.; Dinger, M. E.
BMC GENOMICS 18(1):250, 2017 10.1186/s12864-017-3621-x
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy
Ewans, L. J.; Field, M.; Zhu, Y.; Turner, G.; Leffler, M.; Dinger, M. E.; Cowley, M. J.; Buckley, M. F.; Scheffer, I. E.; Jackson, M. R.; Roscioli, T.; Shoubridge, C.
EUROPEAN JOURNAL OF HUMAN GENETICS 25(6):763-767, 2017 10.1038/ejhg.2017.29
OpenAccess publication Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing
Clark, M. B.; Mercer, T. R.; Bussotti, G.; Leonardi, T.; Haynes, K. R.; Crawford, J.; Brunck, M. E.; Cao, K. A.; Thomas, G. P.; Chen, W. Y.; Taft, R. J.; Nielsen, L. K.; Enright, A. J.; Mattick, J. S.; Dinger, M. E.;
NATURE METHODS 12(4):339-42, 2015