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A selective inhibitor of ceramide synthase 1 reveals a novel role in fat metabolism
Turner, N.; Lim, X. Y.; Toop, H. D.; Osborne, B.; Brandon, A. E.; Taylor, E. N.; Fiveash, C. E.; Govindaraju, H.; Teo, J. D.; McEwen, H. P.; Couttas, T. A.; Butler, S. M.; Das, A.; Kowalski, G. M.; Bruce, C. R.; Hoehn, K. L.; Fath, T.; Schmitz-Peiffer, C.; Cooney, G. J.; Montgomery, M. K.; Morris, J. C.; Don, A. S.
Nature Communications 9(1):3165, 2018 10.1038/s41467-018-05613-7
B-cell receptor reconstruction from single-cell RNA-seq with VDJPuzzle
Rizzetto, S.; Koppstein, D. N. P.; Samir, J.; Singh, M.; Reed, J. H.; Cai, C. H.; Lloyd, A. R.; Eltahla, A. A.; Goodnow, C. C.; Luciani, F.
Bioinformatics 34(16):2846-2847, 2018 10.1093/bioinformatics/bty203
Association Between Alendronate and All-Cause Mortality and Cardiovascular Mortality Among Hip Fracture: An Alternative Explanation
Tran, T. S.; Nguyen, T. V.
JOURNAL OF BONE AND MINERAL RESEARCH 2018 10.1002/jbmr.3570
Lipid storage myopathies: Current treatments and future directions
Vasiljevski, E. R.; Summers, M. A.; Little, D. G.; Schindeler, A.
PROGRESS IN LIPID RESEARCH 72:1-17, 2018 10.1016/j.plipres.2018.08.001
Realizing the significance of noncoding functionality in clinical genomics
Gloss, B. S.; Dinger, M. E.
EXPERIMENTAL AND MOLECULAR MEDICINE 50(8):97, 2018 10.1038/s12276-018-0087-0
Synthetic microbe communities provide internal reference standards for metagenome sequencing and analysis
Hardwick, S. A.; Chen, W. Y.; Wong, T.; Kanakamedala, B. S.; Deveson, I. W.; Ongley, S. E.; Santini, N. S.; Marcellin, E.; Smith, M. A.; Nielsen, L. K.; Lovelock, C. E.; Neilan, B. A.; Mercer, T. R.
Nature Communications 9(1):3096, 2018 10.1038/s41467-018-05555-0
Germline-activating mutations in PIK3CD compromise B cell development and function
Avery, D. T.; Kane, A.; Nguyen, T.; Lau, A.; Nguyen, A.; Lenthall, H.; Payne, K.; Shi, W.; Brigden, H.; French, E.; Bier, J.; Hermes, J. R.; Zahra, D.; Sewell, W. A.; Butt, D.; Elliott, M.; Boztug, K.; Meyts, I.; Choo, S.; Hsu, P.; Wong, M.; Berglund, L. J.; Gray, P.; O'Sullivan, M.; Cole, T.; Holland, S. M.; Ma, C. S.; Burkhart, C.; Corcoran, L. M.; Phan, T. G.; Brink, R.; Uzel, G.; Deenick, E. K.; Tangye, S. G.
JOURNAL OF EXPERIMENTAL MEDICINE 215(8):2073-2095, 2018 10.1084/jem.20180010
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia
Kang, C.; Liang, C.; Ahmad, K. E.; Gu, Y.; Siow, S. F.; Colebatch, J. G.; Whyte, S.; Ng, K.; Cremer, P. D.; Corbett, A. J.; Davis, R. L.; Roscioli, T.; Cowley, M. J.; Park, J. S.; Sue, C. M.; Kumar, K. R.
CEREBELLUM 2018 10.1007/s12311-018-0969-7
Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing
Mattick, J. S.; Dinger, M.; Schonrock, N.; Cowley, M.
MEDICAL JOURNAL OF AUSTRALIA 209(5):197-199, 2018 10.5694/mja17.01176
Imaging Prostate Cancer With Prostate-Specific Membrane Antigen PET/CT and PET/MRI: Current and Future Applications
Hope, T. A.; Afshar-Oromieh, A.; Eiber, M.; Emmett, L.; Fendler, W. P.; Lawhn-Heath, C.; Rowe, S. P.
AMERICAN JOURNAL OF ROENTGENOLOGY 211(2):286-294, 2018 10.2214/ajr.18.19957
Response rates to second-line platinum-based therapy in ovarian cancer patients challenge the clinical definition of platinum resistance
Lindemann, K.; Gao, B.; Mapagu, C.; Fereday, S.; Emmanuel, C.; Alsop, K.; Traficante, N.; Harnett, P. R.; Bowtell, D. D. L.; deFazio, A.
GYNECOLOGIC ONCOLOGY 150(2):239-246, 2018 10.1016/j.ygyno.2018.05.020
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma
MacGregor, S.; Ong, J. S.; An, J.; Han, X.; Zhou, T.; Siggs, O. M.; Law, M. H.; Souzeau, E.; Sharma, S.; Lynn, D. J.; Beesley, J.; Sheldrick, B.; Mills, R. A.; Landers, J.; Ruddle, J. B.; Graham, S. L.; Healey, P. R.; White, A. J. R.; Casson, R. J.; Best, S.; Grigg, J. R.; Goldberg, I.; Powell, J. E.; Whiteman, D. C.; Radford-Smith, G. L.; Martin, N. G.; Montgomery, G. W.; Burdon, K. P.; Mackey, D. A.; Gharahkhani, P.; Craig, J. E.; Hewitt, A. W.
NATURE GENETICS 50(8):1067-1071, 2018 10.1038/s41588-018-0176-y
Analyses of mRNA structure dynamics identify embryonic gene regulatory programs
Beaudoin, J. D.; Novoa, E. M.; Vejnar, C. E.; Yartseva, V.; Takacs, C. M.; Kellis, M.; Giraldez, A. J.
NAT STRUCT MOL BIOL 25(8):677-686, 2018 10.1038/s41594-018-0091-z
Australians' views on personal genomic testing: focus group findings from the Genioz study
Metcalfe, S. A.; Hickerton, C.; Savard, J.; Terrill, B.; Turbitt, E.; Gaff, C.; Gray, K.; Middleton, A.; Wilson, B.; Newson, A. J.
EUROPEAN JOURNAL OF HUMAN GENETICS 2018 10.1038/s41431-018-0151-1
Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study
Yang, X.; Leslie, G.; Gentry-Maharaj, A.; Ryan, A.; Intermaggio, M.; Lee, A.; Kalsi, J. K.; Tyrer, J.; Gaba, F.; Manchanda, R.; Pharoah, P. D. P.; Gayther, S. A.; Ramus, S. J.; Jacobs, I.; Menon, U.; Antoniou, A. C.
JOURNAL OF MEDICAL GENETICS 55(8):546-554, 2018 10.1136/jmedgenet-2018-105313