Publications

6444 items matching your search terms.

Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk

Kaur, Rajneesh; Meiser, Bettina; Yanes, Tatiane; Young, Mary-Anne; Barlow-Stewart, Kristine; Roscioli, Tony; Smith, Sian; James, Paul A.

Familial Cancer 18 (2) :147-152, 2019 10.1007/s10689-018-0104-4

Preparing Australia for genomic medicine: data, computing and digital health

Hansen, D. P.; Dinger, M. E.; Hofmann, O.; Thorne, N.; Boughtwood, T. F.

MEDICAL JOURNAL OF AUSTRALIA 210 (Suppl 6) :S30-S32, 2019 10.5694/mja2.50032

Five-year survival outcomes for patients with advanced melanoma treated with pembrolizumab in KEYNOTE-001

Hamid, O.; Robert, C.; Daud, A.; Hodi, F. S.; Hwu, W. J.; Kefford, R.; Wolchok, J. D.; Hersey, P.; Joseph, R.; Weber, J. S.; Dronca, R.; Mitchell, T. C.; Patnaik, A.; Zarour, H. M.; Joshua, A. M.; Zhao, Q.; Jensen, E.; Ahsan, S.; Ibrahim, N.; Ribas, A.

Annals Of Oncology 30 (4) :582-588, 2019 10.1093/annonc/mdz011

High-risk women's risk perception after receiving personalized polygenic breast cancer risk information

Forrest, L. E.; Sawyer, S. D.; Hallowell, N.; James, P. A.; Young, M. A.

Journal of Community Genetics 10 (2) :197-206, 2019 10.1007/s12687-018-0378-0

Managing ocular surface neoplasia without biopsy: The end of pathology as we know it?

Conway, M. R.; Cherepanoff, S.; Josua, A. M.

CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY 47 (2) :163-164, 2019 10.1111/ceo.13475

Research Weaving: Visualizing the Future of Research Synthesis

Nakagawa, S.; Samarasinghe, G.; Haddaway, N. R.; Westgate, M. J.; O'Dea, R. E.; Noble, D. W. A.; Lagisz, M.

TRENDS IN ECOLOGY & EVOLUTION 34 (3) :224-238, 2019 10.1016/j.tree.2018.11.007

Diagnosis of fusion genes using targeted RNA sequencing

Heyer, E. E.; Deveson, I. W.; Wooi, D.; Selinger, C. I.; Lyons, R. J.; Hayes, V. M.; O'Toole, S. A.; Ballinger, M. L.; Gill, D.; Thomas, D. M.; Mercer, T. R.; Blackburn, J.

Nature Communications 10 (1) :1388, 2019 10.1038/s41467-019-09374-9

Single-cell expression profiling reveals dynamic flux of cardiac stromal, vascular and immune cells in health and injury

Farbehi, N.; Patrick, R.; Dorison, A.; Xaymardan, M.; Janbandhu, V.; Wystub-Lis, K.; Ho, J. W.; Nordon, R. E.; Harvey, R. P.

eLife 8 :pii: 43882, 2019 10.7554/eLife.43882

Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD-the Goldilocks' Effect

Tangye, S. G.; Bier, J.; Lau, A.; Nguyen, T.; Uzel, G.; Deenick, E. K.

JOURNAL OF CLINICAL IMMUNOLOGY 39 (2) :148-158, 2019 10.1007/s10875-019-00612-9

Chiral DNA sequences as commutable controls for clinical genomics

Deveson, I. W.; Madala, B. S.; Blackburn, J.; Barker, C.; Wong, T.; Barton, K. M.; Smith, M. A.; Watkins, D. N.; Mercer, T. R.

Nature Communications 10 (1) :1342, 2019 10.1038/s41467-019-09272-0

Chiral DNA sequences as commutable controls for clinical genomics

Deveson, Ira W.; Madala, Bindu Swapna; Blackburn, James; Barker, Chris; Wong, Ted; Barton, Kirston M.; Smith, Martin A.; Watkins, D. Neil; Mercer, Tim R.

Nature Communications 10 (1) :1342, 2019 10.1038/s41467-019-09272-0

The underacknowledged PPA-ALS: A unique clinicopathologic subtype with strong heritability

Tan, R. H.; Guennewig, B.; Dobson-Stone, C.; Kwok, J. B. J.; Kril, J. J.; Kiernan, M. C.; Hodges, J. R.; Piguet, O.; Halliday, G. M.

NEUROLOGY 92 (12) :e1354-e1366, 2019 10.1212/WNL.0000000000007146

Inferred Allelic Variants of Immunoglobulin Receptor Genes: A System for Their Evaluation, Documentation, and Naming

Ohlin, M.; Scheepers, C.; Corcoran, M.; Lees, W. D.; Busse, C. E.; Bagnara, D.; Thornqvist, L.; Burckert, J. P.; Jackson, K. J. L.; Ralph, D.; Schramm, C. A.; Marthandan, N.; Breden, F.; Scott, J.; Matsen Iv, F. A.; Greiff, V.; Yaari, G.; Kleinstein, S. H.; Christley, S.; Sherkow, J. S.; Kossida, S.; Lefranc, M. P.; van Zelm, M. C.; Watson, C. T.; Collins, A. M.

Frontiers in Immunology 10 :435, 2019 10.3389/fimmu.2019.00435

Efficient Intracellular Delivery of CRISPR-Cas Ribonucleoproteins through Receptor Mediated Endocytosis

Rouet, R.; Christ, D.

ACS Chemical Biology 14 (3) :554-561, 2019 10.1021/acschembio.9b00116

Featherweight long read alignment using partitioned reference indexes

Gamaarachchi, Hasindu; Parameswaran, Sri; Smith, Martin A.

Scientific Reports 9 (1) :4318, 2019 10.1038/s41598-019-40739-8

Excess mortality and cardiovascular disease risk in type 1 diabetes

Snaith, J. R.; Holmes-Walker, D. J.; Girgis, C. M.; Greenfield, J. R.

LANCET 393 (10175) :984-985, 2019 10.1016/S0140-6736(18)33050-2