Publications

6429 items matching your search terms.

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

Recommended guidelines for validation, quality control, and reporting of TP53 variants in clinical practice

Leroy, B.; Ballinger, M. L.; Baran-Marszak, F.; Bond, G. L.; Braithwaite, A.; Concin, N.; Donehower, L. A.; El-Deiry, W. S.; Fenaux, P.; Gaidano, G.; Langerod, A.; Hellstrom-Lindberg, E.; Iggo, R.; Lehmann-Che, J.; Mai, P. L.; Malkin, D.; Moll, U. M.; Myers, J. N.; Nichols, K. E.; Pospisilova, S.; Ashton-Prolla, P.; Rossi, D.; Savage, S. A.; Strong, L. C.; Tonin, P. N.; Zeillinger, R.; Zenz, T.; Fraumeni, J. F., Jr.; Taschner, P. E.; Hainaut, P.; Soussi, T.

CANCER RESEARCH 77 (6) :1250-1260, 2017 10.1158/0008-5472.CAN-16-2179

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders

Riley, L. G.; Cowley, M. J.; Gayevskiy, V.; Roscioli, T.; Thorburn, D. R.; Prelog, K.; Bahlo, M.; Sue, C. M.; Balasubramaniam, S.; Christodoulou, J.

JOURNAL OF INHERITED METABOLIC DISEASE 40 (2) :261-269, 2017 10.1007/s10545-016-0010-6

Correlation of ultrasound shear wave elastography with pathological analysis in a xenografic tumour model

Elyas, E.; Papaevangelou, E.; Alles, E. J.; Erler, J. T.; Cox, T. R.; Robinson, S. P.; Bamber, J. C.

Scientific Reports 7 (1) :165, 2017 10.1038/s41598-017-00144-5

Meta-evaluation of meta-analysis: ten appraisal questions for biologists

Nakagawa, S.; Noble, D. W.; Senior, A. M.; Lagisz, M.

BMC Biology 15 (1) :18, 2017 10.1186/s12915-017-0357-7

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

Schofield, D.; Alam, K.; Douglas, L.; Shrestha, R.; MacArthur, D. G.; Davis, M.; Laing, N. G.; Clarke, N. F.; Burns, J.; Cooper, S. T.; North, K. N.; Sandaradura, S. A.; O'Grady, G. L.

NPJ Genomic Medicine 2 2017 10.1038/s41525-017-0006-7

Sensitizing HR-proficient cancers to PARP inhibitors

Lim, E.; Johnson, S. F.; Geyer, M.; Serra, V.; Shapiro, G. I.

MOLECULAR & CELLULAR ONCOLOGY 4 (6) :e1299272, 2017 10.1080/23723556.2017.1299272

Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene

Dicks, E.; Song, H.; Ramus, S. J.; Oudenhove, E. V.; Tyrer, J. P.; Intermaggio, M. P.; Kar, S.; Harrington, P.; Bowtell, D. D.; Group, A. S.; Cicek, M. S.; Cunningham, J. M.; Fridley, B. L.; Alsop, J.; Jimenez-Linan, M.; Piskorz, A.; Goranova, T.; Kent, E.; Siddiqui, N.; Paul, J.; Crawford, R.; Poblete, S.; Lele, S.; Sucheston-Campbell, L.; Moysich, K. B.; Sieh, W.; McGuire, V.; Lester, J.; Odunsi, K.; Whittemore, A. S.; Bogdanova, N.; Durst, M.; Hillemanns, P.; Karlan, B. Y.; Gentry-Maharaj, A.; Menon, U.; Tischkowitz, M.; Levine, D.; Brenton, J. D.; Dork, T.; Goode, E. L.; Gayther, S. A.; Pharoah, D. P. P.

Oncotarget 8 (31) :50930-50940, 2017 10.18632/oncotarget.15871

Exploring biomedical ontology mappings with graph theory methods

Kocbek, S.; Kim, J. D.

PeerJ 5 :e2990, 2017 10.7717/peerj.2990

Whole-genome landscape of pancreatic neuroendocrine tumours

Scarpa, A.; Chang, D. K.; Nones, K.; Corbo, V.; Patch, A. M.; Bailey, P.; Lawlor, R. T.; Johns, A. L.; Miller, D. K.; Mafficini, A.; Rusev, B.; Scardoni, M.; Antonello, D.; Barbi, S.; Sikora, K. O.; Cingarlini, S.; Vicentini, C.; McKay, S.; Quinn, M. C.; Bruxner, T. J.; Christ, A. N.; Harliwong, I.; Idrisoglu, S.; McLean, S.; Nourse, C.; Nourbakhsh, E.; Wilson, P. J.; Anderson, M. J.; Fink, J. L.; Newell, F.; Waddell, N.; Holmes, O.; Kazakoff, S. H.; Leonard, C.; Wood, S.; Xu, Q.; Nagaraj, S. H.; Amato, E.; Dalai, I.; Bersani, S.; Cataldo, I.; Dei Tos, A. P.; Capelli, P.; Davi, M. V.; Landoni, L.; Malpaga, A.; Miotto, M.; Whitehall, V. L.; Leggett, B. A.; Harris, J. L.; Harris, J.; Jones, M. D.; Humphris, J.; Chantrill, L. A.; Chin, V.; Nagrial, A. M.; Pajic, M.; Scarlett, C. J.; Pinho, A.; Rooman, I.; Toon, C.; Wu, J.; Pinese, M.; Cowley, M.; Barbour, A.; Mawson, A.; Humphrey, E. S.; Colvin, E. K.; Chou, A.; Lovell, J. A.; Jamieson, N. B.; Duthie, F.; Gingras, M. C.; Fisher, W. E.; Dagg, R. A.; Lau, L. M.; Lee, M.; Pickett, H. A.; Reddel, R. R.; Samra, J. S.; Kench, J. G.; Merrett, N. D.; Epari, K.; Nguyen, N. Q.; Zeps, N.; Falconi, M.; Simbolo, M.; Butturini, G.; Van Buren, G.; Partelli, S.; Fassan, M.; Australian Pancreatic Cancer Genome, Initiative; Khanna, K. K.; Gill, A. J.; Wheeler, D. A.; Gibbs, R. A.; Musgrove, E. A.; Bassi, C.; Tortora, G.; Pederzoli, P., et al.

NATURE 543 (7643) :65-71, 2017 10.1038/nature21063

Using Routine Hemoglobin A1c Testing to Determine the Glycemic Status in Psychiatric Inpatients

Naidu, P.; Churilov, L.; Kong, A.; Kanaan, R.; Wong, H.; Van Mourik, A.; Yao, A.; Cornish, E.; Hachem, M.; Hart, G. K.; Owen-Jones, E.; Robbins, R.; Lam, Q.; Samaras, K.; Zajac, J. D.; Ekinci, E. I.

Frontiers in Endocrinology 8 :53, 2017 10.3389/fendo.2017.00053

Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.

Tangye, SG.; Pillay, B.; Randall, L.; Avery, DT.; Phan, TG.; Gray, P.; Ziegler, JB.; Smart,JM.; Choo, S.; Peake, J.; Arkwright,PD.; Hambleton, S.; Oswaldo Lugo Reyes, S.; Orange, J.; Freeman, AF.; Uzel, G.; Su, HC.; Goodnow, CG.; Casanova, JL.; Ma, CS.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY 139 :933-949, 2017 10.1016/j.jaci.2016.07.016

IL-1beta delivers a sweet deal

Hjorth, M.; Febbraio, M. A.

NATURE IMMUNOLOGY 18 (3) :247-248, 2017 10.1038/ni.3681

Preoperative alpha-blockade in phaeochromocytoma and paraganglioma: is it always necessary?

Isaacs, M.; Lee, P.

CLINICAL ENDOCRINOLOGY 86 (3) :309-314, 2017 10.1111/cen.13284

IL-21 restricts T follicular regulatory T cell proliferation through Bcl-6 mediated inhibition of responsiveness to IL-2

Jandl, C.; Liu, S. M.; Canete, P. F.; Warren, J.; Hughes, W. E.; Vogelzang, A.; Webster, K.; Craig, M. E.; Uzel, G.; Dent, A.; Stepensky, P.; Keller, B.; Warnatz, K.; Sprent, J.; King, C.;

Nature Communications 8 :14647, 2017 10.1038/ncomms14647

Descending projections from the inferior colliculus to the dorsal cochlear nucleus are excitatory

Milinkeviciute, G.; Muniak, M. A.; Ryugo, D. K.

JOURNAL OF COMPARATIVE NEUROLOGY 525 (4) :773-793, 2017 10.1002/cne.24095