Publications

6434 items matching your search terms.

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

Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer

Leong, T. L.; Gayevskiy, V.; Steinfort, D. P.; De Massy, M. R.; Gonzalez-Rajal, A.; Marini, K. D.; Stone, E.; Chin, V.; Havryk, A.; Plit, M.; Irving, L. B.; Jennings, B. R.; McCloy, R. A.; Jayasekara, W. S. N.; Alamgeer, M.; Boolell, V.; Field, A.; Russell, P. A.; Kumar, B.; Gough, D. J.; Szczepny, A.; Ganju, V.; Rossello, F. J.; Cain, J. E.; Papenfuss, A. T.; Asselin-Labat, M. L.; Cowley, M. J.; Watkins, D. N.

ONCOGENE 38 (10) :1661-1675, 2019 10.1038/s41388-018-0536-1

The Ins and Outs of Chemokine-Mediated Immune Cell Trafficking in Skin Cancer

Yam, A. O.; Chtanova, T.

Frontiers in Immunology 10 :386, 2019 10.3389/fimmu.2019.00386

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Minoche, A. E.; Horvat, C.; Johnson, R.; Gayevskiy, V.; Morton, S. U.; Drew, A. P.; Woo, K.; Statham, A. L.; Lundie, B.; Bagnall, R. D.; Ingles, J.; Semsarian, C.; Seidman, J. G.; Seidman, C. E.; Dinger, M. E.; Cowley, M. J.; Fatkin, D.

GENETICS IN MEDICINE 21 (3) :650-662, 2019 10.1038/s41436-018-0084-7

Macrophage alterations in islets of obese mice linked to beta cell disruption in diabetes

Chan, J. Y.; Lee, K.; Maxwell, E. L.; Liang, C.; Laybutt, D. R.

DIABETOLOGIA 62 (6) :993-999, 2019 10.1007/s00125-019-4844-y

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Palmer, E. E.; Hong, S.; Al Zahrani, F.; Hashem, M. O.; Aleisa, F. A.; Ahmed, H. M. J.; Kandula, T.; Macintosh, R.; Minoche, A. E.; Puttick, C.; Gayevskiy, V.; Drew, A. P.; Cowley, M. J.; Dinger, M.; Rosenfeld, J. A.; Xiao, R.; Cho, M. T.; Yakubu, S. F.; Henderson, L. B.; Guillen Sacoto, M. J.; Begtrup, A.; Hamad, M.; Shinawi, M.; Andrews, M. V.; Jones, M. C.; Lindstrom, K.; Bristol, R. E.; Kayani, S.; Snyder, M.; Villanueva, M. M.; Schteinschnaider, A.; Faivre, L.; Thauvin, C.; Vitobello, A.; Roscioli, T.; Kirk, E. P.; Bye, A.; Merzaban, J.; Jaremko, L.; Jaremko, M.; Sachdev, R. K.; Alkuraya, F. S.; Arold, S. T.

American Journal Of Human Genetics 104 (3) :542-552, 2019 10.1016/j.ajhg.2019.01.013

Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome"

Kirk, E. P.; Barlow-Stewart, K.; Selvanathan, A.; Josephi-Taylor, S.; Worgan, L.; Rajagopalan, S.; Cowley, M. J.; Gayevskiy, V.; Bittles, A.; Burnett, L.; Elakis, G.; Lo, W.; Buckley, M.; Colley, A.; Roscioli, T.

GENETICS IN MEDICINE 21 (3) :608-612, 2019 10.1038/s41436-018-0082-9

An essential role for the Zn(2+) transporter ZIP7 in B cell development

Anzilotti, C.; Swan, D. J.; Boisson, B.; Deobagkar-Lele, M.; Oliveira, C.; Chabosseau, P.; Engelhardt, K. R.; Xu, X.; Chen, R.; Alvarez, L.; Berlinguer-Palmini, R.; Bull, K. R.; Cawthorne, E.; Cribbs, A. P.; Crockford, T. L.; Dang, T. S.; Fearn, A.; Fenech, E. J.; de Jong, S. J.; Lagerholm, B. C.; Ma, C. S.; Sims, D.; van den Berg, B.; Xu, Y.; Cant, A. J.; Kleiner, G.; Leahy, T. R.; de la Morena, M. T.; Puck, J. M.; Shapiro, R. S.; van der Burg, M.; Chapman, J. R.; Christianson, J. C.; Davies, B.; McGrath, J. A.; Przyborski, S.; Santibanez Koref, M.; Tangye, S. G.; Werner, A.; Rutter, G. A.; Padilla-Parra, S.; Casanova, J. L.; Cornall, R. J.; Conley, M. E.; Hambleton, S.

NATURE IMMUNOLOGY 20 (3) :350-361, 2019 10.1038/s41590-018-0295-8

Genetic effects of welding fumes on the progression of neurodegenerative diseases

Rana, H. K.; Akhtar, M. R.; Ahmed, M. B.; Lio, P.; Quinn, J. M. W.; Huq, F.; Moni, M. A.

NEUROTOXICOLOGY 71 :93-101, 2019 10.1016/j.neuro.2018.12.002

Tumor cell dormancy and reactivation in bone: skeletal biology and therapeutic opportunities

Byrne, N.M., Summers, M.A. and McDonald, M.M.

JOURNAL OF BONE AND MINERAL RESEARCH PLUS 3 (3) :e10125, 2019 10.1002/jbm4.10125

Multiple ABCB1 transcriptional fusions in drug resistant high-grade serous ovarian and breast cancer

Christie, E. L.; Pattnaik, S.; Beach, J.; Copeland, A.; Rashoo, N.; Fereday, S.; Hendley, J.; Alsop, K.; Brady, S. L.; Lamb, G.; Pandey, A.; deFazio, A.; Thorne, H.; Bild, A.; Bowtell, D. D. L.

Nature Communications 10 (1) :1295, 2019 10.1038/s41467-019-09312-9