Publications

6433 items matching your search terms.

Genetic Testing of Movements Disorders: A Review of Clinical Utility

Yeow, D.; Rudaks, L. I.; Siow, S. F.; Davis, R. L.; Kumar, K. R.

Tremor and Other Hyperkinetic Movements 14 :2, 2024 10.5334/tohm.835

PEPS: Polygenic Epistatic Phenotype Simulation

Reguant, R.; O'Brien, M. J.; Bayat, A.; Hosking, B.; Jain, Y.; Twine, N. A.; Bauer, D. C.

Stud Health Technol Inform 310 :810-814, 2024 10.3233/SHTI231077

A pilot feasibility randomised controlled trial of bone antiresorptive agents on bone turnover markers in critically ill women

Orford, N. R.; Bone, A.; Kotowicz, M. A.; Bailey, M.; Pasco, J. A.; Maiden, M.; Kakho, N.; Cattigan, C.; Nichonghaile, M.; Jones, C.; Hodgson, C.; Nair, P.; Center, J.; Bellomo, R.

Scientific Reports 14 (1) :2071, 2024 10.1038/s41598-024-52607-1

Dopamine Receptor 1 Treatment Promotes Epithelial Repair of Corneal Injury by Inhibiting NOD-Like Receptor Protein 3-Associated Inflammation

Li, L.; Yu, Y.; Zhuang, Z.; Wu, Q.; Lin, S.; Hu, J.

Invest Ophthalmol Vis Sci 65 (1) :49, 2024 10.1167/iovs.65.1.49

Altered function of arcuate leptin receptor expressing neuropeptide Y neurons depending on energy balance

Lee, N. J.; Oraha, J.; Qi, Y.; Enriquez, R. F.; Tasan, R.; Herzog, H.

Molecular Metabolism 76 :101790, 2023 10.1016/j.molmet.2023.101790

Editorial: Decoding checkpoint inhibitor-induced immune-related adverse events, volume II

Burnett, D. L.; Barnet, M. B.; Moxon, A.; Tsang, V.; Samaras, K.

Frontiers in Endocrinology 14 :1317220, 2023 10.3389/fendo.2023.1317220

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Josephs, K. S.; Roberts, A. M.; Theotokis, P.; Walsh, R.; Ostrowski, P. J.; Edwards, M.; Fleming, A.; Thaxton, C.; Roberts, J. D.; Care, M.; Zareba, W.; Adler, A.; Sturm, A. C.; Tadros, R.; Novelli, V.; Owens, E.; Bronicki, L.; Jarinova, O.; Callewaert, B.; Peters, S.; Lumbers, T.; Jordan, E.; Asatryan, B.; Krishnan, N.; Hershberger, R. E.; Chahal, C. A. A.; Landstrom, A. P.; James, C.; McNally, E. M.; Judge, D. P.; van Tintelen, P.; Wilde, A.; Gollob, M.; Ingles, J.; Ware, J. S.

Genome Medicine 15 (1) :86, 2023 10.1186/s13073-023-01246-8

Novel Alzheimer's disease genes and epistasis identified using machine learning GWAS platform

Lundberg, M.; Sng, L. M. F.; Szul, P.; Dunne, R.; Bayat, A.; Burnham, S. C.; Bauer, D. C.; Twine, N. A.

Scientific Reports 13 (1) :17662, 2023 10.1038/s41598-023-44378-y

BRCA-deficient metastatic prostate cancer has an adverse prognosis and distinct genomic phenotype

Fettke, H.; Dai, C.; Kwan, E. M.; Zheng, T.; Du, P.; Ng, N.; Bukczynska, P.; Docanto, M.; Kostos, L.; Foroughi, S.; Brown, S.; Graham, L. K.; Mahon, K.; Horvath, L. G.; Jia, S.; Kohli, M.; Azad, A. A.

EBioMedicine 95 :104738, 2023 10.1016/j.ebiom.2023.104738

An emerging research: the role of hepatocellular carcinoma-derived exosomal circRNAs in the immune microenvironment

Xu, H. Z.; Lin, X. Y.; Xu, Y. X.; Xue, H. B.; Lin, S.; Xu, T. W.

Frontiers in Immunology 14 :1227150, 2023 10.3389/fimmu.2023.1227150

Pharmacological rescue of mitochondrial and neuronal defects in SPG7 hereditary spastic paraplegia patient neurons using high throughput assays

Wali, G.; Li, Y.; Liyanage, E.; Kumar, K. R.; Day, M. L.; Sue, C. M.

Front Neurosci 17 :1231584, 2023 10.3389/fnins.2023.1231584

Phenotypic heterogeneity drives differential disease outcome in a mouse model of triple negative breast cancer

Thankamony, A. P.; Ramkomuth, S.; Ramesh, S. T.; Murali, R.; Chakraborty, P.; Karthikeyan, N.; Varghese, B. A.; Jaikumar, V. S.; Jolly, M. K.; Swarbrick, A.; Nair, R.

Frontiers in Oncology 13 :1230647, 2023 10.3389/fonc.2023.1230647

The Australian Genetic Heart Disease Registry: Protocol for a Data Linkage Study

Butters, A.; Blanch, B.; Kemp-Casey, A.; Do, J.; Yeates, L.; Leslie, F.; Semsarian, C.; Nedkoff, L.; Briffa, T.; Ingles, J.; Sweeting, J.

JMIR Res Protoc 12 :e48636, 2023 10.2196/48636

Novel human pluripotent stem cell-derived hypothalamus organoids demonstrate cellular diversity

Sarrafha, L.; Neavin, D. R.; Parfitt, G. M.; Kruglikov, I. A.; Whitney, K.; Reyes, R.; Coccia, E.; Kareva, T.; Goldman, C.; Tipon, R.; Croft, G.; Crary, J. F.; Powell, J. E.; Blanchard, J.; Ahfeldt, T.

iScience 26 (9) :107525, 2023 10.1016/j.isci.2023.107525

De novo identification of complex traits associated with asthma

Zaied, R. E.; Fadason, T.; O'Sullivan, J. M.

Frontiers in Immunology 14 :1231492, 2023 10.3389/fimmu.2023.1231492

Recent advances microRNAs and metabolic reprogramming in colorectal cancer research

Xiong, B.; Huang, Q.; Zheng, H.; Lin, S.; Xu, J.

Frontiers in Oncology 13 :1165862, 2023 10.3389/fonc.2023.1165862