J. Rubio

发表

Identifying nineteenth century genealogical links from genotypes

T. Speed, M. Bahlo, J. Stankovich, 2005, Human Genetics.

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Simon C. Potter, Joseph T. Glessner, M. Pirinen, 2011, Nature.

Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

Simon C. Potter, Till F. M. Andlauer, M. Pirinen, 2019, Science.

An 18-kDa Translocator Protein (TSPO) polymorphism explains differences in binding affinity of the PET radioligand PBR28

Roger N Gunn, Paul M Matthews, Vincent E Mooser, 2011, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis.

Terence Dwyer, Bruce Taylor, Terence P Speed, 2002, American journal of human genetics.

The mutational landscape of single neurons and oligodendrocytes reveals evidence of inflammation-associated DNA damage in multiple sclerosis

A. Motyer, S. Leslie, T. Kilpatrick, 2022, bioRxiv.

Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians

T. Speed, T. Kilpatrick, H. Butzkueven, 2008, Genes and Immunity.

Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis

T. Speed, T. Kilpatrick, H. Butzkueven, 2004, Human Genetics.

Estimation of the Antirelapse Efficacy of Tafenoquine, Using Plasmodium vivax Genotyping

J. Rubio, M. Lacerda, A. Llanos-Cuentas, 2015, The Journal of infectious diseases.

Saliva-Derived DNA Performs Well in Large-Scale, High-Density Single-Nucleotide Polymorphism Microarray Studies

M. Brown, M. Bahlo, S. Browning, 2010, Cancer Epidemiology, Biomarkers & Prevention.

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Adrian Danek, Nicholas W. Wood, Andrea H. Németh, 2001, Nature Genetics.

CD127 immunophenotyping suggests altered CD4+ T cell regulation in primary progressive multiple sclerosis.

G. Stewart, D. Booth, T. Kilpatrick, 2008, Journal of autoimmunity.

Genomic Organization of the Human Gα14 and Gαq Genes and Mutation Analysis in Chorea–Acanthocytosis (CHAC)

A. Monaco, J. Rubio, C. Dobson-Stone, 1999 .

Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease

F. Mastaglia, A. Venn, P. Silburn, 2007, Movement disorders : official journal of the Movement Disorder Society.

Gene expression and genotyping studies implicate the interleukin 7 receptor in the pathogenesis of primary progressive multiple sclerosis

D. Booth, J. Pollard, J. Rubio, 2005, Journal of Molecular Medicine.

Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients

T. Speed, E. Mignot, T. Kilpatrick, 2007, Immunogenetics.

A Polymorphism in the HLA-DPB1 Gene Is Associated with Susceptibility to Multiple Sclerosis

Sharon R. Browning, Patrick Danoy, Melanie Bahlo, 2010, PloS one.

SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians.

T. Speed, G. Stewart, D. Booth, 2007, Tissue antigens.

HLA-DRB1 associations with disease susceptibility and clinical course in Australians with multiple sclerosis.

T. Kilpatrick, H. Butzkueven, N. Tubridy, 2009, Tissue antigens.

Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients

M. Brown, T. Kilpatrick, H. Butzkueven, 2010, PloS one.

Variants of ST8SIA1 Are Associated with Risk of Developing Multiple Sclerosis

M. Devoto, J. Rubio, E. Vitale, 2008, PloS one.

Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data

T. Speed, M. Bahlo, J. Stankovich, 2006, Human Genetics.

Exome array analysis suggests an increased variant burden in families with schizophrenia

John Blangero, Assen Jablensky, J. Blangero, 2017, Schizophrenia Research.

A genome-wide association study in progressive multiple sclerosis

G. Stewart, J. Wojcik, H. Harbo, 2012, Multiple sclerosis.

Tafenoquine treatment of Plasmodium vivax malaria: suggestive evidence that CYP2D6 reduced metabolism is not associated with relapse in the Phase 2b DETECTIVE trial

J. Rubio, S. Krudsood, A. Llanos-Cuentas, 2016, Malaria Journal.

Interleukin-2 receptor-α proximal promoter hypomethylation is associated with multiple sclerosis

A. Fox, T. Kilpatrick, H. Butzkueven, 2017, Genes and Immunity.

Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus

T. Kilpatrick, H. Butzkueven, J. Stankovich, 2009, Journal of Neuroimmunology.

Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females

D. Loesch, E. Storey, J. Rubio, 2018, Movement disorders : official journal of the Movement Disorder Society.

McLeod neuroacanthocytosis: Genotype and phenotype

A. Monaco, A. Danek, M. Oechsner, 2001, Annals of neurology.

The chorea of McLeod syndrome

A. Monaco, A. Danek, M. Oechsner, 2001, Movement disorders : official journal of the Movement Disorder Society.

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.

M Farrall, A Danek, A. Monaco, 1997, American journal of human genetics.

McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene

A. Monaco, A. Federico, J. Rubio, 2000, Movement disorders : official journal of the Movement Disorder Society.

Haplotypes of the interleukin 7 receptor alpha gene are correlated with altered expression in whole blood cells in multiple sclerosis

D. Booth, T. Kilpatrick, J. Rubio, 2008, Genes and Immunity.

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

Pablo Moscato, Rodney J. Scott, Brian L. Browning, 2009, Nature Genetics.

Splicing, cis genetic variation and disease.

J. Rubio, B. Oldfield, C. Jensen, 2009, Biochemical Society transactions.

An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians

G. Stewart, J. Rubio, R. Heard, 2006, BMC Medical Genetics.

Transcriptomic effects of rs4845604, an IBD and allergy-associated RORC variant, in stimulated ex vivo CD4+ T cells

R. McIntyre, N. Galwey, S. Spain, 2021, PloS one.

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe

J. Novembre, M. Nelson, M. Ehm, 2012, Human Mutation.

SIRT1 Activates MAO-A in the Brain to Mediate Anxiety and Exploratory Drive

S. Bergmann, L. Guarente, M. Preisig, 2011, Cell.

Histamine Receptor 3 negatively regulates oligodendrocyte differentiation and remyelination

J. Rubio, D. Krull, Ailian Liu, 2017, PloS one.

Genetic deficiency of plasma lipoprotein-associated phospholipase A2 (PLA2G7 V297F null mutation) and risk of Alzheimer's disease in Japan.

V. Mooser, M. Irizarry, J. Rubio, 2010, Journal of Alzheimer's disease : JAD.

Effects of enzyme inducers efavirenz and tipranavir/ritonavir on the pharmacokinetics of the HIV integrase inhibitor dolutegravir

S. Piscitelli, J. Rubio, D. Wilfret, 2014, European Journal of Clinical Pharmacology.

Leptin’s metabolic and immune functions can be uncoupled at the ligand/receptor interaction level

J. Tavernier, K. Venken, H. Chen, 2014, Cellular and Molecular Life Sciences.

Evaluation of the effect of UGT1A1 polymorphisms on dolutegravir pharmacokinetics.

S. Piscitelli, J. Rubio, A. Yeo, 2014, Pharmacogenomics.

On the utility of data from the International HapMap Project for Australian association studies

Terence P. Speed, Melanie Bahlo, Helmut Butzkueven, 2006, Human Genetics.

Saliva-derived DNA performs well in large-scale, high-density SNP microarray studies

Marilyn, Merriman, Booth, 2017 .

Leptin’s metabolic and immune functions can be uncoupled at the ligand/receptor interaction level

J. Tavernier, K. Venken, J. Rubio, 2014, Cellular and Molecular Life Sciences.

Tafenoquine treatment of Plasmodium vivax malaria: suggestive evidence that CYP2D6 reduced metabolism is not associated with relapse in the Phase 2b DETECTIVE trial

J. Rubio, S. Krudsood, A. Llanos-Cuentas, 2016, Malaria Journal.

Locus for severity implicates CNS resilience in progression of multiple sclerosis

Till F. M. Andlauer, K. Stefánsson, M. Pericak-Vance, 2023, Nature.

The var genes of Plasmodium falciparum are located in the subtelomeric region of most chromosomes.

A. Cowman, J. Rubio, Jenn K Thompson, 1996, The EMBO journal.

Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy

T. Kilpatrick, H. Butzkueven, M. Bahlo, 2009, Neurology.

Common variation in the MOG gene influences transcript splicing in humans

H. Butzkueven, J. Stankovich, J. Rubio, 2010, Journal of Neuroimmunology.

A DNA resequencing array for genes involved in Parkinson's disease.

T P Speed, M. Horne, J. Rubio, 2012, Parkinsonism & related disorders.

A genomewide association study of smoking relapse in four European population-based samples

C. Gieger, W. McArdle, S. Ring, 2013, Psychiatric genetics.