
After completing a Ph.D. at the Walter and Eliza Hall Institute (WEHI) in 1996 on malaria genomics, he researched the genetic basis of human neurological diseases at the Wellcome Trust Centre for Human Genetics in Oxford (UK). He was awarded a Howard Florey Post-doctoral Fellowship (Royal Society, London) in 1997 and was instrumental in the discovery of the gene for chorea acanthocytosis. He returned to WEHI in 1999 as Project Leader in the Genes-CRC.
In 2004, he was awarded an NHMRC Biomedical Career Development Award and in the same year established The Neurogenetics Laboratory at the Howard Florey Institute. From 2007-2009 he led the ANZgene MS Genetics Consortium’s whole genome scan project, which identified CD40 and CYP27B1 as novel susceptibility genes for MS. He is currently Chair of the ANZgene MS Genetics Consortium.
In 2009, he was awarded an ARC Future Fellowship, which he declined in order to take a position in the Genetics Division at GlaxoSmithKline (GSK, UK). At GSK, he led a programme of genetic and pharmacogenomic research supporting drug development across the pipeline, with a particular focus on the neuroscience and infectious diseases therapy areas.
In 2015, he was recruited back to Australia to take up a joint appointment in human genetics at The University of Melbourne (Department of Pharmacology and Therapeutics) and The Florey. Since his return, he has established a research program in single cell genomics and next-generation sequencing, and is seeking to leverage these capabilities to dissect the pathogenesis of neurological diseases such as MS and motor neuron disease.
He has published 67 manuscripts in distinguished journals such as Nature, Nature Genetics and Cell, and has 9 manuscripts with >100 citations. He has an h-index of 32 and i10-index of 50. His research has attracted 5,433 citations (Google scholar 17/05/18).
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Location
Florey Institute of Neuroscience and Mental Health
30 Royal Parade
Parkville
3052
Victoria
Australia
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Research teams
- Head ofNeurogenetics Laboratory
Research Papers
Showing 10 of 60. VIEW ALL
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Exome array analysis suggests an increased variant burden in families with schizophreniaSchizophrenia ResearchAuthor(s): McCarthy, N.S., Melton, P.E., Ward, S.V., Allan, S.M., Dragovic, M., Clark, M.L., Morar, B., Rubio, J.P., Blangero, J., Badcock, J.C., Morgan, V.A., Moses, E.K., Jablensky, A.
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Tafenoquine treatment of Plasmodium vivax malaria: Suggestive evidence that CYP2D6 reduced metabolism is not associated with relapse in the Phase 2b DETECTIVE trialMalaria Journal
- Volume: 15
- Year: 2016
Author(s): St Jean, P.L., Xue, Z., Carter, N., Koh, G.C.K.W., Duparc, S., Taylor, M., Beaumont, C., Llanos-Cuentas, A., Rueangweerayut, R., Krudsood, S., Green, J.A., Rubio, J.P.Author(s): St Jean, P.L., Xue, Z., Carter, N., Koh, G.C.K.W., Duparc, S., Taylor, M., Beaumont, C., Llanos-Cuentas, A., Rueangweerayut, R., Krudsood, S., Green, J.A., Rubio, J.P. -
Leptin's metabolic and immune functions can be uncoupled at the ligand/receptor interaction levelCellular and Molecular Life Sciences
- Year: 2015
Author(s): Zabeau, L., Jensen, C.J., Seeuws, S., Venken, K., Verhee, A., Catteeuw, D., Van Loo, G., Chen, H., Walder, K., Hollis, J., Foote, S., Morris, M.J., Van Der Heyden, J., Peelman, F., Oldfield, B.J., Rubio, J.P., Elewaut, D., Tavernier, J.Author(s): Zabeau, L., Jensen, C.J., Seeuws, S., Venken, K., Verhee, A., Catteeuw, D., Van Loo, G., Chen, H., Walder, K., Hollis, J., Foote, S., Morris, M.J., Van Der Heyden, J., Peelman, F., Oldfield, B.J., Rubio, J.P., Elewaut, D., Tavernier, J. -
Evaluation of the effect of UGT1A1 polymorphisms on dolutegravir pharmacokineticsPharmacogenomics
- Volume: 15
- Page(s): 9-16
- Year: 2014
Author(s): Chen, S., St Jean, P., Borland, J., Song, I., Yeo, A.J., Piscitelli, S., Rubio, J.P.Author(s): Chen, S., St Jean, P., Borland, J., Song, I., Yeo, A.J., Piscitelli, S., Rubio, J.P. -
Interleukin-2 receptor-α proximal promoter hypomethylation is associated with multiple sclerosisGenes and Immunity
- Year: 2017
Author(s): Field, J., Fox, A., Jordan, M.A., Baxter, A.G., Spelman, T., Gresle, M., Butzkueven, H., Kilpatrick, T.J., Rubio, J.P.Author(s): Field, J., Fox, A., Jordan, M.A., Baxter, A.G., Spelman, T., Gresle, M., Butzkueven, H., Kilpatrick, T.J., Rubio, J.P. -
Estimation of the antirelapse efficacy of tafenoquine, using plasmodium vivax genotypingJournal of Infectious Diseases
- Volume: 212
- Page(s): 794-799
- Year: 2016
Author(s): Beck, H.-P., Wampfler, R., Carter, N., Koh, G., Osorio, L., Rueangweerayut, R., Krudsood, S., Lacerda, M.V., Llanos-Cuentas, A., Duparc, S., Rubio, J.P., Green, J.A.Author(s): Beck, H.-P., Wampfler, R., Carter, N., Koh, G., Osorio, L., Rueangweerayut, R., Krudsood, S., Lacerda, M.V., Llanos-Cuentas, A., Duparc, S., Rubio, J.P., Green, J.A. -
A "Candidate-Interactome" Aggregate Analysis of Genome-Wide Association Data in Multiple SclerosisPLoS ONE
- Year: 2013
Author(s): Mechelli, R., Umeton, R., Policano, C., Annibali, V., Coarelli, G., Ricigliano, V.A.G., Vittori, D., Fornasiero, A., Buscarinu, M.C., Romano, S., Salvetti, M., Ristori, G., Sawcer, S., Hellenthal, G., Pirinen, M., Spencer, C.C.A., Patsopoulos, N.A., Moutsianas, L., Dilthey, A., Su, Z., Freeman, C., Hunt, S.E., Edkins, S., Gray, E., Booth, D.R., Potter, S.C., Goris, A., Band, G., Oturai, A.B., Strange, A., Saarela, J., Bellenguez, C., Fontaine, B., Gillman, M., Hemmer, B., Gwilliam, R., Zipp, F., Jayakumar, A., Martin, R., Leslie, S., Hawkins, S., Giannoulatou, E., D'alfonso, S., Blackburn, H., Boneschi, F.M., Liddle, J., Harbo, H.F., Perez, M.L., Spurkland, A., Waller, M.J., Mycko, M.P., Ricketts, M., Comabella, M., Hammond, N., Kockum, I., McCann, O.T., Ban, M., Whittaker, P., Kemppinen, A., Weston, P., Hawkins, C., Widaa, S., Zajicek, J., Dronov, S., Robertson, N., Bumpstead, S.J., Barcellos, L.F., Ravindrarajah, R., Abraham, R., Alfredsson, L., Ardlie, K., Aubin, C., Baker, A., Baker, K., Baranzini, S.E., Bergamaschi, L., Bergamaschi, R., Bernstein, A., Berthele, A., Boggild, M., Bradfield, J.P., Brassat, D., Broadley, S.A., Buck, D., Butzkueven, H., Capra, R., Carroll, W.M., Cavalla, P., Celius, E.G., Cepok, S., Chiavacci, R., Clerget-Darpoux, F., Clysters, K., Comi, G., Cossburn, M., Cournu-Rebeix, I., Cox, M.B., Cozen, W., Cree, B.A.C., Cross, A.H., Cusi, D., Daly, M.J., Davis, E., de Bakker, P.I.W., Debouverie, M., D'hooghe, M.B., Dixon, K., Dobosi, R., Dubois, B., Ellinghaus, D., Elovaara, I., Esposito, F., Fontenille, C., Foote, S., Franke, A., Galimberti, D., Ghezzi, A., Glessner, J., Gomez, R., Gout, O., Graham, C., Grant, S.F.A., Guerini, F.R., Hakonarson, H., Hall, P., Hamsten, A., Hartung, H.-P., Heard, R.N., Heath, S., Hobart, J., Hoshi, M., Infante-Duarte, C., Ingram, G., Ingram, W., Islam, T., Jagodic, M., Kabesch, M., Kermode, A.G., Kilpatrick, T.J., Kim, C., Klopp, N., Koivisto, K., Larsson, M., Lathrop, M., Lechner-Scott, J.S., Leone, M.A., Leppä, V., Liljedahl, U., Bomfim, I.L., Lincoln, R.R., Link, J., Liu, J., Lorentzen, Å.R., Lupoli, S., Macciardi, F., Mack, T., Marriott, M., Martinelli, V., Mason, D., McCauley, J.L., Mentch, F., Mero, I.-L., Mihalova, T., Montalban, X., Mottershead, J., Myhr, K.-M., Naldi, P., Ollier, W., Page, A., Palotie, A., Pelletier, J., Piccio, L., Pickersgill, T., Piehl, F., Pobywajlo, S., Quach, H.L., Ramsay, P.P., Reunanen, M., Reynolds, R., Rioux, J.D., Rodegher, M., Roesner, S., Rubio, J.P., Rückert, I.-M., Salvi, E., Santaniello, A., Schaefer, C.A., Schreiber, S., Schulze, C., Scott, R.J., Sellebjerg, F., Selmaj, K.W., Sexton, D., Shen, L., Simms-Acuna, B., Skidmore, S., Sleiman, P.M.A., Smestad, C., Sørensen, P.S., Søndergaard, H.B., Stankovich, J., Strange, R.C., Sulonen, A.-M., Sundqvist, E., Syvänen, A.-C., Taddeo, F., Taylor, B., Blackwell, J.M., Tienari, P., Bramon, E., Tourbah, A., Brown, M.A., Tronczynska, E., Casas, J.P., Tubridy, N., Corvin, A., Vickery, J., Jankowski, J., Villoslada, P., Markus, H.S., Wang, K., Mathew, C.G., Wason, J., Palmer, C.N.A., Wichmann, H.-E., Plomin, R., Willoughby, E., Rautanen, A., Winkelmann, J., Wittig, M., Trembath, R.C., Yaouanq, J., Viswanathan, A.C., Zhang, H., Wood, N.W., Zuvich, R., Deloukas, P., Langford, C., Duncanson, A., Oksenberg, J.R., Pericak-Vance, M.A., Haines, J.L., Olsson, T., Hillert, J., Ivinson, A.J., De Jager, P.L., Peltonen, L., Stewart, G.J., Hafler, D.A., Hauser, S.L., McVean, G., Donnelly, P., Compston, A.Author(s): Mechelli, R., Umeton, R., Policano, C., Annibali, V., Coarelli, G., Ricigliano, V.A.G., Vittori, D., Fornasiero, A., Buscarinu, M.C., Romano, S., Salvetti, M., Ristori, G., Sawcer, S., Hellenthal, G., Pirinen, M., Spencer, C.C.A., Patsopoulos, N.A., Moutsianas, L., Dilthey, A., Su, Z., Freeman, C., Hunt, S.E., Edkins, S., Gray, E., Booth, D.R., Potter, S.C., Goris, A., Band, G., Oturai, A.B., Strange, A., Saarela, J., Bellenguez, C., Fontaine, B., Gillman, M., Hemmer, B., Gwilliam, R., Zipp, F., Jayakumar, A., Martin, R., Leslie, S., Hawkins, S., Giannoulatou, E., D'alfonso, S., Blackburn, H., Boneschi, F.M., Liddle, J., Harbo, H.F., Perez, M.L., Spurkland, A., Waller, M.J., Mycko, M.P., Ricketts, M., Comabella, M., Hammond, N., Kockum, I., McCann, O.T., Ban, M., Whittaker, P., Kemppinen, A., Weston, P., Hawkins, C., Widaa, S., Zajicek, J., Dronov, S., Robertson, N., Bumpstead, S.J., Barcellos, L.F., Ravindrarajah, R., Abraham, R., Alfredsson, L., Ardlie, K., Aubin, C., Baker, A., Baker, K., Baranzini, S.E., Bergamaschi, L., Bergamaschi, R., Bernstein, A., Berthele, A., Boggild, M., Bradfield, J.P., Brassat, D., Broadley, S.A., Buck, D., Butzkueven, H., Capra, R., Carroll, W.M., Cavalla, P., Celius, E.G., Cepok, S., Chiavacci, R., Clerget-Darpoux, F., Clysters, K., Comi, G., Cossburn, M., Cournu-Rebeix, I., Cox, M.B., Cozen, W., Cree, B.A.C., Cross, A.H., Cusi, D., Daly, M.J., Davis, E., de Bakker, P.I.W., Debouverie, M., D'hooghe, M.B., Dixon, K., Dobosi, R., Dubois, B., Ellinghaus, D., Elovaara, I., Esposito, F., Fontenille, C., Foote, S., Franke, A., Galimberti, D., Ghezzi, A., Glessner, J., Gomez, R., Gout, O., Graham, C., Grant, S.F.A., Guerini, F.R., Hakonarson, H., Hall, P., Hamsten, A., Hartung, H.-P., Heard, R.N., Heath, S., Hobart, J., Hoshi, M., Infante-Duarte, C., Ingram, G., Ingram, W., Islam, T., Jagodic, M., Kabesch, M., Kermode, A.G., Kilpatrick, T.J., Kim, C., Klopp, N., Koivisto, K., Larsson, M., Lathrop, M., Lechner-Scott, J.S., Leone, M.A., Leppä, V., Liljedahl, U., Bomfim, I.L., Lincoln, R.R., Link, J., Liu, J., Lorentzen, Å.R., Lupoli, S., Macciardi, F., Mack, T., Marriott, M., Martinelli, V., Mason, D., McCauley, J.L., Mentch, F., Mero, I.-L., Mihalova, T., Montalban, X., Mottershead, J., Myhr, K.-M., Naldi, P., Ollier, W., Page, A., Palotie, A., Pelletier, J., Piccio, L., Pickersgill, T., Piehl, F., Pobywajlo, S., Quach, H.L., Ramsay, P.P., Reunanen, M., Reynolds, R., Rioux, J.D., Rodegher, M., Roesner, S., Rubio, J.P., Rückert, I.-M., Salvi, E., Santaniello, A., Schaefer, C.A., Schreiber, S., Schulze, C., Scott, R.J., Sellebjerg, F., Selmaj, K.W., Sexton, D., Shen, L., Simms-Acuna, B., Skidmore, S., Sleiman, P.M.A., Smestad, C., Sørensen, P.S., Søndergaard, H.B., Stankovich, J., Strange, R.C., Sulonen, A.-M., Sundqvist, E., Syvänen, A.-C., Taddeo, F., Taylor, B., Blackwell, J.M., Tienari, P., Bramon, E., Tourbah, A., Brown, M.A., Tronczynska, E., Casas, J.P., Tubridy, N., Corvin, A., Vickery, J., Jankowski, J., Villoslada, P., Markus, H.S., Wang, K., Mathew, C.G., Wason, J., Palmer, C.N.A., Wichmann, H.-E., Plomin, R., Willoughby, E., Rautanen, A., Winkelmann, J., Wittig, M., Trembath, R.C., Yaouanq, J., Viswanathan, A.C., Zhang, H., Wood, N.W., Zuvich, R., Deloukas, P., Langford, C., Duncanson, A., Oksenberg, J.R., Pericak-Vance, M.A., Haines, J.L., Olsson, T., Hillert, J., Ivinson, A.J., De Jager, P.L., Peltonen, L., Stewart, G.J., Hafler, D.A., Hauser, S.L., McVean, G., Donnelly, P., Compston, A. -
Effects of enzyme inducers efavirenz and tipranavir/ritonavir on the pharmacokinetics of the HIV integrase inhibitor dolutegravirEuropean Journal of Clinical Pharmacology
- Year: 2014
Author(s): Song, I., Borland, J., Chen, S., Guta, P., Lou, Y., Wilfret, D., Wajima, T., Savina, P., Peppercorn, A., Castellino, S., Wagner, D., Hosking, L., Mosteller, M., Rubio, J.P., Piscitelli, S.C.Author(s): Song, I., Borland, J., Chen, S., Guta, P., Lou, Y., Wilfret, D., Wajima, T., Savina, P., Peppercorn, A., Castellino, S., Wagner, D., Hosking, L., Mosteller, M., Rubio, J.P., Piscitelli, S.C. -
A genomewide association study of smoking relapse in four European population-based samplesPsychiatric Genetics
- Volume: 23
- Page(s): 143-152
- Year: 2013
Author(s): Tozzi, F., Teumer, A., Munafò, M., Rawal, R., Kazeem, G., Gerbaulet, M., McArdle, W., Chilcoat, H., Döring, A., Dahmen, N., Mooser, V., Nauck, M., Ring, S.M., Rubio, J.P., Vollenweider, P., Waeber, G., John, U., Völzke, H., Homuth, G., Freyberger, H.J., Völker, U., Davey-Smith, G., Gieger, C., Preisig, M., Grabe, H.J.Author(s): Tozzi, F., Teumer, A., Munafò, M., Rawal, R., Kazeem, G., Gerbaulet, M., McArdle, W., Chilcoat, H., Döring, A., Dahmen, N., Mooser, V., Nauck, M., Ring, S.M., Rubio, J.P., Vollenweider, P., Waeber, G., John, U., Völzke, H., Homuth, G., Freyberger, H.J., Völker, U., Davey-Smith, G., Gieger, C., Preisig, M., Grabe, H.J. -
A DNA resequencing array for genes involved in Parkinson's diseaseParkinsonism and Related Disorders
- Volume: 18
- Page(s): 386-390
- Year: 2012
Author(s): Wilkins, E.J., Rubio, J.P., Kotschet, K.E., Cowie, T.F., Boon, W.C., O'Hely, M., Burfoot, R., Wang, W., Sue, C.M., Speed, T.P., Stankovitch, J., Horne, M.K.Author(s): Wilkins, E.J., Rubio, J.P., Kotschet, K.E., Cowie, T.F., Boon, W.C., O'Hely, M., Burfoot, R., Wang, W., Sue, C.M., Speed, T.P., Stankovitch, J., Horne, M.K. -
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosisNature
- Volume: 476
- Page(s): 214-219
- Year: 2011
Author(s): Sawcer, S., Hellenthal, G., Pirinen, M., Spencer, C.C.A., Patsopoulos, N.A., Moutsianas, L., Dilthey, A., Su, Z., Freeman, C., Hunt, S.E., Edkins, S., Gray, E., Booth, D.R., Potter, S.C., Goris, A., Band, G., Oturai, A.B., Strange, A., Saarela, J., Bellenguez, C., Fontaine, B., Gillman, M., Hemmer, B., Gwilliam, R., Zipp, F., Jayakumar, A., Martin, R., Leslie, S., Hawkins, S., Giannoulatou, E., D'Alfonso, S., Blackburn, H., Boneschi, F.M., Liddle, J., Harbo, H.F., Perez, M.L., Spurkland, A., Waller, M.J., Mycko, M.P., Ricketts, M., Comabella, M., Hammond, N., Kockum, I., McCann, O.T., Ban, M., Whittaker, P., Kemppinen, A., Weston, P., Hawkins, C., Widaa, S., Zajicek, J., Dronov, S., Robertson, N., Bumpstead, S.J., Barcellos, L.F., Ravindrarajah, R., Abraham, R., Alfredsson, L., Ardlie, K., Aubin, C., Baker, A., Baker, K., Baranzini, S.E., Bergamaschi, L., Bergamaschi, R., Bernstein, A., Berthele, A., Boggild, M., Bradfield, J.P., Brassat, D., Broadley, S.A., Buck, D., Butzkueven, H., Capra, R., Carroll, W.M., Cavalla, P., Celius, E.G., Cepok, S., Chiavacci, R., Clerget-Darpoux, F., Clysters, K., Comi, G., Cossburn, M., Cournu-Rebeix, I., Cox, M.B., Cozen, W., Cree, B.A.C., Cross, A.H., Cusi, D., Daly, M.J., Davis, E., De Bakker, P.I.W., Debouverie, M., D'Hooghe, M.B., Dixon, K., Dobosi, R., Dubois, B., Ellinghaus, D., Elovaara, I., Esposito, F., Fontenille, C., Foote, S., Franke, A., Galimberti, D., Ghezzi, A., Glessner, J., Gomez, R., Gout, O., Graham, C., Grant, S.F.A., Guerini, F.R., Hakonarson, H., Hall, P., Hamsten, A., Hartung, H.-P., Heard, R.N., Heath, S., Hobart, J., Hoshi, M., Infante-Duarte, C., Ingram, G., Ingram, W., Islam, T., Jagodic, M., Kabesch, M., Kermode, A.G., Kilpatrick, T.J., Kim, C., Klopp, N., Koivisto, K., Larsson, M., Lathrop, M., Lechner-Scott, J.S., Leone, M.A., Leppä, V., Liljedahl, U., Bomfim, I.L., Lincoln, R.R., Link, J., Liu, J., Lorentzen, A.R., Lupoli, S., MacCiardi, F., MacK, T., Marriott, M., Martinelli, V., Mason, D., McCauley, J.L., Mentch, F., Mero, I.-L., Mihalova, T., Montalban, X., Mottershead, J., Myhr, K.-M., Naldi, P., Ollier, W., Page, A., Palotie, A., Pelletier, J., Piccio, L., Pickersgill, T., Piehl, F., Pobywajlo, S., Quach, H.L., Ramsay, P.P., Reunanen, M., Reynolds, R., Rioux, J.D., Rodegher, M., Roesner, S., Rubio, J.P., Rückert, I.-M., Salvetti, M., Salvi, E., Santaniello, A., Schaefer, C.A., Schreiber, S., Schulze, C., Scott, R.J., Sellebjerg, F., Selmaj, K.W., Sexton, D., Shen, L., Simms-Acuna, B., Skidmore, S., Sleiman, P.M.A., Smestad, C., Sørensen, P.S., Søndergaard, H.B., Stankovich, J., Strange, R.C., Sulonen, A.-M., Sundqvist, E., Syvänen, A.-C., Taddeo, F., Taylor, B., Blackwell, J.M., Tienari, P., Bramon, E., Tourbah, A., Brown, M.A., Tronczynska, E., Casas, J.P., Tubridy, N., Corvin, A., Vickery, J., Jankowski, J., Villoslada, P., Markus, H.S., Wang, K., Mathew, C.G., Wason, J., Palmer, C.N.A., Wichmann, E., Plomin, R., Willoughby, E., Rautanen, A., Winkelmann, J., Wittig, M., Trembath, R.C., Yaouanq, J., Viswanathan, A.C., Zhang, H., Wood, N.W., Zuvich, R., Deloukas, P., Langford, C., Duncanson, A., Oksenberg, J.R., Pericak-Vance, M.A., Haines, J.L., Olsson, T., Hillert, J., Ivinson, A.J., De Jager, P.L., Peltonen, L., Stewart, G.J., Hafler, D.A., Hauser, S.L., McVean, G., Donnelly, P., Compston, A.Author(s): Sawcer, S., Hellenthal, G., Pirinen, M., Spencer, C.C.A., Patsopoulos, N.A., Moutsianas, L., Dilthey, A., Su, Z., Freeman, C., Hunt, S.E., Edkins, S., Gray, E., Booth, D.R., Potter, S.C., Goris, A., Band, G., Oturai, A.B., Strange, A., Saarela, J., Bellenguez, C., Fontaine, B., Gillman, M., Hemmer, B., Gwilliam, R., Zipp, F., Jayakumar, A., Martin, R., Leslie, S., Hawkins, S., Giannoulatou, E., D'Alfonso, S., Blackburn, H., Boneschi, F.M., Liddle, J., Harbo, H.F., Perez, M.L., Spurkland, A., Waller, M.J., Mycko, M.P., Ricketts, M., Comabella, M., Hammond, N., Kockum, I., McCann, O.T., Ban, M., Whittaker, P., Kemppinen, A., Weston, P., Hawkins, C., Widaa, S., Zajicek, J., Dronov, S., Robertson, N., Bumpstead, S.J., Barcellos, L.F., Ravindrarajah, R., Abraham, R., Alfredsson, L., Ardlie, K., Aubin, C., Baker, A., Baker, K., Baranzini, S.E., Bergamaschi, L., Bergamaschi, R., Bernstein, A., Berthele, A., Boggild, M., Bradfield, J.P., Brassat, D., Broadley, S.A., Buck, D., Butzkueven, H., Capra, R., Carroll, W.M., Cavalla, P., Celius, E.G., Cepok, S., Chiavacci, R., Clerget-Darpoux, F., Clysters, K., Comi, G., Cossburn, M., Cournu-Rebeix, I., Cox, M.B., Cozen, W., Cree, B.A.C., Cross, A.H., Cusi, D., Daly, M.J., Davis, E., De Bakker, P.I.W., Debouverie, M., D'Hooghe, M.B., Dixon, K., Dobosi, R., Dubois, B., Ellinghaus, D., Elovaara, I., Esposito, F., Fontenille, C., Foote, S., Franke, A., Galimberti, D., Ghezzi, A., Glessner, J., Gomez, R., Gout, O., Graham, C., Grant, S.F.A., Guerini, F.R., Hakonarson, H., Hall, P., Hamsten, A., Hartung, H.-P., Heard, R.N., Heath, S., Hobart, J., Hoshi, M., Infante-Duarte, C., Ingram, G., Ingram, W., Islam, T., Jagodic, M., Kabesch, M., Kermode, A.G., Kilpatrick, T.J., Kim, C., Klopp, N., Koivisto, K., Larsson, M., Lathrop, M., Lechner-Scott, J.S., Leone, M.A., Leppä, V., Liljedahl, U., Bomfim, I.L., Lincoln, R.R., Link, J., Liu, J., Lorentzen, A.R., Lupoli, S., MacCiardi, F., MacK, T., Marriott, M., Martinelli, V., Mason, D., McCauley, J.L., Mentch, F., Mero, I.-L., Mihalova, T., Montalban, X., Mottershead, J., Myhr, K.-M., Naldi, P., Ollier, W., Page, A., Palotie, A., Pelletier, J., Piccio, L., Pickersgill, T., Piehl, F., Pobywajlo, S., Quach, H.L., Ramsay, P.P., Reunanen, M., Reynolds, R., Rioux, J.D., Rodegher, M., Roesner, S., Rubio, J.P., Rückert, I.-M., Salvetti, M., Salvi, E., Santaniello, A., Schaefer, C.A., Schreiber, S., Schulze, C., Scott, R.J., Sellebjerg, F., Selmaj, K.W., Sexton, D., Shen, L., Simms-Acuna, B., Skidmore, S., Sleiman, P.M.A., Smestad, C., Sørensen, P.S., Søndergaard, H.B., Stankovich, J., Strange, R.C., Sulonen, A.-M., Sundqvist, E., Syvänen, A.-C., Taddeo, F., Taylor, B., Blackwell, J.M., Tienari, P., Bramon, E., Tourbah, A., Brown, M.A., Tronczynska, E., Casas, J.P., Tubridy, N., Corvin, A., Vickery, J., Jankowski, J., Villoslada, P., Markus, H.S., Wang, K., Mathew, C.G., Wason, J., Palmer, C.N.A., Wichmann, E., Plomin, R., Willoughby, E., Rautanen, A., Winkelmann, J., Wittig, M., Trembath, R.C., Yaouanq, J., Viswanathan, A.C., Zhang, H., Wood, N.W., Zuvich, R., Deloukas, P., Langford, C., Duncanson, A., Oksenberg, J.R., Pericak-Vance, M.A., Haines, J.L., Olsson, T., Hillert, J., Ivinson, A.J., De Jager, P.L., Peltonen, L., Stewart, G.J., Hafler, D.A., Hauser, S.L., McVean, G., Donnelly, P., Compston, A. -
An 18-kDa Translocator Protein (TSPO) polymorphism explains differences in binding affinity of the PET radioligand PBR28Journal of Cerebral Blood Flow and Metabolism
- Volume: 32
- Page(s): 1-5
- Year: 2012
Author(s): Owen, D.R., Yeo, A.J., Gunn, R.N., Song, K., Wadsworth, G., Lewis, A., Rhodes, C., Pulford, D.J., Bennacef, I., Parker, C.A., Stjean, P.L., Cardon, L.R., Mooser, V.E., Matthews, P.M., Rabiner, E.A., Rubio, J.P.Author(s): Owen, D.R., Yeo, A.J., Gunn, R.N., Song, K., Wadsworth, G., Lewis, A., Rhodes, C., Pulford, D.J., Bennacef, I., Parker, C.A., Stjean, P.L., Cardon, L.R., Mooser, V.E., Matthews, P.M., Rabiner, E.A., Rubio, J.P. -
Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChipsBMC Bioinformatics
- Year: 2011
Author(s): Ritchie, M.E., Liu, R., Carvalho, B.S., Irizarry, R.A., Bahlo, M., Booth, D.R., Broadley, S.A., Brown, M.A., Foote, S.J., Griffiths, L.R., Kilpatrick, T.J., Lechner-Scott, J., Moscato, P., Perreau, V.M., Rubio, J.P., Scott, R.J., Stankovich, J., Stewart, G.J., Taylor, B.V., Wiley, J., Brown, M.A., Booth, D.R., Clarke, G., Cox, M.B., Csurhes, P.A., Danoy, P., Dickinson, J.L., Drysdale, K., Field, J., Foote, S.J., Greer, J.M., Guru, P., Hadler, J., Hoban, E., McMorran, B.J., Jensen, C.J., Johnson, L.J., McCallum, R., Merriman, M., Merriman, T., Polanowski, A., Pryce, K., Scott, R.J., Stewart, G.J., Tajouri, L., Whittock, L., Wilkins, E.J., Rubio, J.P., Bahlo, M., Brown, M.A., Browning, B.L., Browning, S.R., Perera, D., Rubio, J.P., Broadley, S., Broadley, S., Butzkueven, H., Carroll, W.M., Kermode, A.G., Marriott, M., Mason, D., Heard, R.N., Pender, M.P., Pender, M.P., Tubridy, N., Lechner-Scott, J., Taylor, B.V., Willoughby, E., Kilpatrick, T.J., Kilpatrick, T.J.Author(s): Ritchie, M.E., Liu, R., Carvalho, B.S., Irizarry, R.A., Bahlo, M., Booth, D.R., Broadley, S.A., Brown, M.A., Foote, S.J., Griffiths, L.R., Kilpatrick, T.J., Lechner-Scott, J., Moscato, P., Perreau, V.M., Rubio, J.P., Scott, R.J., Stankovich, J., Stewart, G.J., Taylor, B.V., Wiley, J., Brown, M.A., Booth, D.R., Clarke, G., Cox, M.B., Csurhes, P.A., Danoy, P., Dickinson, J.L., Drysdale, K., Field, J., Foote, S.J., Greer, J.M., Guru, P., Hadler, J., Hoban, E., McMorran, B.J., Jensen, C.J., Johnson, L.J., McCallum, R., Merriman, M., Merriman, T., Polanowski, A., Pryce, K., Scott, R.J., Stewart, G.J., Tajouri, L., Whittock, L., Wilkins, E.J., Rubio, J.P., Bahlo, M., Brown, M.A., Browning, B.L., Browning, S.R., Perera, D., Rubio, J.P., Broadley, S., Broadley, S., Butzkueven, H., Carroll, W.M., Kermode, A.G., Marriott, M., Mason, D., Heard, R.N., Pender, M.P., Pender, M.P., Tubridy, N., Lechner-Scott, J., Taylor, B.V., Willoughby, E., Kilpatrick, T.J., Kilpatrick, T.J. -
SIRT1 activates MAO-A in the brain to mediate anxiety and exploratory driveCell
- Volume: 147
- Page(s): 1459-1472
- Year: 2011
Author(s): Libert, S., Pointer, K., Bell, E.L., Das, A., Cohen, D.E., Asara, J.M., Kapur, K., Bergmann, S., Preisig, M., Otowa, T., Kendler, K.S., Chen, X., Hettema, J.M., Van Den Oord, E.J., Rubio, J.P., Guarente, L.Author(s): Libert, S., Pointer, K., Bell, E.L., Das, A., Cohen, D.E., Asara, J.M., Kapur, K., Bergmann, S., Preisig, M., Otowa, T., Kendler, K.S., Chen, X., Hettema, J.M., Van Den Oord, E.J., Rubio, J.P., Guarente, L. -
A genome-wide association study in progressive multiple sclerosisMultiple Sclerosis Journal
- Volume: 18
- Page(s): 1384-1394
- Year: 2012
Author(s): Martinelli-Boneschi, F., Esposito, F., Brambilla, P., Lindström, E., Lavorgna, G., Stankovich, J., Rodegher, M., Capra, R., Ghezzi, A., Coniglio, G., Colombo, B., Sorosina, M., Martinelli, V., Booth, D., Oturai, A.B., Stewart, G., Harbo, H.F., Kilpatrick, T.J., Hillert, J., Rubio, J.P., Abderrahim, H., Wojcik, J., Comi, G.Author(s): Martinelli-Boneschi, F., Esposito, F., Brambilla, P., Lindström, E., Lavorgna, G., Stankovich, J., Rodegher, M., Capra, R., Ghezzi, A., Coniglio, G., Colombo, B., Sorosina, M., Martinelli, V., Booth, D., Oturai, A.B., Stewart, G., Harbo, H.F., Kilpatrick, T.J., Hillert, J., Rubio, J.P., Abderrahim, H., Wojcik, J., Comi, G. -
Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association dataGenome Medicine
- Volume: 3
- Year: 2011
Author(s): Wang, J.H., Pappas, D., De Jager, P.L., Pelletier, D., de Bakker, P.I.W., Kappos, L., Polman, C.H., Chibnik, L.B., Bahlo, M., Hafler, D.A., Matthews, P.M., Hauser, S.L., Baranzini, S.E., Oksenberg, J.R., Booth, D.R., Broadley, S.A., Brown, M.A., Foote, S.J., Griffiths, L.R., Kilpatrick, T.J., Lechner-Scott, J., Moscato, P., Perreau, V.M., Rubio, J.P., Scott, R.J., Stankovich, J., Stewart, G.J., Taylor, B.V., Wiley, J., Danoy, P., Butzkueven, H., Slee, M., Greer, J., Kermode, A., Carroll, W.Author(s): Wang, J.H., Pappas, D., De Jager, P.L., Pelletier, D., de Bakker, P.I.W., Kappos, L., Polman, C.H., Chibnik, L.B., Bahlo, M., Hafler, D.A., Matthews, P.M., Hauser, S.L., Baranzini, S.E., Oksenberg, J.R., Booth, D.R., Broadley, S.A., Brown, M.A., Foote, S.J., Griffiths, L.R., Kilpatrick, T.J., Lechner-Scott, J., Moscato, P., Perreau, V.M., Rubio, J.P., Scott, R.J., Stankovich, J., Stewart, G.J., Taylor, B.V., Wiley, J., Danoy, P., Butzkueven, H., Slee, M., Greer, J., Kermode, A., Carroll, W. -
Heterogeneity at the HLA-DRB1 allelic variation locus does not influence multiple sclerosis disease severity, brain atrophy or cognitionMultiple Sclerosis Journal
- Volume: 17
- Page(s): 344-352
- Year: 2011
Author(s): Van Der Walt, A., Stankovich, J., Bahlo, M., Taylor, B.V., Van Der Mei, I., Foote, S.J., Rubio, J.P., Kilpatrick, T.J., Butzkueven, H.Author(s): Van Der Walt, A., Stankovich, J., Bahlo, M., Taylor, B.V., Van Der Mei, I., Foote, S.J., Rubio, J.P., Kilpatrick, T.J., Butzkueven, H. -
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility lociAnnals of Neurology
- Volume: 70
- Page(s): 897-912
- Year: 2011
Author(s): Patsopoulos, N.A., Esposito, F., Reischl, J., Lehr, S., Bauer, D., Heubach, J., Sandbrink, R., Pohl, C., Edan, G., Kappos, L., Miller, D., Montalbán, J., Polman, C.H., Freedman, M.S., Hartung, H.-P., Arnason, B.G.W., Comi, G., Cook, S., Filippi, M., Goodin, D.S., Jeffery, D., O'Connor, P., Ebers, G.C., Langdon, D., Reder, A.T., Traboulsee, A., Zipp, F., Schimrigk, S., Hillert, J., Bahlo, M., Booth, D.R., Broadley, S., Brown, M.A., Browning, B.L., Browning, S.R., Butzkueven, H., Carroll, W.M., Chapman, C., Foote, S.J., Griffiths, L., Kermode, A.G., Kilpatrick, T.J., Lechner-Scott, J., Marriott, M., Mason, D., Moscato, P., Heard, R.N., Pender, M.P., Perreau, V.M., Perera, D., Rubio, J.P., Scott, R.J., Slee, M., Stankovich, J., Stewart, G.J., Taylor, B.V., Tubridy, N., Willoughby, E., Wiley, J., Matthews, P., Boneschi, F.M., Compston, A., Haines, J., Hauser, S.L., McCauley, J., Ivinson, A., Oksenberg, J.R., Pericak-Vance, M., Sawcer, S.J., De Jager, P.L., Hafler, D.A., de Bakker, P.I.W.Author(s): Patsopoulos, N.A., Esposito, F., Reischl, J., Lehr, S., Bauer, D., Heubach, J., Sandbrink, R., Pohl, C., Edan, G., Kappos, L., Miller, D., Montalbán, J., Polman, C.H., Freedman, M.S., Hartung, H.-P., Arnason, B.G.W., Comi, G., Cook, S., Filippi, M., Goodin, D.S., Jeffery, D., O'Connor, P., Ebers, G.C., Langdon, D., Reder, A.T., Traboulsee, A., Zipp, F., Schimrigk, S., Hillert, J., Bahlo, M., Booth, D.R., Broadley, S., Brown, M.A., Browning, B.L., Browning, S.R., Butzkueven, H., Carroll, W.M., Chapman, C., Foote, S.J., Griffiths, L., Kermode, A.G., Kilpatrick, T.J., Lechner-Scott, J., Marriott, M., Mason, D., Moscato, P., Heard, R.N., Pender, M.P., Perreau, V.M., Perera, D., Rubio, J.P., Scott, R.J., Slee, M., Stankovich, J., Stewart, G.J., Taylor, B.V., Tubridy, N., Willoughby, E., Wiley, J., Matthews, P., Boneschi, F.M., Compston, A., Haines, J., Hauser, S.L., McCauley, J., Ivinson, A., Oksenberg, J.R., Pericak-Vance, M., Sawcer, S.J., De Jager, P.L., Hafler, D.A., de Bakker, P.I.W. -
Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in EuropeHuman Mutation
- Volume: 33
- Page(s): 1087-1098
- Year: 2012
Author(s): Rubio, J.P., Topp, S., Warren, L., St. Jean, P.L., Wegmann, D., Kessner, D., Novembre, J., Shen, J., Fraser, D., Aponte, J., Nangle, K., Cardon, L.R., Ehm, M.G., Chissoe, S.L., Whittaker, J.C., Nelson, M.R., Mooser, V.E.Author(s): Rubio, J.P., Topp, S., Warren, L., St. Jean, P.L., Wegmann, D., Kessner, D., Novembre, J., Shen, J., Fraser, D., Aponte, J., Nangle, K., Cardon, L.R., Ehm, M.G., Chissoe, S.L., Whittaker, J.C., Nelson, M.R., Mooser, V.E. -
A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosisPLoS ONE
- Volume: 5
- Year: 2010
Author(s): Field, J., Browning, S.R., Johnson, L.J., Danoy, P., Varney, M.D., Tait, B.D., Gandhi, K.S., Charlesworth, J.C., Heard, R.N., Stewart, G.J., Kilpatrick, T.J., Foote, S.J., Bahlo, M., Butzkueven, H., Wiley, J., Booth, D.R., Taylor, B.V., Brown, M.A., Rubio, J.P., Stankovich, J., Broadley, S.A., Browning, B.L., Carroll, W.M., Griffiths, L.R., Kermode, A.G., Lechner-Scott, J., Moscato, P., Perreau, V.M., Scott, R.J., Slee, M.Author(s): Field, J., Browning, S.R., Johnson, L.J., Danoy, P., Varney, M.D., Tait, B.D., Gandhi, K.S., Charlesworth, J.C., Heard, R.N., Stewart, G.J., Kilpatrick, T.J., Foote, S.J., Bahlo, M., Butzkueven, H., Wiley, J., Booth, D.R., Taylor, B.V., Brown, M.A., Rubio, J.P., Stankovich, J., Broadley, S.A., Browning, B.L., Carroll, W.M., Griffiths, L.R., Kermode, A.G., Lechner-Scott, J., Moscato, P., Perreau, V.M., Scott, R.J., Slee, M. -
Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locusJournal of Neuroimmunology
- Volume: 211
- Page(s): 105-109
- Year: 2009
Author(s): Perera, D., Stankovich, J., Butzkueven, H., Taylor, B.V., Foote, S.J., Kilpatrick, T.J., Rubio, J.P.Author(s): Perera, D., Stankovich, J., Butzkueven, H., Taylor, B.V., Foote, S.J., Kilpatrick, T.J., Rubio, J.P. -
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20Nature Genetics
- Volume: 41
- Page(s): 824-828
- Year: 2009
Author(s): Bahlo, M., Booth, D.R., Simon A Broadley, Brown, M.A., Foote, S.J., Griffiths, L.R., Kilpatrick, T.J., Lechner-Scott, J., Moscato, P., Perreau, V.M., Rubio, J.P., Scott, R.J., Stankovich, J., Stewart, G.J., Taylor, B.V., Wiley, J., Clarke, G., Cox, M.B., Csurhes, P.A., Danoy, P., Drysdale, K., Field, J., Greer, J.M., Guru, P., Hadler, J., McMorran, B.J., Jensen, C.J., Johnson, L.J., McCallum, R., Merriman, M., Merriman, T., Pryce, K., Tajouri, L., Wilkins, E.J., Browning, B.L., Browning, S.R., Perera, D., Broadley, S., Butzkueven, H., Carroll, W.M., Chapman, C., Kermode, A.G., Marriott, M., Mason, D., Heard, R.N., Pender, M.P., Slee, M., Tubridy, N., Willoughby, E.Author(s): Bahlo, M., Booth, D.R., Simon A Broadley, Brown, M.A., Foote, S.J., Griffiths, L.R., Kilpatrick, T.J., Lechner-Scott, J., Moscato, P., Perreau, V.M., Rubio, J.P., Scott, R.J., Stankovich, J., Stewart, G.J., Taylor, B.V., Wiley, J., Clarke, G., Cox, M.B., Csurhes, P.A., Danoy, P., Drysdale, K., Field, J., Greer, J.M., Guru, P., Hadler, J., McMorran, B.J., Jensen, C.J., Johnson, L.J., McCallum, R., Merriman, M., Merriman, T., Pryce, K., Tajouri, L., Wilkins, E.J., Browning, B.L., Browning, S.R., Perera, D., Broadley, S., Butzkueven, H., Carroll, W.M., Chapman, C., Kermode, A.G., Marriott, M., Mason, D., Heard, R.N., Pender, M.P., Slee, M., Tubridy, N., Willoughby, E. -
Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patientsPLoS ONE
- Volume: 5
- Year: 2010
Author(s): Jensen, C.J., Stankovich, J., Van der Walt, A., Bahlo, M., Taylor, B.V., van der Mei, I.A.F., Foote, S.J., Kilpatrick, T.J., Johnson, L.J., Wilkins, E., Field, J., Danoy, P., Brown, M.A., Rubio, J.P., Butzkueven, H., Booth, D.R., Broadley, S.A., Brown, M.A., Browning, B.L., Browning, S.R., Carroll, W.M., Danoy, P., Griffiths, L.R., Heard, R.N., Kermode, A.G., Lechner-Scott, J., Moscato, P., Perreau, V.M., Scott, R.J., Slee, M., Stewart, G.J., Wiley, J.Author(s): Jensen, C.J., Stankovich, J., Van der Walt, A., Bahlo, M., Taylor, B.V., van der Mei, I.A.F., Foote, S.J., Kilpatrick, T.J., Johnson, L.J., Wilkins, E., Field, J., Danoy, P., Brown, M.A., Rubio, J.P., Butzkueven, H., Booth, D.R., Broadley, S.A., Brown, M.A., Browning, B.L., Browning, S.R., Carroll, W.M., Danoy, P., Griffiths, L.R., Heard, R.N., Kermode, A.G., Lechner-Scott, J., Moscato, P., Perreau, V.M., Scott, R.J., Slee, M., Stewart, G.J., Wiley, J. -
Common variation in the MOG gene influences transcript splicing in humansJournal of Neuroimmunology
- Volume: 229
- Page(s): 225-231
- Year: 2010
Author(s): Jensen, C.J., Stankovich, J., Butzkueven, H., Oldfield, B.J., Rubio, J.P.Author(s): Jensen, C.J., Stankovich, J., Butzkueven, H., Oldfield, B.J., Rubio, J.P. -
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonismClinical Genetics
- Volume: 76
- Page(s): 471-476
- Year: 2009
Author(s): Loesch, D.Z., Khaniani, M.S., Slater, H.R., Rubio, J.P., Bui, Q.M., Kotschet, K., D'Souza, W., Venn, A., Kalitsis, P., Choo, A.K.H., Burgess, T., Johnson, L., Evans, A., Horne, M.Author(s): Loesch, D.Z., Khaniani, M.S., Slater, H.R., Rubio, J.P., Bui, Q.M., Kotschet, K., D'Souza, W., Venn, A., Kalitsis, P., Choo, A.K.H., Burgess, T., Johnson, L., Evans, A., Horne, M. -
Splicing, cis genetic variation and diseaseBiochemical Society Transactions
- Volume: 37
- Page(s): 1311-1315
- Year: 2009
Author(s): Jensen, C.J., Oldfield, B.J., Rubio, J.P.Author(s): Jensen, C.J., Oldfield, B.J., Rubio, J.P. -
HLA-DRB1 associations with disease susceptibility and clinical course in Australians with multiple sclerosisTissue Antigens
- Volume: 74
- Page(s): 17-21
- Year: 2009
Author(s): Stankovich, J., Butzkueven, H., Marriott, M., Chapman, C., Tubridy, N., Tait, B.D., Varney, M.D., Taylor, B.V., Foote, S.J., Kilpatrick, T.J., Rubio, J.P., Booth, D.R., Broadley, S., Greer, J.M., Grifffiths, L.R., Heard, R.N., Lechner-Scott, J., Pender, M.J., Scott, R.J., Stewart, G.J.Author(s): Stankovich, J., Butzkueven, H., Marriott, M., Chapman, C., Tubridy, N., Tait, B.D., Varney, M.D., Taylor, B.V., Foote, S.J., Kilpatrick, T.J., Rubio, J.P., Booth, D.R., Broadley, S., Greer, J.M., Grifffiths, L.R., Heard, R.N., Lechner-Scott, J., Pender, M.J., Scott, R.J., Stewart, G.J. -
Saliva-derived DNA performs well in large-scale, high-density single-nucleotide polymorphism microarray studiesCancer Epidemiology Biomarkers and Prevention
- Volume: 19
- Page(s): 794-798
- Year: 2010
Author(s): Bahlo, M., Stankovich, J., Danoy, P., Hickey, P.F., Taylor, B.V., Browning, S.R., Brown, M.A., Rubio, J.P.Author(s): Bahlo, M., Stankovich, J., Danoy, P., Hickey, P.F., Taylor, B.V., Browning, S.R., Brown, M.A., Rubio, J.P. -
Genetic deficiency of plasma lipoprotein-associated phospholipase A 2 (PLA2G7 V297F null mutation) and risk of Alzheimer's disease in JapanJournal of Alzheimer's Disease
- Year: 2010
Author(s): Koshy, B., Miyashita, A., St. Jean, P., Stirnadel, H., Kaise, T., Rubio, J.P., Mooser, V., Kuwano, R., Irizarry, M.C.Author(s): Koshy, B., Miyashita, A., St. Jean, P., Stirnadel, H., Kaise, T., Rubio, J.P., Mooser, V., Kuwano, R., Irizarry, M.C. -
Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophyNeurology
- Volume: 73
- Page(s): 1018-1025
- Year: 2009
Author(s): Van Der Walt, A., Stankovich, J., Bahlo, M., Taylor, B.V., Van Der Mei, I.A.F., Foote, S.J., Kilpatrick, T.J., Rubio, J.P., Butzkueven, H.Author(s): Van Der Walt, A., Stankovich, J., Bahlo, M., Taylor, B.V., Van Der Mei, I.A.F., Foote, S.J., Kilpatrick, T.J., Rubio, J.P., Butzkueven, H. -
An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in AustraliansBMC Medical Genetics
- Volume: 7
- Year: 2006
Author(s): Bugeja, M.J., Booth, D., Bennetts, B., Heard, R., Rubio, J., Stewart, G.Author(s): Bugeja, M.J., Booth, D., Bennetts, B., Heard, R., Rubio, J., Stewart, G. -
Haplotypes of the interleukin 7 receptor alpha gene are correlated with altered expression in whole blood cells in multiple sclerosisGenes and Immunity
- Volume: 9
- Page(s): 1-6
- Year: 2008
Author(s): McKay, F.C., Swain, L.I., Schibeci, S.D., Rubio, J.P., Kilpatrick, T.J., Heard, R.N., Stewart, G.J., Booth, D.R.Author(s): McKay, F.C., Swain, L.I., Schibeci, S.D., Rubio, J.P., Kilpatrick, T.J., Heard, R.N., Stewart, G.J., Booth, D.R. -
CD127 immunophenotyping suggests altered CD4+ T cell regulation in primary progressive multiple sclerosisJournal of Autoimmunity
- Volume: 31
- Page(s): 52-58
- Year: 2008
Author(s): McKay, F.C., Swain, L.I., Schibeci, S.D., Rubio, J.P., Kilpatrick, T.J., Heard, R.N., Stewart, G.J., Booth, D.R.Author(s): McKay, F.C., Swain, L.I., Schibeci, S.D., Rubio, J.P., Kilpatrick, T.J., Heard, R.N., Stewart, G.J., Booth, D.R. -
Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in AustraliansGenes and Immunity
- Volume: 9
- Page(s): 624-630
- Year: 2008
Author(s): Rubio, J.P., Stankovich, J., Field, J., Tubridy, N., Marriott, M., Chapman, C., Bahlo, M., Perera, D., Johnson, L.J., Tait, B.D., Varney, M.D., Speed, T.P., Taylor, B.V., Foote, S.J., Butzkueven, H., Kilpatrick, T.J.Author(s): Rubio, J.P., Stankovich, J., Field, J., Tubridy, N., Marriott, M., Chapman, C., Bahlo, M., Perera, D., Johnson, L.J., Tait, B.D., Varney, M.D., Speed, T.P., Taylor, B.V., Foote, S.J., Butzkueven, H., Kilpatrick, T.J. -
Validation of linear cerebral atrophy markers in multiple sclerosisJournal of Clinical Neuroscience
- Volume: 15
- Page(s): 130-137
- Year: 2008
Author(s): Butzkueven, H., Kolbe, S.C., Jolley, D.J., Brown, J.Y., Cook, M.J., van der Mei, I.A.F., Groom, P.S., Carey, J., Eckholdt, J., Rubio, J.P., Taylor, B.V., Mitchell, P.J., Egan, G.F., Kilpatrick, T.J.Author(s): Butzkueven, H., Kolbe, S.C., Jolley, D.J., Brown, J.Y., Cook, M.J., van der Mei, I.A.F., Groom, P.S., Carey, J., Eckholdt, J., Rubio, J.P., Taylor, B.V., Mitchell, P.J., Egan, G.F., Kilpatrick, T.J. -
Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patientsImmunogenetics
- Volume: 59
- Page(s): 177-186
- Year: 2007
Author(s): Rubio, J.P., Bahlo, M., Stankovich, J., Burfoot, R.K., Johnson, L.J., Huxtable, S., Butzkueven, H., Lin, L., Taylor, B.V., Speed, T.P., Kilpatrick, T.J., Mignot, E., Foote, S.J.Author(s): Rubio, J.P., Bahlo, M., Stankovich, J., Burfoot, R.K., Johnson, L.J., Huxtable, S., Butzkueven, H., Lin, L., Taylor, B.V., Speed, T.P., Kilpatrick, T.J., Mignot, E., Foote, S.J. -
Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's diseaseMovement Disorders
- Volume: 22
- Page(s): 982-989
- Year: 2007
Author(s): Huang, Y., Halliday, G.M., Vandebona, H., Mellick, G.D., Mastaglia, F., Stevens, J., Kwok, J., Garlepp, M., Silburn, P.A., Horne, M.K., Kotschet, K., Venn, A., Rowe, D.B., Rubio, J.P., Sue, C.M.Author(s): Huang, Y., Halliday, G.M., Vandebona, H., Mellick, G.D., Mastaglia, F., Stevens, J., Kwok, J., Garlepp, M., Silburn, P.A., Horne, M.K., Kotschet, K., Venn, A., Rowe, D.B., Rubio, J.P., Sue, C.M. -
Variants of ST8SIA1 are associated with risk of developing multiple sclerosisPLoS ONE
- Volume: 3
- Year: 2008
Author(s): Husain, S., Yildirim-Toruner, C., Rubio, J.P., Field, J., Schwalb, M., Cook, S., Devoto, M., Vitale, E.Author(s): Husain, S., Yildirim-Toruner, C., Rubio, J.P., Field, J., Schwalb, M., Cook, S., Devoto, M., Vitale, E. -
SNP mapping and candidate gene sequencing in the class I region of the HLA complex: Searching for multiple sclerosis susceptibility genes in TasmaniansTissue Antigens
- Volume: 71
- Page(s): 42-50
- Year: 2008
Author(s): Burfoot, R.K., Jensen, C.J., Field, J., Stankovich, J., Varney, M.D., Johnson, L.J., Butzkueven, H., Booth, D., Bahlo, M., Tait, B.D., Taylor, B.V., Speed, T.P., Heard, R., Stewart, G.J., Foote, S.J., Kilpatrick, T.J., Rubio, J.P.Author(s): Burfoot, R.K., Jensen, C.J., Field, J., Stankovich, J., Varney, M.D., Johnson, L.J., Butzkueven, H., Booth, D., Bahlo, M., Tait, B.D., Taylor, B.V., Speed, T.P., Heard, R., Stewart, G.J., Foote, S.J., Kilpatrick, T.J., Rubio, J.P. -
Detecting genome wide haplotype sharing using SNP or microsatellite haplotype dataHuman Genetics
- Volume: 119
- Page(s): 38-50
- Year: 2006
Author(s): Bahlo, M., Stankovich, J., Speed, T.P., Rubio, J.P., Burfoot, R.K., Foote, S.J.Author(s): Bahlo, M., Stankovich, J., Speed, T.P., Rubio, J.P., Burfoot, R.K., Foote, S.J. -
Multiple sclerosis severity score: Using disability and disease duration to rate disease severityNeurology
- Volume: 64
- Page(s): 1144-1151
- Year: 2005
Author(s): Roxburgh, R.H.S.R., Seaman, S.R., Masterman, T., Hensiek, A.E., Sawcer, S.J., Vukusic, S., Achiti, I., Confavreux, C., Coustans, M., Le Page, E., Edan, G., McDonnell, G.V., Hawkins, S., Trojano, M., Liguori, M., Cocco, E., Marrosu, M.G., Tesser, F., Leone, M.A., Weber, A., Zipp, F., Miterski, B., Epplen, J.T., Oturai, A., Sørensen, P.S., Celius, E.G., Lara, N.T., Montalban, X., Villoslada, P., Silva, A.M., Marta, M., Leite, I., Dubois, B., Rubio, J., Butzkueven, H., Kilpatrick, T., Mycko, M.P., Selmaj, K.W., Rio, M.E., Sá, M., Salemi, G., Savettieri, G., Hillert, J., Compston, D.A.S.Author(s): Roxburgh, R.H.S.R., Seaman, S.R., Masterman, T., Hensiek, A.E., Sawcer, S.J., Vukusic, S., Achiti, I., Confavreux, C., Coustans, M., Le Page, E., Edan, G., McDonnell, G.V., Hawkins, S., Trojano, M., Liguori, M., Cocco, E., Marrosu, M.G., Tesser, F., Leone, M.A., Weber, A., Zipp, F., Miterski, B., Epplen, J.T., Oturai, A., Sørensen, P.S., Celius, E.G., Lara, N.T., Montalban, X., Villoslada, P., Silva, A.M., Marta, M., Leite, I., Dubois, B., Rubio, J., Butzkueven, H., Kilpatrick, T., Mycko, M.P., Selmaj, K.W., Rio, M.E., Sá, M., Salemi, G., Savettieri, G., Hillert, J., Compston, D.A.S. -
Multiple sclerosis: A haplotype association studyNovartis Foundation Symposium
- Volume: 267
- Page(s): 31-39
- Year: 2005
Author(s): Foote, S.J., Rubio, J.P., Bahlo, M., Kilpatrick, T.J., Speed, T.P., Stankovich, J., Burfoot, R., Butzkueven, H., Johnson, L., Wilkinson, C., Taylor, B., Sale, M., Van Der Mei, I.A.F., Dickinson, J.L., Groom, P.Author(s): Foote, S.J., Rubio, J.P., Bahlo, M., Kilpatrick, T.J., Speed, T.P., Stankovich, J., Burfoot, R., Butzkueven, H., Johnson, L., Wilkinson, C., Taylor, B., Sale, M., Van Der Mei, I.A.F., Dickinson, J.L., Groom, P. -
Identifying nineteenth century genealogical links from genotypesHuman Genetics
- Volume: 117
- Page(s): 188-199
- Year: 2005
Author(s): Stankovich, J., Bahlo, M., Rubio, J.P., Wilkinson, C.R., Thomson, R., Banks, A., Ring, M., Foote, S.J., Speed, T.P.Author(s): Stankovich, J., Bahlo, M., Rubio, J.P., Wilkinson, C.R., Thomson, R., Banks, A., Ring, M., Foote, S.J., Speed, T.P. -
On the utility of data from the international HapMap project for Australian association studiesHuman Genetics
- Volume: 119
- Page(s): 220-222
- Year: 2006
Author(s): Stankovich, J., Cox, C.J., Tan, R.B., Montgomery, D.S., Huxtable, S.J., Rubio, J.P., Ehm, M.G., Johnson, L., Butzkueven, H., Kilpatrick, T.J., Speed, T.P., Roses, A.D., Bahlo, M., Foote, S.J.Author(s): Stankovich, J., Cox, C.J., Tan, R.B., Montgomery, D.S., Huxtable, S.J., Rubio, J.P., Ehm, M.G., Johnson, L., Butzkueven, H., Kilpatrick, T.J., Speed, T.P., Roses, A.D., Bahlo, M., Foote, S.J. -
McLeod neuroacanthocytosis: Genotype and phenotypeAnnals of Neurology
- Volume: 50
- Page(s): 755-764
- Year: 2001
Author(s): Danek, A., Rubio, J.P., Rampoldi, L., Ho, M., Dobson-Stone, C., Tison, F., Symmans, W.A., Oechsner, M., Kalckreuth, W., Watt, J.M., Corbett, A.J., Hamdalla, H.H.M., Marshall, A.G., Sutton, I., Dotti, M.T., Malandrini, A., Walker, R.H., Daniels, G., Monaco, A.P.Author(s): Danek, A., Rubio, J.P., Rampoldi, L., Ho, M., Dobson-Stone, C., Tison, F., Symmans, W.A., Oechsner, M., Kalckreuth, W., Watt, J.M., Corbett, A.J., Hamdalla, H.H.M., Marshall, A.G., Sutton, I., Dotti, M.T., Malandrini, A., Walker, R.H., Daniels, G., Monaco, A.P. -
Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosisAmerican Journal of Human Genetics
- Volume: 70
- Page(s): 1125-1137
- Year: 2002
Author(s): Rubio, J.P., Bahlo, M., Butzkueven, H., Van der Mei, I.A.F., Sale, M.M., Dickinson, J.L., Groom, P., Johnson, L.J., Simmons, R.D., Tait, B., Varney, M., Taylor, B., Dwyer, T., Williamson, R., Gough, N.M., Kilpatrick, T.J., Speed, T.P., Foote, S.J.Author(s): Rubio, J.P., Bahlo, M., Butzkueven, H., Van der Mei, I.A.F., Sale, M.M., Dickinson, J.L., Groom, P., Johnson, L.J., Simmons, R.D., Tait, B., Varney, M., Taylor, B., Dwyer, T., Williamson, R., Gough, N.M., Kilpatrick, T.J., Speed, T.P., Foote, S.J. -
The chorea of McLeod syndromeMovement Disorders
- Volume: 16
- Page(s): 882-889
- Year: 2001
Author(s): Danek, A., Tison, F., Rubio, J., Oechsner, M., Kalckreuth, W., Monaco, A.P.Author(s): Danek, A., Tison, F., Rubio, J., Oechsner, M., Kalckreuth, W., Monaco, A.P. -
Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosisHuman Genetics
- Volume: 114
- Page(s): 573-580
- Year: 2004
Author(s): Rubio, J.P., Bahlo, M., Tubridy, N., Stankovich, J., Burfoot, R., Butzkueven, H., Chapman, C., Johnson, L., Marriott, M., Mraz, G., Tait, B., Wilkinson, C., Taylor, B., Speed, T.P., Foote, S.J., Kilpatrick, T.J.Author(s): Rubio, J.P., Bahlo, M., Tubridy, N., Stankovich, J., Burfoot, R., Butzkueven, H., Chapman, C., Johnson, L., Marriott, M., Mraz, G., Tait, B., Wilkinson, C., Taylor, B., Speed, T.P., Foote, S.J., Kilpatrick, T.J. -
Gene expression and genotyping studies implicate the interleukin 7 receptor in the pathogenesis of primary progressive multiple sclerosisJournal of Molecular Medicine
- Volume: 83
- Page(s): 822-830
- Year: 2005
Author(s): Booth, D.R., Arthur, A.T., Teutsch, S.M., Bye, C., Rubio, J., Armati, P.J., Pollard, J.D., Heard, R.N.S., Stewart, G.J., Rubio, J., Kilpatrick, T., Butzkueven, H., Tubridy, N., Mariott, M., Chapman, C., Carey, J., Baker, J., Johnson, L., Tan, R., Foote, S., Huxtable, S., Bahlo, M., Stankovich, J., Speed, T.Author(s): Booth, D.R., Arthur, A.T., Teutsch, S.M., Bye, C., Rubio, J., Armati, P.J., Pollard, J.D., Heard, R.N.S., Stewart, G.J., Rubio, J., Kilpatrick, T., Butzkueven, H., Tubridy, N., Mariott, M., Chapman, C., Carey, J., Baker, J., Johnson, L., Tan, R., Foote, S., Huxtable, S., Bahlo, M., Stankovich, J., Speed, T. -
A conserved sorting-associated protein is mutant in chorea-acanthocytosisNature Genetics
- Volume: 28
- Page(s): 119-120
- Year: 2001
Author(s): Rampoldi, L., Dobson-Stone, C., Rubio, J.P., Danek, A., Chalmers, R.M., Wood, N.W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G.M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carrè, S., Alonso, E., Manfredi, M., Németh, A.H., Monaco, A.P.Author(s): Rampoldi, L., Dobson-Stone, C., Rubio, J.P., Danek, A., Chalmers, R.M., Wood, N.W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G.M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carrè, S., Alonso, E., Manfredi, M., Németh, A.H., Monaco, A.P. -
Chorea-acanthocytosis: Genetic linkage to chromosome 9q21American Journal of Human Genetics
- Volume: 61
- Page(s): 899-908
- Year: 1997
Author(s): Rubio, J.P., Danek, A., Stone, C., Chalmers, R., Wood, N., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G.M., Manfredi, M., Vance, J., Pericak-Vance, M., Brown, R., Rudolf, G., Picard, F., Alonso, E., Brin, M., Németh, A.H., Farrall, M., Monaco, A.P.Author(s): Rubio, J.P., Danek, A., Stone, C., Chalmers, R., Wood, N., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G.M., Manfredi, M., Vance, J., Pericak-Vance, M., Brown, R., Rudolf, G., Picard, F., Alonso, E., Brin, M., Németh, A.H., Farrall, M., Monaco, A.P. -
The var genes of Plasmodium falciparum are located in the subtelomeric region of most chromosomesEMBO Journal
- Volume: 15
- Page(s): 4069-4077
- Year: 1996
Author(s): Rubio, J.P., Thompson, J.K., Cowman, A.F.Author(s): Rubio, J.P., Thompson, J.K., Cowman, A.F. -
The current state of multiple sclerosis genetic researchAnnals of the Academy of Medicine Singapore
- Volume: 29
- Page(s): 322-330
- Year: 2000
Author(s): Rubio, J.P., Speed, T.P., Bahlo, M., Kilpatrick, T.J., Foote, S.J.Author(s): Rubio, J.P., Speed, T.P., Bahlo, M., Kilpatrick, T.J., Foote, S.J. -
The chromosomal organization of the Plasmodium falciparum var gene family is conservedMolecular and Biochemical Parasitology
- Volume: 87
- Page(s): 49-60
- Year: 1997
Author(s): Thompson, J.K., Rubio, J.P., Caruana, S., Brockman, A., Wickham, M.E., Cowman, A.F.Author(s): Thompson, J.K., Rubio, J.P., Caruana, S., Brockman, A., Wickham, M.E., Cowman, A.F. -
Genomic organization of the human Gα14 and Gαq genes and mutation analysis in chorea-acanthocytosis (CHAC)Genomics
- Volume: 57
- Page(s): 84-93
- Year: 1999
Author(s): Rubio, J.P., Levy, E.R., Dobson-Stone, C., Monaco, A.P.Author(s): Rubio, J.P., Levy, E.R., Dobson-Stone, C., Monaco, A.P. -
Plasmodium falciparum: The pfmdr2 Protein Is Not Overexpressed in Chloroquine-Resistant Isolates of the Malaria ParasiteExperimental Parasitology
- Volume: 79
- Page(s): 137-147
- Year: 1994
Author(s): Rubio, J.P., Cowman, A.F.Author(s): Rubio, J.P., Cowman, A.F. -
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK geneMovement Disorders
- Volume: 15
- Page(s): 1282-1284
- Year: 2000
Author(s): Dotti, M.T., Battisti, C., Malandrini, A., Federico, A., Rubio, J.P., Circiarello, G., Monaco, A.P.Author(s): Dotti, M.T., Battisti, C., Malandrini, A., Federico, A., Rubio, J.P., Circiarello, G., Monaco, A.P. -
A YAC contig map of Plasmodium falciparum chromosome 4: characterization of a DNA amplification between two recently separated isolatesGenomics
- Volume: 26
- Page(s): 192-198
- Year: 1995
Author(s): Rubio, J.P., Triglia, T., Kemp, D.J., de Bruin, D., Ravetch, J.V., Cowman, A.F.Author(s): Rubio, J.P., Triglia, T., Kemp, D.J., de Bruin, D., Ravetch, J.V., Cowman, A.F. -
Current status of the Plasmodium falciparum genome projectMolecular and Biochemical Parasitology
- Volume: 79
- Page(s): 1-12
- Year: 1996
Author(s): Dame, J.B., Arnot, D.E., Bourke, P.F., Chakrabarti, D., Christodoulou, Z., Coppel, R.L., Cowman, A.F., Craig, A.G., Fischer, K., Foster, J., Goodman, N., Hinterberg, K., Holder, A.A., Holt, D.C., Kemp, D.J., Lanzer, M., Lim, A., Newbold, C.I., Ravetch, J.V., Reddy, G.R., Rubio, J., Schuster, S.M., Su, X.-Z., Thompson, J.K., Vital, F., Wellems, T.E., Werner, E.B.Author(s): Dame, J.B., Arnot, D.E., Bourke, P.F., Chakrabarti, D., Christodoulou, Z., Coppel, R.L., Cowman, A.F., Craig, A.G., Fischer, K., Foster, J., Goodman, N., Hinterberg, K., Holder, A.A., Holt, D.C., Kemp, D.J., Lanzer, M., Lim, A., Newbold, C.I., Ravetch, J.V., Reddy, G.R., Rubio, J., Schuster, S.M., Su, X.-Z., Thompson, J.K., Vital, F., Wellems, T.E., Werner, E.B. -
The ATP-binding cassette (ABC) gene family of Plasmodium falciparumParasitology Today
- Volume: 12
- Page(s): 135-140
- Year: 1996
Author(s): Rubio, J.P., Cowman, A.F.Author(s): Rubio, J.P., Cowman, A.F.
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