Deleterious GRM1 mutations in schizophrenia
Ayoub, Mohammed Akli, Angelicheva, Dora, Vile, David, Chandler, David, Morar, Bharti, Cavanaugh, Juleen A, Visscher, Peter M, Jablensky, Assen, Pfleger, Kevin D G, Kalaydjieva, Luba
Published in PloS one (20.03.2012)
Published in PloS one (20.03.2012)
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Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters
Bröer, Stefan, Bailey, Charles G, Kowalczuk, Sonja, Ng, Cynthia, Vanslambrouck, Jessica M, Rodgers, Helen, Auray-Blais, Christiane, Cavanaugh, Juleen A, Bröer, Angelika, Rasko, John E J
Published in The Journal of clinical investigation (01.12.2008)
Published in The Journal of clinical investigation (01.12.2008)
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Characterization of the monomethylarsonate reductase and dehydroascorbate reductase activities of Omega class glutathione transferase variants: implications for arsenic metabolism and the age-at-onset of Alzheimer's and Parkinson's diseases
Schmuck, Erica M, Board, Philip G, Whitbread, Astrid K, Tetlow, Natasha, Cavanaugh, Juleen A, Blackburn, Anneke C, Masoumi, Amir
Published in Pharmacogenetics and genomics (01.07.2005)
Published in Pharmacogenetics and genomics (01.07.2005)
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Choice of Statistical Tools for Outlier Removal Causes Substantial Changes in Analyte Reference Intervals in Healthy Populations
Hickman, Peter E, Koerbin, Gus, Potter, Julia M, Glasgow, Nicholas, Cavanaugh, Juleen A, Abhayaratna, Walter P, West, Nic P, Glasziou, Paul
Published in Clinical chemistry (Baltimore, Md.) (01.12.2020)
Published in Clinical chemistry (Baltimore, Md.) (01.12.2020)
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ATG16L1 T300A Shows Strong Associations With Disease Subgroups in a Large Australian IBD Population: Further Support for Significant Disease Heterogeneity
FOWLER, Elizabeth V, DOECKE, James, RADFORD-SMITH, Graham L, SIMMS, Lisa A, ZHEN ZHEN ZHAO, WEBB, Penelope M, HAYWARD, Nicholas K, WHITEMAN, David C, FLORIN, Timothy H, MONTGOMERY, Grant W, CAVANAUGH, Juleen A
Published in The American journal of gastroenterology (01.10.2008)
Published in The American journal of gastroenterology (01.10.2008)
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KCNN4 Gene Variant Is Associated With Ileal Crohn's Disease in the Australian and New Zealand Population
SIMMS, Lisa A, DOECKE, James D, CAVANAUGH, Juleen A, MCCALLUM, Ruth, FLORIN, Timothy H. J, BARCLAY, Murray L, GEARRY, Richard B, MERRIMAN, Tony R, MONTGOMERY, Grant W, RADFORD-SMITH, Graham L, ROBERTS, Rebecca L, FOWLER, Elizabeth V, ZHEN ZHEN ZHAO, MCGUCKIN, Michael A, NING HUANG, HAYWARD, Nicholas K, WEBB, Penelope M, WHITEMAN, David C
Published in The American journal of gastroenterology (01.10.2010)
Published in The American journal of gastroenterology (01.10.2010)
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The Clinical Relevance of Compound Heterozygosity for the C282Y and H63D Substitutions in Hemochromatosis
Walsh, Alissa, Dixon, Jeannette L., Ramm, Grant A., Hewett, David G., Lincoln, Douglas J., Anderson, Gregory J., Subramaniam, V. Nathan, Dodemaide, Julian, Cavanaugh, Juleen A., Bassett, Mark L., Powell, Lawrie W.
Published in Clinical gastroenterology and hepatology (01.11.2006)
Published in Clinical gastroenterology and hepatology (01.11.2006)
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The molecular basis of neutral aminoacidurias
Bröer, Angelika, Cavanaugh, Juleen A, Rasko, John E J, Bröer, Stefan
Published in Pflügers Archiv (01.01.2006)
Published in Pflügers Archiv (01.01.2006)
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Further evidence for allelic heterogeneity in Hartnup disorder
Azmanov, Dimitar N, Kowalczuk, Sonja, Rodgers, Helen, Auray-Blais, Christiane, Giguère, Robert, Rasko, John E.J, Bröer, Stefan, Cavanaugh, Juleen A
Published in Human mutation (01.10.2008)
Published in Human mutation (01.10.2008)
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Deletion of Glu155 causes a deficiency of glutathione transferase Omega 1-1 but does not alter sensitivity to arsenic trioxide and other cytotoxic drugs
Schmuck, Erica, Cappello, Jean, Coggan, Marjorie, Brew, Jenny, Cavanaugh, Juleen A., Blackburn, Anneke C., Baker, Rohan T., Eyre, Helen J., Sutherland, Grant R., Board, Philip G.
Published in The international journal of biochemistry & cell biology (2008)
Published in The international journal of biochemistry & cell biology (2008)
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The IBD international genetics consortium provides further evidence for linkage to IBD4 and shows gene‐environment interaction
Pierik, Marie, Yang, Huiying, Barmada, Michael M., Cavanaugh, Juleen A., Annese, Vito, Brant, Steven R., Cho, Judy H., Duerr, Richard H., Hugot, Jean‐Pierre, McGovern, Dermot P., Paavola‐Sakki, Paulina, Radford‐Smith, Graham L., Pavli, P., Silverberg, Mark S., Schreiber, Stephan, Taylor, Kent D., Vlietinck, Robert
Published in Inflammatory bowel diseases (01.01.2005)
Published in Inflammatory bowel diseases (01.01.2005)
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Persistence of the Common Hartnup Disease D173N Allele in Populations of European Origin
Azmanov, Dimitar N., Rodgers, Helen, Auray‐Blais, Christiane, Giguère, Robert, Bailey, Charles, Bröer, Stefan, Rasko, John E. J., Cavanaugh, Juleen A.
Published in Annals of human genetics (01.11.2007)
Published in Annals of human genetics (01.11.2007)
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Screening for hemochromatosis in asymptomatic subjects with or without a family history
Powell, Lawrie W, Dixon, Jeannette L, Ramm, Grant A, Purdie, David M, Lincoln, Douglas J, Anderson, Gregory J, Subramaniam, V Nathan, Hewett, David G, Searle, Jeffrey W, Fletcher, Linda M, Crawford, Darrell H, Rodgers, Helen, Allen, Katrina J, Cavanaugh, Juleen A, Bassett, Mark L
Published in Archives of internal medicine (1960) (13.02.2006)
Published in Archives of internal medicine (1960) (13.02.2006)
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CARD15/NOD2 Risk Alleles in the Development of Crohn's Disease in the Australian Population
Cavanaugh, J. A., Adams, K. E., Quak, E. J., Bryce, M. E., O'Callaghan, N. J., Rodgers, H. J., Magarry, G. R., Butler, W. J., Eaden, J. A., Roberts‐Thomson, I. C., Pavli, P., Wilson, S. R., Callen, D. F.
Published in Annals of human genetics (01.01.2003)
Published in Annals of human genetics (01.01.2003)
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