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Deleterious GRM1 mutations in schizophrenia

PloS one, 2012-03, Vol.7 (3), p.e32849-e32849

2012

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Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters

The Journal of clinical investigation, 2008-12, Vol.118 (12), p.3881-3892

2008

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Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19

Nature genetics, 2004-09, Vol.36 (9), p.1003-1007

2004

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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 Alzheimerʼs and Parkinsonʼs diseases

Pharmacogenetics and genomics, 2005-07, Vol.15 (7), p.493-501

2005

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Choice of Statistical Tools for Outlier Removal Causes Substantial Changes in Analyte Reference Intervals in Healthy Populations

Clinical chemistry (Baltimore, Md.), 2020-12, Vol.66 (12), p.1558-1561

2020

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Genetics of inflammatory bowel disease: The state of play

Journal of gastroenterology and hepatology, 2013-05, Vol.28 (5), p.759-760

Cavanaugh, Juleen A

2013

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ATG16L1 T300A Shows Strong Associations With Disease Subgroups in a Large Australian IBD Population: Further Support for Significant Disease Heterogeneity

The American journal of gastroenterology, 2008-10, Vol.103 (10), p.2519-2526

2008

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KCNN4 Gene Variant Is Associated With Ileal Crohn's Disease in the Australian and New Zealand Population

The American journal of gastroenterology, 2010-10, Vol.105 (10), p.2209-2217

2010

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The Clinical Relevance of Compound Heterozygosity for the C282Y and H63D Substitutions in Hemochromatosis

Clinical gastroenterology and hepatology, 2006-11, Vol.4 (11), p.1403-1410

2006

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The molecular basis of neutral aminoacidurias

Pflügers Archiv, 2006-01, Vol.451 (4), p.511-517

2006

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Further evidence for allelic heterogeneity in Hartnup disorder

Human mutation, 2008-10, Vol.29 (10), p.1217-1221

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

The international journal of biochemistry & cell biology, 2008, Vol.40 (11), p.2553-2559

2008

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The IBD international genetics consortium provides further evidence for linkage to IBD4 and shows gene‐environment interaction

Inflammatory bowel diseases, 2005-01, Vol.11 (1), p.1-7

2005

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IBD international genetics consortium: International cooperation making sense of complex disease

Inflammatory bowel diseases, 2003-05, Vol.9 (3), p.190-193

Cavanaugh, Juleen A.

2003

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Persistence of the Common Hartnup Disease D173N Allele in Populations of European Origin

Annals of human genetics, 2007-11, Vol.71 (6), p.755-761

2007

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Screening for hemochromatosis in asymptomatic subjects with or without a family history

Archives of internal medicine (1960), 2006-02, Vol.166 (3), p.294

2006

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Lack of association of the CD14 promoter polymorphism −159C/T with Caucasian inflammatory bowel disease

Scandinavian journal of gastroenterology, 2005-02, Vol.40 (2), p.194-197

2005

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Genetic testing for HFE hemochromatosis in Australia: The value of testing relatives of simple heterozygotes

Journal of gastroenterology and hepatology, 2002-07, Vol.17 (7), p.800-803

2002

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The international IBD genetics consortium confirms linkage of Crohn's disease to a locus on chromosome 16 (IBD1)

Gastroenterology (New York, N.Y. 1943), 2000-04, Vol.118 (4), p.A708-A708

Cavanaugh, Juleen A.

2000

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CARD15/NOD2 Risk Alleles in the Development of Crohn's Disease in the Australian Population

Annals of human genetics, 2003-01, Vol.67 (1), p.35-41

2003

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Penetrance of HFE-related hemochromatosis in perspectiveW: Penetrance of HFE-related hemochromatosis in perspective

Hepatology (Baltimore, Md.), 2002-08, Vol.36 (2), p.500-503

2002

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Penetrance of HFE‐related hemochromatosis in perspectiveW

Hepatology (Baltimore, Md.), 2002-08, Vol.36 (2), p.500-503

2002

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Association of TNF-α-857C with Inflammatory Bowel Disease in the Australian Population

Scandinavian journal of gastroenterology, 2003, Vol.38 (5), p.533-534

2003

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Association of TNF-α-857 with IBD in the Australian population

Gastroenterology (New York, N.Y. 1943), 2003-04, Vol.124 (4), p.A368-A368

2003

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1056 Rats of iron accumulation in untreated subjects homozygous for the C282Y hemochromatosis mutation: relevance to disease penetrance

Hepatology (Baltimore, Md.), 2003, Vol.38, p.664-664

2003

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Deleterious GRM1 mutations in schizophrenia

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters

Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19

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 Alzheimerʼs and Parkinsonʼs diseases

Choice of Statistical Tools for Outlier Removal Causes Substantial Changes in Analyte Reference Intervals in Healthy Populations

Genetics of inflammatory bowel disease: The state of play

ATG16L1 T300A Shows Strong Associations With Disease Subgroups in a Large Australian IBD Population: Further Support for Significant Disease Heterogeneity

KCNN4 Gene Variant Is Associated With Ileal Crohn's Disease in the Australian and New Zealand Population

The Clinical Relevance of Compound Heterozygosity for the C282Y and H63D Substitutions in Hemochromatosis

The molecular basis of neutral aminoacidurias

Further evidence for allelic heterogeneity in Hartnup disorder

Deletion of Glu155 causes a deficiency of glutathione transferase Omega 1-1 but does not alter sensitivity to arsenic trioxide and other cytotoxic drugs

The IBD international genetics consortium provides further evidence for linkage to IBD4 and shows gene‐environment interaction

IBD international genetics consortium: International cooperation making sense of complex disease

Persistence of the Common Hartnup Disease D173N Allele in Populations of European Origin

Screening for hemochromatosis in asymptomatic subjects with or without a family history

Lack of association of the CD14 promoter polymorphism −159C/T with Caucasian inflammatory bowel disease

Genetic testing for HFE hemochromatosis in Australia: The value of testing relatives of simple heterozygotes

The international IBD genetics consortium confirms linkage of Crohn's disease to a locus on chromosome 16 (IBD1)

CARD15/NOD2 Risk Alleles in the Development of Crohn's Disease in the Australian Population

Penetrance of HFE-related hemochromatosis in perspectiveW: Penetrance of HFE-related hemochromatosis in perspective

Penetrance of HFE‐related hemochromatosis in perspectiveW

Association of TNF-α-857C with Inflammatory Bowel Disease in the Australian Population

Association of TNF-α-857 with IBD in the Australian population

1056 Rats of iron accumulation in untreated subjects homozygous for the C282Y hemochromatosis mutation: relevance to disease penetrance

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