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Unified Criteria for Ultrasonographic Diagnosis of ADPKD

Journal of the American Society of Nephrology, 2009, Vol.20 (1), p.205-212

2009

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Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder

Molecular autism, 2017-12, Vol.8 (1), p.63-63, Article 63

2017

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Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2016-04, Vol.171B (3), p.458-467

2016

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Development and Validation of a Family History Screening Questionnaire in Australian Primary Care

Annals of family medicine, 2014-05, Vol.12 (3), p.241-249

2014

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Linking MECP2 and pain sensitivity: The example of Rett syndrome

American journal of medical genetics. Part A, 2010-05, Vol.152A (5), p.1197-1205

2010

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Comparison of phenotypes of polycystic kidney disease types 1 and 2

The Lancet (British edition), 1999-01, Vol.353 (9147), p.103-107

1999

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Noncitrus Fruits as Novel Dietary Environmental Modifiers of Iron Stores in People With or Without HFE Gene Mutations

Mayo Clinic proceedings, 2008-05, Vol.83 (5), p.543-549

2008

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A retrospective audit of family history records in short-stay medical admissions

Medical journal of Australia, 2010-06, Vol.192 (12), p.682-684

2010

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PKDB: Polycystic Kidney Disease Mutation Database-a gene variant database for autosomal dominant polycystic kidney disease

Human mutation, 2007-07, Vol.28 (7), p.654-659

2007

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Noncitrus Fruits as Novel Dietary Environmental Modifiers of Iron Stores in People With or Without HFE Gene Mutations

Mayo Clinic proceedings, 2008-05, Vol.83 (5), p.543-549

2008

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Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

Journal of the American Society of Nephrology, 2003-05, Vol.14 (5), p.1164-1174

2003

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Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene

American journal of human genetics, 1997-10, Vol.61 (4), p.843-851

1997

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Quality standards and samples in genetic testing

Journal of clinical pathology, 2012-05, Vol.65 (5), p.389-393

2012

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NTNG1 mutations are a rare cause of Rett syndrome

American journal of medical genetics. Part A, 2006-04, Vol.140A (7), p.691-694

2006

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Rett syndrome in Australia: A review of the epidemiology

The Journal of pediatrics, 2006-03, Vol.148 (3), p.347-352

2006

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Analysis of published PKD1 gene sequence variants

Nature genetics, 2007-04, Vol.39 (4), p.427-428

2007

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MECP2 genomic structure and function: insights from ENCODE

Nucleic acids research, 2008-11, Vol.36 (19), p.6035-6047

2008

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Location of mutations within the PKD2 gene influences clinical outcome

Kidney international, 2000-04, Vol.57 (4), p.1444-1451

2000

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Brief Report: Do the Nature of Communication Impairments in Autism Spectrum Disorders Relate to the Broader Autism Phenotype in Parents?

Journal of autism and developmental disorders, 2013-12, Vol.43 (12), p.2984-2989

2013

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Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12

Kidney international, 2001-10, Vol.60 (4), p.1233-1239

2001

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Predictors of seizure onset in Rett syndrome

The Journal of pediatrics, 2006-10, Vol.149 (4), p.542-547.e3

2006

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Are there differences in the behavioural phenotypes of Autism Spectrum Disorder probands from simplex and multiplex families?

Research in autism spectrum disorders, 2015-03, Vol.11, p.56-62

2015

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Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

Journal of medical genetics, 2007-02, Vol.44 (2), p.148-152

2007

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The impact of the medicare benefits schedule on genetic testing in hereditary breast and ovarian cancer: An audit of test request practices in Western Australia

Pathology, 2018-02, Vol.50, p.S100-S100

2018

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Seizures in Rett syndrome: An overview from a one-year calendar study

European journal of paediatric neurology, 2007-09, Vol.11 (5), p.310-317

2007

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Unified Criteria for Ultrasonographic Diagnosis of ADPKD

Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature

Development and Validation of a Family History Screening Questionnaire in Australian Primary Care

Linking MECP2 and pain sensitivity: The example of Rett syndrome

Comparison of phenotypes of polycystic kidney disease types 1 and 2

Noncitrus Fruits as Novel Dietary Environmental Modifiers of Iron Stores in People With or Without HFE Gene Mutations

A retrospective audit of family history records in short-stay medical admissions

PKDB: Polycystic Kidney Disease Mutation Database-a gene variant database for autosomal dominant polycystic kidney disease

Noncitrus Fruits as Novel Dietary Environmental Modifiers of Iron Stores in People With or Without HFE Gene Mutations

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene

Quality standards and samples in genetic testing

NTNG1 mutations are a rare cause of Rett syndrome

Rett syndrome in Australia: A review of the epidemiology

Analysis of published PKD1 gene sequence variants

MECP2 genomic structure and function: insights from ENCODE

Location of mutations within the PKD2 gene influences clinical outcome

Brief Report: Do the Nature of Communication Impairments in Autism Spectrum Disorders Relate to the Broader Autism Phenotype in Parents?

Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12

Predictors of seizure onset in Rett syndrome

Are there differences in the behavioural phenotypes of Autism Spectrum Disorder probands from simplex and multiplex families?

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

The impact of the medicare benefits schedule on genetic testing in hereditary breast and ovarian cancer: An audit of test request practices in Western Australia

Seizures in Rett syndrome: An overview from a one-year calendar study

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