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Tay-Sachs disease: current perspectives from Australia

Application of clinical genetics, 2015-01, Vol.8 (default), p.19-25

2015

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Ashkenazi Jewish population screening for Tay-Sachs disease: The International and Australian experience

Journal of paediatrics and child health, 2015-03, Vol.51 (3), p.271-279

2015

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Nature genetics, 2010-06, Vol.42 (6), p.486-488

2010

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High accuracy of HLA-B27 genotyping by allele-specific real-time polymerase chain reaction in a heterogeneous population compared to flow cytometry and single nucleotide polymorphism detection assays

Pathology, 2020-02, Vol.52 (2), p.256-261

2020

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A novel c.2T > C mutation of the KDM5C / JARID1C gene in one large family with X-linked intellectual disability

European journal of medical genetics, 2012-03, Vol.55 (3), p.178-184

2012

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Validation of a HLA-B15:02 screening method in the prevention of carbamazepine – Induced severe cutaneous adverse reactions

Pathology, 2016-02, Vol.48, p.S103-S103

2016

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Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program

Genetics in medicine, 2005-09, Vol.7 (7), p.484-494

2005

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HIgh accuracy of HLA-B27 genotyping by allele-specific real-time polymerase chain reaction in a heterogeneous population

Pathology, 2020-02, Vol.52, p.S45-S45

2020

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Outcomes of a cystic fibrosis carrier testing clinic for couples

Medical journal of Australia, 2010-02, Vol.192 (4), p.238-239

2010

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HLA-B27 genotyping by real-time polymerase chain reaction is superior to rs4349859 single nucleotide polymorphism detection and flow cytometry in a heterogeneous population

Pathology, 2019-02, Vol.51, p.S119-S120

2019

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The "GeneTrustee": a universal identification system that ensures privacy and confidentiality for human genetic databases

Journal of law and medicine, 2003-05, Vol.10 (4), p.506

2003

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The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews implications for the generality of U.S. population data

Cancer, 2001-07, Vol.92 (2), p.440-445

2001

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409: Efficient screening method for PINK1 gene mutations using DHPLC

Journal of clinical neuroscience, 2008-03, Vol.15 (3), p.344-344

2008

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Rapid Mutation Scanning of Genes Associated with Familial Cancer Syndromes Using Denaturing High-Performance Liquid Chromatography

Neoplasia (New York, N.Y.), 2001, Vol.3 (3), p.236-244

2001

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Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage

Journal of community genetics, 2011-12, Vol.2 (4), p.201-209

2011

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A shkenazi J ewish population screening for T ay– S achs disease: The International and A ustralian experience

Journal of paediatrics and child health, 2015-03, Vol.51 (3), p.271-279

2015

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Evaluation of markers of sample integrity for disaccharidase activity in small bowel biopsies

Pathology, 2010, Vol.42, p.S65-S65

2010

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The frequency of founder mutations in theBRCA1,BRCA2, andAPC genes in australian Ashkenazi Jews: Implications for the generality of u.s. population data

Cancer, 2001-07, Vol.92 (2), p.440-445

2001

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The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in australian Ashkenazi Jews

Cancer, 2001-07, Vol.92 (2), p.440-445

2001

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Rapid Mutation Scanning of Genes Associated with Familial Cancer Syndromes Using Denaturing High-Performance Liquid Chromatography1

Neoplasia (New York, N.Y.), 2001-05, Vol.3 (3), p.236-244

2001

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Nonenzymatic extraction of DNA from blood collected into serum separator tubes

Clinical chemistry (Baltimore, Md.), 1995-07, Vol.41 (7), p.1045-1046

1995

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The Tay‐Sachs disease prevention program in Australia: Sydney pilot study

Medical journal of Australia, 1995-09, Vol.163 (6), p.298-300

1995

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Implementation of ISO 9001 in a medical testing laboratory

Accreditation and quality assurance, 1997-03, Vol.2 (2), p.76-81

1997

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Relation Problems in Internationally Adopted Juvenile Delinquents

Upsala journal of medical sciences, 2007, Vol.112 (1), p.105-121

2007

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Tay-Sachs disease: current perspectives from Australia

Ashkenazi Jewish population screening for Tay-Sachs disease: The International and Australian experience

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

High accuracy of HLA-B27 genotyping by allele-specific real-time polymerase chain reaction in a heterogeneous population compared to flow cytometry and single nucleotide polymorphism detection assays

A novel c.2T > C mutation of the KDM5C / JARID1C gene in one large family with X-linked intellectual disability

Validation of a HLA-B15:02 screening method in the prevention of carbamazepine – Induced severe cutaneous adverse reactions

Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program

HIgh accuracy of HLA-B27 genotyping by allele-specific real-time polymerase chain reaction in a heterogeneous population

Outcomes of a cystic fibrosis carrier testing clinic for couples

HLA-B27 genotyping by real-time polymerase chain reaction is superior to rs4349859 single nucleotide polymorphism detection and flow cytometry in a heterogeneous population

The "GeneTrustee": a universal identification system that ensures privacy and confidentiality for human genetic databases

The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews implications for the generality of U.S. population data

409: Efficient screening method for PINK1 gene mutations using DHPLC

Rapid Mutation Scanning of Genes Associated with Familial Cancer Syndromes Using Denaturing High-Performance Liquid Chromatography

Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage

A shkenazi J ewish population screening for T ay– S achs disease: The International and A ustralian experience

Evaluation of markers of sample integrity for disaccharidase activity in small bowel biopsies

The frequency of founder mutations in theBRCA1,BRCA2, andAPC genes in australian Ashkenazi Jews: Implications for the generality of u.s. population data

The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in australian Ashkenazi Jews

Rapid Mutation Scanning of Genes Associated with Familial Cancer Syndromes Using Denaturing High-Performance Liquid Chromatography1

Nonenzymatic extraction of DNA from blood collected into serum separator tubes

The Tay‐Sachs disease prevention program in Australia: Sydney pilot study

Implementation of ISO 9001 in a medical testing laboratory

Relation Problems in Internationally Adopted Juvenile Delinquents

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