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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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Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews

Medical journal of Australia, 2012-12, Vol.197 (11-12), p.652-654

2012

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Outcomes of a cystic fibrosis carrier testing clinic for couples

Medical journal of Australia, 2009-11, Vol.191 (9), p.499-501

2009

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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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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

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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Familial hypobetalipoproteinaemia: a rare presentation to the lipid clinic

Medical journal of Australia, 1993-08, Vol.159 (4), p.272-274

1993

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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

Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews

Outcomes of a cystic fibrosis carrier testing clinic for couples

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

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

Familial hypobetalipoproteinaemia: a rare presentation to the lipid clinic

Relation Problems in Internationally Adopted Juvenile Delinquents

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