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ADGRV1 is implicated in myoclonic epilepsy

Epilepsia (Copenhagen), 2018-02, Vol.59 (2), p.381-388

2018

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Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy

The Journal of pediatrics, 2013, Vol.162 (1), p.155-159

2013

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Population screening and cascade testing for carriers of SMA

European journal of human genetics : EJHG, 2007-07, Vol.15 (7), p.759-766

2007

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Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia

Genes, 2016-09, Vol.7 (9), p.68

2016

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EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

European journal of human genetics : EJHG, 2023-09, Vol.31 (9), p.1003-1009

2023

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A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging: linking genotype with fibrotic phenotype

European heart journal cardiovascular imaging, 2014-10, Vol.15 (10), p.1108-1116

2014

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A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation

Gastroenterology (New York, N.Y. 1943), 2002-03, Vol.122 (3), p.646-651

2002

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Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)

Human mutation, 2006-04, Vol.27 (4), p.388-388

2006

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Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68

Genes, 2017-01, Vol.8 (2), p.47

2017

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A functional neo-centromere formed through activation of a latent human centromere and consisting of non-alpha-satellite DNA

Nature genetics, 1997-06, Vol.16 (2), p.144-153

1997

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Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH

Gastroenterology (New York, N.Y. 1943), 2006-07, Vol.131 (1), p.30-39

2006

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Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics

Archives of pathology & laboratory medicine (1976), 2013-07, Vol.137 (7), p.983-988

2013

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Identification of APC gene mutations in colorectal cancer using universal microarray‐based combinatorial sequencing‐by‐hybridization

Human mutation, 2004-09, Vol.24 (3), p.261-271

2004

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234. Early onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

Journal of clinical neuroscience, 2009-03, Vol.16 (3), p.479-480

2009

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Population‐based genetic carrier screening for cystic fibrosis in Victoria

Medical journal of Australia, 2014-03, Vol.200 (4), p.205-206

2014

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Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)

Human mutation, 2006-04, Vol.27 (4), p.388-388

2006

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APC gene and familial adenomatous polyposis

Journal of gastroenterology and hepatology, 2004-05, Vol.19 (5), p.598-598

Du Sart, Desirée

2004

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Suggested actions from the Melbourne HVP Information Seminar

Nature precedings, 2008-04

2008

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Identification and characterisation of a novel gene for cardiomyopathy

Pathology, 2014, Vol.46, p.S91-S92

2014

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Dentatorubral‐pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent

American journal of medical genetics. Part A, 2005-07, Vol.136A (2), p.201-204

2005

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Mass-spectrometry in dna diagnostics

Pathology, 2010, Vol.42, p.S31-S31

2010

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Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia

Prenatal diagnosis, 2003-10, Vol.23 (10), p.861-863

2003

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Early-onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

Clinical neurophysiology, 2008-03, Vol.119 (3), p.e20-e20

2008

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ADGRV1 is implicated in myoclonic epilepsy

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy

Population screening and cascade testing for carriers of SMA

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia

EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging: linking genotype with fibrotic phenotype

Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation

Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)

Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68

A functional neo-centromere formed through activation of a latent human centromere and consisting of non-alpha-satellite DNA

Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics

Identification of APC gene mutations in colorectal cancer using universal microarray‐based combinatorial sequencing‐by‐hybridization

234. Early onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

Population‐based genetic carrier screening for cystic fibrosis in Victoria

Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)

APC gene and familial adenomatous polyposis

Suggested actions from the Melbourne HVP Information Seminar

Identification and characterisation of a novel gene for cardiomyopathy

Dentatorubral‐pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent

Mass-spectrometry in dna diagnostics

Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia

Early-onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

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