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Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families

Anaesthesia and intensive care, 2015-03, Vol.43 (2), p.157-166

2015

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Sequencing of genes involved in the movement of calcium across human skeletal muscle sarcoplasmic reticulum: Continuing the search for genes associated with malignant hyperthermia

Anaesthesia and intensive care, 2016-11, Vol.44 (6), p.762-768

2016

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Germline truncating mutations in both MSH2 and BRCA2 in a single kindred

British journal of cancer, 2004-01, Vol.90 (2), p.483-491

2004

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Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots

Anaesthesia and intensive care, 2008-05, Vol.36 (3), p.391-403

2008

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A Prospective Study of Sudden Cardiac Death among Children and Young Adults

The New England journal of medicine, 2016-06, Vol.374 (25), p.2441-2452

2016

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Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis

The Lancet (British edition), 2005-07, Vol.366 (9482), p.314-316

2005

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Familial adenomatous polyposis

Baillière's best practice & research. Clinical gastroenterology, 2009-04, Vol.23 (2), p.197-207

2009

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Linking Genotype and Phenotype in Hypertrophic Cardiomyopathy

Heart, lung & circulation, 2013, Vol.22, p.S57-S58

2013

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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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Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene

Journal of neurology, neurosurgery and psychiatry, 2005-12, Vol.76 (12), p.1720-1722

2005

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The relationship between neonatal immunoreactive trypsinogen, ΔF508, and IVS8-5T

Journal of medical genetics, 2000-08, Vol.37 (8), p.629-632

2000

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Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy

Brain (London, England : 1878), 2011-11, Vol.134 (11), p.3185-3197

2011

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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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Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis

Clinical genetics, 2004-05, Vol.65 (5), p.358-367

2004

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Prevalence and nature of connexin 26 mutations in children with non‐syndromic deafness

Medical journal of Australia, 2001-08, Vol.175 (4), p.191-194

2001

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Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds

American journal of human genetics, 2001-01, Vol.68 (1), p.118-127

2001

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A novel nuclear protein binds centromeric alpha satellite DNA

Human molecular genetics, 1994-05, Vol.3 (5), p.711-716

1994

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Hierarchical self-assembly of two-length-scale multiblock copolymers

Journal of physics. Condensed matter, 2011-07, Vol.23 (28), p.284110-6

2011

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Plate Positioning in Periprosthetic or Interprosthetic Femur Fractures With Stable Implants—A Biomechanical Study

The Journal of arthroplasty, 2016-12, Vol.31 (12), p.2894-2899

2016

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Poly(tert-butyl methacrylate-b-styrene-b-4-vinylpyridine) Triblock Copolymers: Synthesis, Interactions, and Self-Assembly

Macromolecules, 2008-09, Vol.41 (17), p.6393-6399

2008

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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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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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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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New polymorphic DNA marker close to the fragile site FRAXA

Genomics (San Diego, Calif.), 1990, Vol.6 (1), p.129-132

1990

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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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Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families

Sequencing of genes involved in the movement of calcium across human skeletal muscle sarcoplasmic reticulum: Continuing the search for genes associated with malignant hyperthermia

Germline truncating mutations in both MSH2 and BRCA2 in a single kindred

Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis

Familial adenomatous polyposis

Linking Genotype and Phenotype in Hypertrophic Cardiomyopathy

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

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene

The relationship between neonatal immunoreactive trypsinogen, ΔF508, and IVS8-5T

Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy

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

Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis

Prevalence and nature of connexin 26 mutations in children with non‐syndromic deafness

Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds

A novel nuclear protein binds centromeric alpha satellite DNA

Hierarchical self-assembly of two-length-scale multiblock copolymers

Plate Positioning in Periprosthetic or Interprosthetic Femur Fractures With Stable Implants—A Biomechanical Study

Poly(tert-butyl methacrylate-b-styrene-b-4-vinylpyridine) Triblock Copolymers: Synthesis, Interactions, and Self-Assembly

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

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

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

New polymorphic DNA marker close to the fragile site FRAXA

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

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