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Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?

Epilepsia (Copenhagen), 2010-02, Vol.51 (2), p.293-296

2010

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Population‐based screening for Lynch syndrome in Western Australia

International journal of cancer, 2014-09, Vol.135 (5), p.1085-1091

2014

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Heritable DNA methylation marks associated with susceptibility to breast cancer

Nature communications, 2018-02, Vol.9 (1), p.867-12, Article 867

2018

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Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

Breast cancer research : BCR, 2006-01, Vol.8 (1), p.R12-R12

2006

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Deletion Mutations in an Australian Series of HNPCC Patients

Hereditary cancer in clinical practice, 2005-11, Vol.3 (1), p.43-47, Article 43

2005

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EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

JIMD Reports, Volume 42, 2018, Vol.42, p.19-29

2018

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Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia

Molecular genetics and metabolism, 2005-02, Vol.84 (2), p.167-171

2005

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Screening for RB1 Mutations in Tumor Tissue Using Denaturing High Performance Liquid Chromatography, Multiplex Ligation-Dependent Probe Amplification, and Loss of Heterozygosity Analysis

Pediatric and developmental pathology, 2006-01, Vol.9 (1), p.31-37

2006

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RNA-based mutation screening in hereditary nonpolyposis colorectal cancer

American journal of human genetics, 1996-10, Vol.59 (4), p.818-824

1996

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Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

Human mutation, 1999, Vol.13 (4), p.311-317

1999

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Analysis of cancer risk and BRCA1 and BRCA2mutation prevalence in the kConFab familial breast cancer resource

Breast cancer research : BCR, 2006-02, Vol.8 (1), Article R12

2006

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Identification of WASP mutations in 10 Australian families with Wiskott–Aldrich syndrome and X-linked thrombocytopenia

Pathology, 2004-06, Vol.36 (3), p.262-264

2004

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The development of phenylalanine hydroxylase in rat liver; in vivo, and in vitro studies utilizing fetal hepatocyte cultures

Differentiation (London), 1988-06, Vol.38 (1), p.42-48

1988

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Insulin antagonism of dexamethasone-induced increase or argininosuccinate synthetase and argininosuccinate lyase activities in cultured fetal rat liver

Biology of the neonate, 1977-01, Vol.31 (5-6), p.266-270

1977

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Synthesis and secretion of albumin and transferrin by foetal RAT hepatocyte cultures

Biochimica et biophysica acta, 1979-12, Vol.565 (2), p.347-355

1979

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Strong Increase of Tc of Sr2RuO4 Under Both Tensile and Compressive Strain

Science (American Association for the Advancement of Science), 2014-04, Vol.344 (6181), p.283

2014

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Gene filtering strategies for machine learning guided biomarker discovery using neonatal sepsis RNA-seq data

Frontiers in genetics, 2023-04, Vol.14, p.1158352-1158352

2023

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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Nature genetics, 2015-04, Vol.47 (4), p.373-380

2015

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Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Nature genetics, 2013-10, Vol.45 (10), p.1150-1159

2013

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Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Nature (London), 2013-01, Vol.493 (7432), p.406-410

2013

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Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?

Population‐based screening for Lynch syndrome in Western Australia

Heritable DNA methylation marks associated with susceptibility to breast cancer

Homologous recombination DNA repair defects in PALB2-associated breast cancers

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

Deletion Mutations in an Australian Series of HNPCC Patients

EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers

Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia

Screening for RB1 Mutations in Tumor Tissue Using Denaturing High Performance Liquid Chromatography, Multiplex Ligation-Dependent Probe Amplification, and Loss of Heterozygosity Analysis

RNA-based mutation screening in hereditary nonpolyposis colorectal cancer

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

Analysis of cancer risk and BRCA1 and BRCA2mutation prevalence in the kConFab familial breast cancer resource

Identification of WASP mutations in 10 Australian families with Wiskott–Aldrich syndrome and X-linked thrombocytopenia

The development of phenylalanine hydroxylase in rat liver; in vivo, and in vitro studies utilizing fetal hepatocyte cultures

Insulin antagonism of dexamethasone-induced increase or argininosuccinate synthetase and argininosuccinate lyase activities in cultured fetal rat liver

Synthesis and secretion of albumin and transferrin by foetal RAT hepatocyte cultures

Strong Increase of Tc of Sr2RuO4 Under Both Tensile and Compressive Strain

Gene filtering strategies for machine learning guided biomarker discovery using neonatal sepsis RNA-seq data

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Bayesian refinement of association signals for 14 loci in 3 common diseases

Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

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