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Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer

Scientific reports, 2022-05, Vol.12 (1), p.8572-8572, Article 8572

2022

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Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability

Journal of human genetics, 2022-01, Vol.67 (1), p.19-26

2022

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Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.305-308

2016

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Loss of Drosophila Coq8 results in impaired survival, locomotor deficits and photoreceptor degeneration

Molecular brain, 2022-02, Vol.15 (1), p.15-15, Article 15

2022

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Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans

Disease models & mechanisms, 2018-11, Vol.11 (11)

2018

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Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

JIMD reports, 2023-05, Vol.64 (3), p.223-232

2023

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Single nucleotide polymorphisms in the cannabinoid CB2 receptor: Molecular pharmacology and disease associations

British journal of pharmacology, 2024-08, Vol.181 (15), p.2391-2412

2024

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Single nucleotide polymorphisms in the cannabinoid CB 2 receptor: Molecular pharmacology and disease associations

British journal of pharmacology, 2024-08, Vol.181 (15), p.2391-2412

2024

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Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data

Journal of biomedical informatics, 2019-06, Vol.94, p.103174-103174, Article 103174

2019

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RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions

Scientific reports, 2019-11, Vol.9 (1), p.16934-7, Article 16934

2019

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Penetrance and expressivity of the R858H CACNA1C variant in a five‐generation pedigree segregating an arrhythmogenic channelopathy

Molecular genetics & genomic medicine, 2019-01, Vol.7 (1), p.e00476-n/a

2019

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Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington’s disease model

Human molecular genetics, 2024-05, Vol.33 (17), p.1524-1539

2024

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An ovine transgenic Huntington's disease model

Human molecular genetics, 2010-05, Vol.19 (10), p.1873-1882

2010

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Metabolic disruption identified in the Huntington’s disease transgenic sheep model

Scientific reports, 2016-02, Vol.6 (1), p.20681-20681, Article 20681

2016

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A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2

Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2350-n/a

2024

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HD CAG-correlated gene expression changes support a simple dominant gain of function

Human molecular genetics, 2011-07, Vol.20 (14), p.2846-2860

2011

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Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington's Disease

Journal of Huntington's disease, 2024-01, Vol.13 (1), p.33-40

2024

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De novo network analysis reveals autism causal genes and developmental links to co-occurring traits

Life science alliance, 2023-10, Vol.6 (10), p.e202302142

2023

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Genomic medicine must reduce, not compound, health inequities : the case for hauora-enhancing genomic resources for New Zealand

New Zealand medical journal, 2018-08, Vol.131 (1480), p.81-89

Robertson, Stephen

2018

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Potential molecular consequences of transgene integration: The R6/2 mouse example

Scientific reports, 2017-01, Vol.7 (1), p.41120-41120, Article 41120

2017

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Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

Case reports in genetics, 2015-01, Vol.2015 (2015), p.1-4

2015

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Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease

Cold Spring Harbor molecular case studies, 2017-11, Vol.3 (6), p.a001909

2017

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Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair

JIMD Reports, Volume 42, 2018, Vol.42, p.31-36

2018

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Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates

Journal of Huntington's disease, 2013, Vol.2 (3), p.279-295

2013

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Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer

Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Loss of Drosophila Coq8 results in impaired survival, locomotor deficits and photoreceptor degeneration

Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

Single nucleotide polymorphisms in the cannabinoid CB2 receptor: Molecular pharmacology and disease associations

Single nucleotide polymorphisms in the cannabinoid CB 2 receptor: Molecular pharmacology and disease associations

Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data

RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

Penetrance and expressivity of the R858H CACNA1C variant in a five‐generation pedigree segregating an arrhythmogenic channelopathy

Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington’s disease model

An ovine transgenic Huntington's disease model

Metabolic disruption identified in the Huntington’s disease transgenic sheep model

A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2

HD CAG-correlated gene expression changes support a simple dominant gain of function

Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington's Disease

De novo network analysis reveals autism causal genes and developmental links to co-occurring traits

Genomic medicine must reduce, not compound, health inequities : the case for hauora-enhancing genomic resources for New Zealand

Potential molecular consequences of transgene integration: The R6/2 mouse example

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease

Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair

Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates

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