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List of works by Don Love

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

scientific article

13q33.2 deletion: a rare cause of ambiguous genitalia in a male newborn with growth restriction

scientific article published on 25 January 2010

A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders

scientific article published on 18 January 2019

A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities ⬇️

scientific article published on November 13, 2012

A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia ⬇️

scientific article published on January 24, 2013

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes

scientific article published in 2021

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

scientific article published in June 2016

A Rare Chromosome 3 Imbalance and Its Clinical Implications ⬇️

scientific article published on October 11, 2012

A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis ⬇️

scientific article published on February 7, 2013

A Turner syndrome patient carrying a mosaic distal x chromosome marker

scientific article published on 17 March 2014

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

scientific article (publication date: November 1992)

A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features.

scientific article published on 04 February 2014

A multiple interval physical map of the pericentromeric region of human chromosome 10

scientific article published on 01 March 1994

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

scientific article

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1

scientific article published on June 1, 1995

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype

scientific journal article

A new DNA marker, D6S129, identifies a HindIII polymorphism on chromosome 6q

scientific article

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

scientific article published on 29 December 2012

A polymorphic dinucleotide repeat at the D10S141 locus

scientific article published in April 1993

A polymorphic dinucleotide repeat at the ZNF22 locus.

scientific article published in April 1993

A transient assay for recombination demonstrates that Arabidopsis SNM1 and XRCC3 enhance non-homologous recombination

scientific article published on 16 September 2011

Activin is a potent growth suppressor of epithelial ovarian cancer cells.

scientific article

Allantoin as A Biomarker of Inflammation in an Inflammatory Bowel Disease Mouse Model: NMR Analysis of Urine

scholarly article by Philippa A. Dryland et al published 3 June 2008 in The Open Bioactive Compounds Journal

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

scientific article

An autosomal transcript in skeletal muscle with homology to dystrophin

scientific article

Analysis of the TGF beta functional pathway in epithelial ovarian carcinoma

scientific article published on September 2001

Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy

scientific article published on 01 June 1991

Application of Nutrigenomics in Gastrointestinal Health

article

Application of complementary luminescent and fluorescent imaging techniques to visualize nuclear and cytoplasmic Ca²⁺ signalling during the in vivo differentiation of slow muscle cells in zebrafish embryos under normal and dystrophic conditions

scientific article published in January 2012

Array comparative genomic hybridisation: a new tool in the diagnostic genetic armoury.

scientific article published on 16 July 2010

Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene

scientific article published on 2 April 2015

Array comparative genomic hybridization identifies a heterozygous deletion of the entire KCNJ2 gene as a cause of sudden cardiac death

scientific article published on 6 January 2014

Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis.

scientific article published on 27 February 2013

Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations

scientific article published on 13 May 2015

Association of vitamin D receptor gene polymorphisms with insulin resistance and response to vitamin D.

scientific article

Automation of a primer design and evaluation pipeline for subsequent sequencing of the coding regions of all human Refseq genes ⬇️

scientific article published on April 30, 2012

Bacterial artificial chromosomes (BACs)-on-Beads™ as a diagnostic platform for the rapid aneuploidy screening of products of conception.

scientific article

Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy

scientific article

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

scientific article published on 26 October 2015

Case Report Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal ⬇️

scientific article published on September 14, 2010

Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells

scientific article

Characterization of deletions in the dystrophin gene giving mild phenotypes

scientific article published in September 1990

Chemical discovery and global gene expression analysis in zebrafish

scientific article

Citrullinaemia type I: a common mutation in the Pacific Island population

scientific article published on 18 January 2011

Clinical & genetic analysis of four patients with distal upper limb spinal muscular atrophy.

scientific article

Clinical Outcomes and Counselling Issues Regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay ⬇️

scientific article published on 09 May 2013

Cloning, sequence analysis, and expression in Escherichia coli of a gene coding for a beta-mannanase from the extremely thermophilic bacterium "Caldocellum saccharolyticum"

scientific article

Cloning, sequence analysis, and expression of genes encoding xylan-degrading enzymes from the thermophile "Caldocellum saccharolyticum"

scientific article

Community detection of long QT syndrome with a clinical registry: an alternative to ECG screening programs?

scientific article published in November 2012

Comparative semi-automated analysis of (CAG) repeats in the Huntington disease gene: use of internal standards.

scientific article published in August 1999

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

scientific article published on 21 November 2017

Compound heterozygosity at the FMR1 gene

scientific article published in January 2001

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

scientific article published on 10 July 2017

Congestive myeloradiculopathy in a patient with Cowden syndrome

scientific article published on 7 October 2014

DNA amplification of a further exon of Duchenne muscular dystrophy locus increase possibilities for deletion screening

scientific article published on June 1989

DNA-based diagnostics for adrenoleukodystrophy in a large New Zealand family

scientific article published on 01 August 1996

Decreased neuronal nitric oxide synthase messenger RNA and somatostatin messenger RNA in the striatum of Huntington's disease

scientific article published in June 1996

Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.

scientific article published on 9 June 2013

Design, normalization, and analysis of spotted microarray data

scientific article

Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.

scientific article published on January 2001

Detection of sudden death syndromes in New Zealand

scientific article published on 18 November 2016

Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines

scientific article published on 01 November 2019

Development of a cardiac inherited disease service and clinical registry: A 15-year perspective

scientific article published on 19 December 2018

Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: A New Zealand perspective ⬇️

scientific article published on March 20, 2013

Diabetic Dead-in-Bed Syndrome: A Possible Link to a Cardiac Ion Channelopathy

scientific article published on 19 February 2014

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes

scientific article

Diagnostic genetics at a distance: von hippel-lindau disease and a novel mutation

scientific article published on 26 August 2013

Direct interaction between emerin and lamin A

scientific article (publication date: 27 January 2000)

Disease modeling by gene targeting using microRNAs

scientific article published in January 2011

Distal 5q deletion with associated parietal foramina

scientific article published on 01 January 2010

Distinct dystrophin mRNA species are expressed in embryonic and adult mouse skeletal muscle

scientific article published on 01 December 1988

Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy

scientific article

Duchenne muscular dystrophy: the gene and the protein

scientific article published on February 1989

Dystrophin and dystrophin-related proteins: a review of protein and RNA studies.

scientific article

Dystrophin in adult zebrafish muscle

scientific article published on 01 August 2001

EGFR Mutation Testing of non-squamous NSCLC: Impact and Uptake during Implementation of Testing Guidelines in a Population-Based Registry Cohort from Northern New Zealand

scientific article

Effects of kiwifruit extracts on colonic gene and protein expression levels in IL-10 gene-deficient mice

scientific article published on 9 December 2011

Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?

scientific article published on 30 November 2010

Erratum: Corrigendum: A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1

article

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions

scientific article published on 24 May 2016

Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27.

scientific article published in April 1991

Expression of a Mutant kcnj2 Gene Transcript in Zebrafish

scientific article

Expression of a Mutant kcnj2 Gene Transcript in Zebrafish

article

Expression of leucine genes from an extremely thermophilic bacterium in Escherichia coli

scientific article published in December 1987

Fluorescent function-spacer-lipid construct labelling allows for real-time in vivo imaging of cell migration and behaviour in zebrafish (Danio rerio).

scientific article

Frequency and genetic spectrum of maturity-onset diabetes of the young (MODY) in southern New Zealand.

scientific article published on 19 December 2013

Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice

scientific article published on 27 March 2013

Gene flow on the ice: genetic differentiation among Adélie penguin colonies around Antarctica

scientific article published in July 2001

Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2

scientific article published on 01 March 1993

Genetic markers of repolarization and arrhythmic events after acute coronary syndromes

scientific article published on 11 December 2014

Genetic testing in Polynesian Long QT Syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants

scientific article published on 27 March 2020

Genetics and potential biotechnological applications of thermophilic and extremely thermophilic micro-organisms

scientific article

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

scientific article

Global gene expression analysis in the zebrafish: the challenge and the promise

scientific article published on 01 October 2004

Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype

scientific article published on 11 April 2020

Hierarchical mutation screening protocol for the BRCA1 gene

scientific article published on 01 November 2000

Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice

scientific article published in April 1992

Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs

scientific article published in Nature

Human dystrophin gene transfer: production and expression of a functional recombinant DNA-based gene

scientific article published on November 1991

Identification and expression analysis of kcnh2 genes in the zebrafish

scientific article published on 11 May 2010

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

scientific article

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

scientific article published on December 2003

Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study

scientific article published on 27 November 2021

Impacts for Children Living with Genetic Muscle Disorders and their Parents - Findings from a Population-Based Study

scientific article published on 01 January 2018

Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay

scientific article

In vivo testing of microRNA-mediated gene knockdown in zebrafish

scientific article published on 27 February 2012

Indolent medullary thyroid cancer with a RET proto-oncogene Cys618Phe mutation presenting as sporadic unilateral pheochromocytoma in a 55-year-old Korean woman.

scientific article

Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report.

scientific article

Inhibin: A Candidate Gene for Premature Ovarian Failure

article

Inhibin: a candidate gene for premature ovarian failure

scientific article published on 01 December 2000

Kiwifruit extracts inhibit cytokine production by lipopolysaccharide-activated macrophages, and intestinal epithelial cells isolated from IL10 gene deficient mice

scientific article published on 23 April 2011

Limb girdle muscular dystrophy: use of dHPLC and direct sequencing to detect sarcoglycan gene mutations in a New Zealand cohort

scientific article published in January 2004

Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.

scientific article published in January 1991

Localisation of a dystrophin-related autosomal gene to 6q24 in man, and to mouse chromosome 10 in the region of the dystrophia muscularis (dy) locus

scientific article

Localization of the DMDL gene-encoded dystrophin-related protein using a panel of nineteen monoclonal antibodies: presence at neuromuscular junctions, in the sarcolemma of dystrophic skeletal muscle, in vascular and other smooth muscles, and in prol

scientific article published on December 1991

Localization of two new DNA markers on the linkage map of human chromosome 6q.

scientific article published on January 1992

Long QT molecular autopsy in sudden infant death syndrome.

scientific article

Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand

scientific article published on 19 April 2018

Lung cancer mutation testing: a clinical retesting study of agreement between a real-time PCR and a mass spectrometry test

scientific article published on 16 September 2017

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

scientific article

Mapping and sequencing in two intron regions of the human dystrophin gene

scientific article published on 01 January 1990

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory

scientific article published on 10 October 2017

Melanocortin-3 receptor gene variants in a Maori kindred with obesity and early onset type 2 diabetes

scientific article (publication date: October 2002)

Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene

scientific article published on 04 August 2015

Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.

scientific article published on 31 March 2016

Microarrays--analysis of signaling pathways

scientific article published in January 2008

Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.

scientific article published in September 2001

Microdeletions in 16p11.2 and 13q31.3 associated with developmental delay and generalized overgrowth ⬇️

scientific article published on September 3, 2012

Microduplication of 3p26.3 implicated in cognitive development

scientific article published on 13 February 2014

Modeling human disease by gene targeting

scientific article published on 01 January 2004

Modeling inflammatory bowel disease: the zebrafish as a way forward.

scientific article published on March 2007

Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de Novo FGFR3 Missense Mutations located in Cis ⬇️

scientific article published on February 27, 2013

Molecular Characterisation of Bacterial Community Structure along the Intestinal Tract of Zebrafish (Danio rerio): A Pilot Study ⬇️

scientific article published on February 14, 2012

Molecular analysis of Duchenne and Becker muscular dystrophies

scientific article published on July 1989

Molecular analysis of the Huntington's disease gene in New Zealand.

scientific article published on February 1996

Molecular characterization of further dystrophin gene microsatellites

scientific article published in October 1995

Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin

scientific article published on 01 March 1990

Monoclonal antibodies against the muscle-specific N-terminus of dystrophin: characterization of dystrophin in a muscular dystrophy patient with a frameshift deletion of exons 3-7.

scientific article published on July 1993

Mutations in the adrenoleukodystrophy gene

scientific article (publication date: 1997)

NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy

scientific article published on 2 September 2015

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy

scientific article published on 23 July 2019

Novel mutation in the TMEM127 gene associated with phaeochromocytoma

scientific article published in April 2013

Nucleotide sequence of a gene from Caldocellum saccharolyticum encoding for exocellulase and endocellulase activity

scientific article published on January 1989

Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability.

scientific article published on January 2000

Observations on the Natural History of Camurati-Engelmann Disease

scientific article published on 19 February 2019

Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy

scientific article published in March 2003

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

article

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.

scientific article published on 15 May 2009

Physical mapping distal to the DMD locus

scientific article published on September 1990

Posthumous diagnosis of long QT syndrome from neonatal screening cards

article

Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing

scientific article published on 28 May 2015

Primary structure of dystrophin-related protein

scientific article (publication date: 10 December 1992)

Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds

scientific article published on 9 November 2010

Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes

scientific article published on 04 July 2011

Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly

scientific article published on 13 November 2011

Quantitative real-time RT-PCR (qRT-PCR) of zebrafish transcripts: optimization of RNA extraction, quality control considerations, and data analysis

scientific article

Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum

scientific article published on 31 December 2011

Reduction in enkephalin and substance P messenger RNA in the striatum of early grade Huntington's disease: a detailed cellular in situ hybridization study

scientific article published in June 1996

Retroviral-mediated transfer of a dystrophin minigene into mdx mouse myoblasts in vitro

scientific article published on 01 January 1992

Role of gut microbiota in Crohn's disease

scientific article published on October 2009

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

scientific article published on 23 October 2015

Sarcoglycans of the zebrafish: orthology and localization to the sarcolemma and myosepta of muscle

scientific article published in April 2003

Screening for Anaplastic Lymphoma Kinase (ALK) gene rearrangements in non-small cell lung cancer (NSCLC) in New Zealand

scientific article published on 18 July 2019

Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115

scientific article

Sequence structure and expression of a cloned beta-glucosidase gene from an extreme thermophile

scientific article

Sequences of junction fragments in the deletion-prone region of the dystrophin gene

scientific article published in May 1991

Short Communication Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis ⬇️

scientific article published on August 3, 2010

Short interfering RNA-mediated gene targeting in the zebrafish.

scientific article published in March 2004

Simple Repeat-Primed PCR Analysis of the Myotonic Dystrophy Type 1 Gene in a Clinical Diagnostics Environment.

scientific article published on 11 November 2013

Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome

scientific article published on 3 October 2013

Spectrum of MODY in the south of New Zealand – including two novel mutations.

scientific article published on 3 October 2013

Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

scientific article published in July 2009

Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity

scientific article

Structure and Location of the Murine Adrenoleukodystrophy Gene

article

Targeted mutagenesis of zebrafish: Use of zinc finger nucleases ⬇️

scientific article published on September 1, 2011

Technology for high-throughput screens: the present and future using zebrafish

scientific article

The Diagnosis of Choriocarcinoma in Molar Pregnancies: A Revised Approach in Clinical Testing

scientific article

The New Zealand Neuromuscular Disease Registry

scientific article published on 19 September 2012

The New Zealand Neuromuscular Disease Registry: rate of diagnoses confirmed by molecular testing.

scientific article published on 19 October 2014

The SCN5A gene in Brugada syndrome: mutations, variants, missense and nonsense. What's a clinician to do?

scientific article published on 17 October 2009

The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review. ⬇️

scientific article

The left and right atria finally express themselves

scientific article published on 14 November 2013

The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment

scientific article published on 07 January 2016

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry

scientific article published on 27 December 2012

The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy

scientific article published on 18 September 2019

Tissue distribution of the dystrophin-related gene product and expression in the mdx and dy mouse

scientific article

Trinucleotide (CAG) repeat length is positively correlated with the degree of DNA fragmentation in Huntington's disease striatum

scientific article published in November 1998

Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia

scientific article published on 15 June 2016

Two dinucleotide repeat polymorphisms at the DMD locus

scientific article published in March 1994

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

scientific article

Validation of zebrafish (Danio rerio) reference genes for quantitative real-time RT-PCR normalization.

scientific article published in May 2007

Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

scientific article

Visualization, characterization and modulation of calcium signaling during the development of slow muscle cells in intact zebrafish embryos

scientific article published in January 2011

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

scientific article

Whole organism approaches to chemical genomics: the promising role of zebrafish (Danio rerio).

scientific article published on October 2007

Zebrafish as a model for long QT syndrome: the evidence and the means of manipulating zebrafish gene expression

scientific article published on 19 March 2010

Zebrafish dystrophin and utrophin genes: dissecting transcriptional expression during embryonic development

scientific article published on 19 December 2011

Zebrafish: at the nexus of functional and chemical genomics

scientific article published on January 2006

Zebrafish: bridging the gap between development and disease

scientific article

celB, a gene coding for a bifunctional cellulase from the extreme thermophile "Caldocellum saccharolyticum".

scientific article

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