Committed to Excellence | Kia Tu Tika

Diagnostic Genetics

2016

Detection of sudden death syndromes in New Zealand. (external link)

  • Journal New Zealand Medical Journal 2016; 129(1445): 67-74.
  • Authors Earle N, Crawford J, Gibson K, Love D, Hayes I, Neas K, Stiles M, Graham M, Donoghue T, Aitken A, Skinner JR

Fragile X syndrome testing and the limitations associated with current maternal cell contamination testing strategies (external link)

  • Journal British Journal of Medicine and Medical Sciences 2016; 17(11): 1-7
  • Authors Dryland PA, Damhuis A, Rosendale DI, Hughes K, Doherty E and Love DR

Sudden cardiac death in the young: results from a prospective population-based bi-national registry. (external link)

  • Journal NEJM 2016; 374: 2441-2452.
  • Authors Bagnall RD, Weintraub R, , Ingles J,  Duflou J, Yeates L, Lam L, Davis A, Thompson T, Connell V, Wallace J, Naylor C, Crawford J, Love DR, Hallam L, White J, Lawrence C, Lynch M, Morgan N, James P, Du Sart D, Puranik R, Langlois N, Vohra J, Winship I, Atherton J, McGaughran J, Skinner JR and Semsarian C.

Two novel GLDC mutations in a neonate with nonketotic hyperglycinemia (external link)

  • Journal J Pediatric Genetics 2016; 5(3): 174-180
  • Authors Nickerson S, Balasubramaniam S, Dryland PA, Love JM, Kava M, Love DR and Prosser DO

Evaluation of bioinformatic programmes for the analysis of variants within splice site consensus regions (external link)

  • Journal Advances in Bioinformatics 2016; 2016: 5614058
  • Authors Tang L, Prosser DO and Love DR

Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients (external link)

  • Journal Molecular Cytogenetics 2016; 9: 29
  • Authors Mc Cormack A, Claxton K, Ashton F, Mazzaschi R, Atack E, Moverley P, Qorri M, O’Connor R, Asquith P, Sheath K, Love DR and George AM

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 (external link)

  • Journal J Inherited Metab Dis 2016; 39(3): 409-414
  • Authors Ryder B, Knoll D, Love DR, Shepherd P, Love JM, Reed PW, de Hora M, Webster D, Glamuzina E and Wilson C.

Brain Dopamine-Serotonin Vesicular Transport Disease Presenting as a Severe Infantile Hypotonic Parkinsonian Disorder (external link)

  • Journal J Inherit Metab Dis 2016; 39(2): 305-308.
  • Authors Jacobsen JC, Wilson C, Cunningham V, Glamuzina E, Prosser DO, Love DR, Burgess T, Taylor J, Swan B, Hill R,

Analysis of BRCA gene missense variants (external link)

  •  Journal J Biomed Eng & Informatics 2016; 2(1): 91-108.
  • Authors Lai WS, Lopes RM, Doherty E, Prosser D, Tang R and Love DR

2015

Congestive myeloradiculopathy in a patient with Cowden’s Syndrome (external link)

  • Journal J Clinical Neuroscience 2015; 22(2): 431-433
  • Authors Wu TY, Willoughby E, Hutchinson DO, Brew S, McGuinness B, Lopes R, Love DR and Roxburgh RH 

The New Zealand Neuromuscular Disease Registry: rate of diagnoses confirmed by molecular testing (external link)

  • Journal J Clinical Neuroscience 2015; 22(2): 434-436
  • Authors Rodrigues M, Kidd A, Love DR and Roxburgh R

Hb Feilding [β12(A9)Thr>Pro]: A novel unstable beta globin chain variant (external link)

  • Journal Hemoglobin 2015; 39(1): 49-51
  • Authors Ghallyan N, Donald T, Broad D, Johnson S, Browett and Van de Water N.

Diagnostic screening for mutations in the BRCA1 and BRCA2 genes (external link)

  • Journal Sultan Qaboos University Medical Journal 2015; 15(1): 58-70.
  • Authors Lai S, Brookes C, Prosser DO, Lan C-C, Doherty E and Love DR.

Genetic markers of repolarization and arrhythmic events following acute coronary syndromes (external link)

  • Journal American Heart Journal 2015; 169(4): 579-586
  • Authors Earle N, Poppe KK, Pilbrow AP, Cameron VA, Troughton RW, Skinner JR, Love DR, Shelling AN, Whalley GA, Ellis CJ, Richards AM and Doughty RN

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 (external link)

  • Journal BMC Medical Genetics, 2015; 16: 34
  • Authors Leong IUS, Stuckey A, Lai D, Skinner JR and Love DR

Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene (external link)

  • Journal Upsala J Med Sci 2015, in press
  • Authors Leong IUS, Sucich J, Prosser DO, Skinner JR, Crawford JR, Higgins C and Love DR

Predictions regarding pathogenicity of sequence-detectable variants in the BRCA1 and BRCA2 genes (external link)

  • Journal Sultan Qaboos University Medical Journal 2015; 15(2): e218-e225
  • Authors Brookes C, Lai S, Doherty E and Love DR

Myotonic Dystrophy: accurately scoring the boundaries defining regions of triplet repeat mutations (external link)

  • Journal British J Medicine and Medical Research 2015; 8(8): 724-731
  • Authors Dryland P, Hughes K, Aziz A, Zhu D, Doherty E and Love DR

12q14 microdeletions: additional case series with confirmation of a macrocephaly region contributing to a Silver Russell Syndrome-like phenotype (external link)

  • Journal Case Reports in Genetics 2015; 2015: 192071.
  • Authors Mc Cormack A, Sharpe C, Gregersen N, Smith W, Hayes I, George A and Love DR

Merosin-deficient congenital muscular dystrophy: a novel homozygous mutation in the laminin-2 gene (external link)

  • Journal J Clinical Neuroscience 2015; 22: 1983-1985.
  • Authors Turner C, Mein R, Sharpe C and Love DR

The diagnosis of choriocarcinoma in molar pregnancies: a revised approach in clinical testing (external link)

  • Journal J Clin Med Res 2015; 7(12): 961-966
  • Authors Duffy L, Zhang L, Sheath K, Love DR and George AM

NOS1AP polymorphisms modify QTc interval duration but not cardiac arrest risk in hypertrophic cardiomyopathy (external link)

  • Journal J Cardiovascular Electrophysiology, in press
  • Authors Earle N, Ingles J, Bagnall RD, Gray B, Crawford J, Smith W, Shelling AN, Love DR, Semsarian C and Skinner JR

Two novel GLDC mutations in a neonate with nonketotic hyperglycinemia

  • Journal J Pediatric Genetics, in press
  • Authors Nickerson S, Balasubramaniam S, Dryland PA, Love JM, Kava M, Love DR and Prosser DO

Brain Dopamine-Serotonin Vesicular Transport Disease Presenting as a Severe Infantile Hypotonic Parkinsonian Disorder

  • Journal J Inherit Metab Dis, in press
  • Authors Jacobsen JC, Wilson C, Cunningham V, Glamuzina E, Prosser DO, Love DR, Burgess T, Taylor J, Swan B, Hill R, Robertson SP, Snell RG and Lehnert K.

Rhizomelic Chondrodysplasia Punctata, type 1 due to two different stop mutations in PEX7 diagnosed through whole exome sequencing (external link)

  • Journal Case Reports in Genetics 2015; 2015: 454526
  • Authors Jacobsen J, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Love DR, Robertson SP, Snell RG and Lehnert K

SNP analysis and whole exome sequencing: their application in the analysis of a consanguineous pedigree segregating ataxia (external link)

  • Journal Microarrays 2015; 4: 490-502.
  • Authors Nickerson S, Marquis-Nicholson R, Claxton F, Ashton F, Leong IUS, Prosser DO, Love JM, George AM, Wilson C, Gardner RJM and Love DR

A paediatric patient with AML M1 and a t(11;19)(q23;p13.1) rearrangement

  • Journal Integrative Molecular Medicine, in press
  • Authors Duffy L, Gong R, Cole N, Love DR and George AM

Analysis of BRCA gene missense variants (external link)

  • Journal J Biomed Eng & Informatics 2016; 2(1): 91-108
  • Authors Lai WS, Lopes RM, Doherty E, Prosser D, Tang R and Love DR.

2014 

A novel GLDC gene mutation in an Indian family with Nonketotic Hyperglycinemia (external link)

  • Journal J Child Neurology 2014;29(1):122-127
  • Authors Love JM, Prosser D, Love DR, Prakash CK, Dalal A and Aggarwal S

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

  • Journal Heart Rhythm 2014;11(1):76-82
  • Authors  Earle N, Han DY, Pilbrow A, Crawford J, Smith W, Shelling AN, Cameron V, Love DR and Skinner JR

Expression of a mutant kcnj2 gene transcript in zebrafish (external link)

  • Journal ISRN Molecular Biology 2014;2014:324839.
  • Authors Leong IUS, Skinner JR, Shelling AN and Love DR.

The left and right atria finally express themselves. (external link)

  • Journal Heart Rhythm 2014; 11(2): 272-273.
  • Authors  Skinner JR and Love DR

A case of 17q21.31 microduplication associated with developmental delay, microcephaly and mild dysmorphic features. (external link)

  • Journal Case Reports in Genetics 2014; 2014: 658570.
  • Authors Mc Cormack A, Taylor J, Te Weehi L, Love DR and George AM.

Microduplication of 3p26.3 implicated in cognitive development (external link)

  • Journal Case Reports in Genetics 2014; 2014: 295359.
  • Authors Te Weehi L, Maikoo R, Mc Cormack A, Mazzaschi R, Ashton F, Zhang L, George AM and Love DR

Diabetic Dead-in-Bed syndrome: a possible link to a cardiac ion channelopathy (external link)

  • Journal Case Reports in Medicine 2014; 2014: 647252.
  • Authors Skinner JR, Marquis-Nicholson R, Luangpraseuth A, Cutfield R, Crawford, J and Love DR

Array comparative genomic hybridisation identifies a deletion of the entire KCNJ2 gene as a cause of atypical Andersen-Tawil syndrome and sudden cardiac death (external link)

  • Journal Circulation-Cardiovascular Genetics 2014; 7: 17-22.
  • Authors  Marquis-Nicholson R, Prosser DO, Love JM, Zhang L, Hayes I, George A, Crawford JR, Skinner JR and Love DR

Poor clinical yield of the Long QT molecular autopsy in the Sudden Infant Death Syndrome (external link)

  • Journal Archives of Disease in Childhood 2014; 99: 635-640.
  • Authors Glengarry JM, Crawford J, Morrow PL, Stables SR, Love DR and Skinner JR

A Turner syndrome patient carrying a mosaic distal X chromosome marker (external link)

  • Journal Case Reports in Genetics 2014; 2014: 597314.
  • Authors Mazzaschi RLP, Taylor J, Roberston SP, Love DR and George AM

Application of massively parallel sequencing in the clinical diagnostic testing of inherited cardiac conditions (external link)

  • Journal Medical Sciences 2014; 2: 98-126
  • Authors Leong IUS, Skinner JR and Love DR

Genetic analysis of autoimmune type 1 diabetes mellitus in mice. 1991 (external link)

  • Journal J Immunol 2014; 193(1): 7-12
  • Authors Todd JA, Aitman TJ, Cornall RJ, Ghosh S, Hall JR, Hearne CM, Knight AM, Love JM, McAleer MA, Prins JB, Rodrigues N, Lathrop M, Pressey A, DeLarato NH, Peterson LB, Wicker LS

2013

A novel mutation in the TMEM127 gene associate with phaeochromocytoma: a case report. (external link)

  • Journal Internal Medicine Journal 2013;43(4):449-451
  • Authors Elston MS, Meyer-Rochow G, Prosser D, Love DR and Conaglen J

Array-based identification of copy number changes: simultaneous gene-focused and low resolution whole genome analysis (external link)

  • Journal Sultan Qaboos University Medical Journal 2013;13(1):69-79
  • Authors Marquis-Nicholson R, Doherty E, Thrush A, Love JM, Lan C-C, George AM and Love DR

Molecular analysis of a case of thanatophoric dysplasia reveals two de novo FGFR3 missense mutations located in cis. (external link)

  • Journal Sultan Qaboos University Medical Journal 2013;13(1):80-87
  • Authors Marquis-Nicholson R, Aftimos S and Love DR

Community detection of Long QT syndrome with a clinical registry: a practical alternative to ECG screening programs (external link)

  • Journal Heart Rhythm 2013;10(2):233-238
  • Authors Earle N, Crawford J, Smith W, Hayes W, Shelling A, Hood M, Stiles M, Maxwell F, Heaven D, Love DR and Skinner JR

Developmental delay referrals and the roles of Fragile-X testing and molecular karyotyping: a New Zealand perspective. (external link)

  • Journal Mol Med Reports 2013;7(5):1710-1714
  • Authors Doherty E, O’Connor R, Zhang A, Lim C, Love JM, Ashton F, Claxton K, Gregersen N, George AM and Love DR .

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

  • Journal Eur J Med Genet 2013;56(3):163-170
  • Authors Boudry-Labis E, Demeer B, Le Caignec C, Isidor B, Mathieu-Dramard M, Plessis G, George AM, Taylor J, Aftimos S, , Wiemer-Kruel A, Kohlhase J, Anneren G, Firth H, Simonic I, Vermeesch J, Thuresson A-C, Copin H, Love DR and Andrieux J

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

  • Journal J Neurology 2013;260(5):1286-1294
  • Authors Roxburgh R, Marquis-Nicholson R, Ashton F, George AM, Lea R, Eccles D, Mossman S, Bird T, van Gassen KL, Kamsteeg EJ and Love DR.

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 (external link)

  • Journal ISRN Neurology 2013;2013:908317
  • Authors Marquis-Nicholson R, Lai D, Lan C-C, Love JM and Love DR

Gene dosage analysis in a clinical environment: gene-targeted microarrays as the platform-of-choice (external link)

  • Journal Microarrays 2013;2(2):51-62
  • Authors Marquis-Nicholson R, Prosser D, Love JM and Love DR

Implications of a chr7q21.11 microdeletion and the role of the PCLO gene in learning difficulties. (external link)

  • Journal Sultan Qaboos University Medical Journal 2013;13(2):306-310
  • Authors Mazzaschi RLP, Ashton F, Aftimos S, Love DR and George AM

Clinical outcomes and counselling issues regarding partial trisomy of terminal Xp in a child with development delay: a case report (external link)

  • Journal Sultan Qaboos University Medical Journal 2013;13(2):311-317
  • Authors Sheath KL, Al-Murrani A, Aftimos A, George AM and Love DR

Delineation of 2q32q35 deletion phenotypes – two apparent ‘proximal’ and ‘distal’ syndromes (external link)

  • Journal Case Reports in Genetics 2013;2013:823451
  • Authors Mc Cormack A, Taylor J, Gregersen N, George AM and Love DR

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

  • Journal Mol Med Reports2013;8:650-654
  • Authors Sheath K, Duffy L, Asquith P, George AM and Love DR

Diagnostic genetics at-a-distance: Von Hippel-Lindau disease and a novel mutation (external link)

  • Journal Genetics Research International 2013;2013:189196
  • AuthorsBrookes C, Prosser DO, Love JM, Gardner RJM and Love DR

Simple repeat-primed PCR analysis of the Myotonic Dystrophy type 1 gene in a clinical diagnostics environment (external link)

  • Journal J Neurodegenerative Diseases 2013;2013:857564
  • Authors Dryland PA, Doherty E, Love JM and Love DR

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

  • Journal J Diabetes and Metabolic Disorders 2013;12(1):46
  • Authors Wheeler B, Patterson N, Prosser D, Tomlinson P, Love DR, Taylor B, Manning P 

Tumour mutation profiling with high throughput multiplexed genotyping platforms: a review of their use for guiding targeted cancer therapy (external link)

  • Journal Current Cancer Therapy Reviews 2013;9(4):236-244
  • Authors McKeage M, Shepherd P, Yozu M and Love DR

2012

Application of complementary luminescent and fluorescent imaging techniques to visualise nuclear and cytoplasmic Ca2+-signalling during the in vivo differentiation of slow muscles in zebrafish embryos under normal and dystrophic conditions (external link)

  • Journal Clinical and Experimental Pharmacology and Physiology 2012;39(1):78-86
  • Authors Webb SE, Cheung CCY, Chan CM, Love DR and Miller AL

Zebrafish dystrophin and utrophin gene expression during embryonic development (external link)

  • Journal Intl J Mol Med 2012;29(3):338-348
  • Authors Lai D, Lan C-C, Leong I and Love DR.

Effects of kiwifruit extracts on colonic gene and protein expression levels in il10 gene-deficient mice. (external link)

  • Journal Br J Nutr. 2012;108(1):113-29
  • Authors Edmunds S, Roy NC, Davey M, Cooney JM, Zhu S, Barnett M, Park Z, Love DR and Laing WA.

Molecular characterisation of bacterial community structure along the intestinal tract of zebrafish (Danio rerio): a pilot study (external link)

  • Journal ISRN Microbiology 2012;2012:590385
  • Authors Lan C-C and Love DR.

In vivo testing of microRNA-mediated gene knockdown in zebrafish (external link)

  • Journal Journal of Biomedicine and Biotechnology 2012:2012:350352
  • Authors Leong IUS, Lan C-C, Skinner JR, Shelling AN and Love DR

Recurrent transmission of a 17q12 microdeletion and a variable clinical spectrum (external link)

  • Journal Molecular Syndromology 2012;2:72-75.
  • Authors George AM, Love DR, Hayes I and Tsang R.

Association of vitamin D receptor gene polymorphisms with insulin resistance and response to vitamin D (external link)

  • Journal Metabolism 2012;61(3):293-301
  • Authors Jain R, von Hurst PR, Stonehouse W, Love DR, Higgins CM, Coad J

Microdeletions in 16p11.2 associated with developmental delay and generalized overgrowth (external link)

  • Journal Gen. & Mol Res 11(3):3133-3137
  • Authors George AM, Taylor J and Love DR.

Two missense mutations identified in venous thrombosis patients impair the inhibitory function of the protein Z dependent protease inhibitor. (external link)

  • Journal Thrombosis & Haemostasis 2012;107(5):854-863
  • Authors Young LK, Birch NP, Browett PJ, Coughlin P, Horvath AJ, van de Water N, Ockelford PA and Harper PL.

Fluorescent Function-Spacer-Lipid construct labelling allows for real-time in vivo imaging of cell migration and behaviour in zebrafish (Danio rerio). (external link)

  • Journal Journal of Fluorescence 2012;22(4):1055-1063
  • Authors Lan C-C, Blake D, Henry S and Love DR

Amino-terminal microdeletion within the CNTNAP2 gene associated with variable expressivity of speech (external link)

  • Journal Case Reports in Genetics 2012;2012:172408
  • Authors Al-Murrani A, Ashton F, Aftimos S, George AM and Love DR

Automation of a primer design and evaluation pipeline for subsequent sequencing of the coding regions of all human Refseq genes (external link)

  • Journal Bioinformation 2012;8(8):363-366
  • Authors Lai D and Love DR

The New Zealand Neuromuscular Disease Registry (external link)

  • Journal J Clinical Neuroscience, 2012;19(12):1749-1750
  • Authors Rodrigues M, Hammond-Tooke G, Kidd A, Love D, Patel R, Dawkins H, Bellgard M and Roxburgh R.

A rare chromosome 3 imbalance and its clinical implications (external link)

  • Journal Case Reports in Pediatrics 2012;2012:846564
  • Authors Sims K, Mazzaschi RLP, Payne E, Hayes I, Love DR and George AM

A novel 2.3 Mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities (external link)

  • Journal Case Reports in Pediatrics 2012;2012:459602.
  • Authors Singh S, Ashton F, Marquis-Nicholson R, Love JM, Lan C-C, Aftimos S, George A and Love DR

Portable battery-operated rapid PCR amplification of the CAG repeat region of the Huntington Disease locus (external link)

  • Journal Res J Biol 2012;2(6):191-196
  • Authors Love JM, Marquis-Nicholson R, Love RC and Love DR

Post mortem DNA: QC considerations for sequence and dosage analysis of genes implicated in Long QT syndrome (external link)

  • Journal In “Latest Research into Quality Control 2”, Chapter 18, pp.395-412, Ed. Akyar I, published by IN-TECH, ISBN 978-953-51-0868-9.
  • Authors Lai S, Lan C-C, Marquis-Nicholson R, Love JM, Doherty E and Love DR.

Quality control considerations for Fluorescence in situ hybridisation of paraffin-embedded pathology specimens in a diagnostic laboratory environment. (external link)

  • Journal In “Latest Research into Quality Control 2”, Chapter 21, pp.469-489, Ed. Akyar I, published by IN-TECH, ISBN 978-953-51-0868-9.
  • Authors Duffy L, Zhu L, Love DR and George AM

2011

Visualization, characterization and modulation of Ca2+ signaling during the development of slow muscle cells in intact zebrafish embryos. (external link)

  • Journal Int J Dev Biol 2011;55:143-152
  • Authors Cheung CY, Webb SE, Love DR and Miller AL.

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

  • Journal Heart Rhythm 2011;8(3):412-419
  • Authors Skinner JR, Crawford J, Smith W, Aitken A, Heaven D, Evans C-A, Hayes I, Neas K, Stables S, Koelmeyer T, Denmark L, Vuletic J, Maxwell F, White K, Yang T, Roden DM, Leren TP, Shelling A and Love DR.

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

  • Journal Thyroid 2011;21(3):325-326
  • Authors Kim DDW, Croxson MS, Cranshaw IM, Evans JL Marquis-Nicholson R and Love DR.

Elevated serum gastrin levels in Jervell and Lange-Neilsen syndrome: a marker of severe KCNQ1 dysfunction? (external link)

  • Journal Heart Rhythm 2011;8(4):551-554
  • Authors Rice KS, Dickinson G, Lane M , Crawford J, Chung SK, Rees M, Shelling AN, Love DR and JR Skinner.

Primer design to sequence analysis: a pipeline for a molecular genetic diagnostic laboratory (external link)

  • Journal In “Applications and Experiences of Quality Control”, Chapter 13, pp.257-272, Ed. Ivanov O, published by IN-TECH, ISBN 978-953-307-236-4.
  • Authors Doherty E, Marquis-Nicholson R, Brookes C, Love JM, Prosser D and Love DR

Kiwifruit extracts inhibit cytokine production by lipopolysaccharide-activated macrophages and intestinal epithelial cells isolated from Il10 gene deficient mice (external link)

  • Journal Cell Immunol 2011; 270(1): 70-79
  • Authors Edmunds SJ, Roy NC, Love DR and Laing WA

Citrullinaemia type I: a common mutation in the Pacific Island population. (external link)  

  • Journal J Paed Child Health, 2011;47(5):262-265
  • Authors Glamuzina E, Knoll D, Marquis-Nicholson R, Love DR and Wilson C.

Chromosome microarray analysis in a clinical environment: new perspective and new challenge. (external link)

  • Journal Br J Biomed Sci 2011;68(2):100-108
  • Authors George A, Marquis-Nicholson R, Zhang LT, Love JM, Ashton F, Aftimos S, Hayes I, Williams LC, Love DR

Interstitial deletion of 10q23.1 and confirmation of two 10qdel syndromes. (external link)

  • Journal Singapore Med J 2011;52(7):e143-146
  • Authors Singh S, Aftimos A, George A and Love DR.

A non-mosaic ring chromosome 9 in a newborn baby referred for ambiguous genitalia: a case study (external link)

  • Journal NZJMLS 2011;65(2):60-62
  • Authors Mazzaschi RLP, Love DR, George A and Aftimos S

Inheritance of a ring chromosome 21 in a couple undergoing in vitro fertilization (IVF): a case report (external link)

  • Journal Case Reports in Genetics 2011;2011:158086
  • Authors Mazzaschi RLP, Love DR, Hayes I and George A

Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes (external link)

  • Journal Gene 2011;486:37-40.
  • Authors Marquis-Nicholson R, Aftimos S, Ashton F, Stone P, MacFarlane J, Love JM, George A and Love DR

Targeted mutagenesis of zebrafish: use of zinc finger nucleases

  • Journal Birth Defects Research Part C 2011;93(3):249-255
  • Authors Leong IUS, Lai D, Lan C-C, Johnson R, Marquis-Nicholson R and Love DR.

A transient assay for recombination finds that Arabidopsis SNM1 and XRCC3 enhance non-homologous recombination (external link)

  • Journal Genetics and Molecular Research 2011;10(3):2104-2132
  • Authors Johnson RA, Hellens RP and Love DR

Disease modeling by gene targeting using microRNAs (external link)

  • Journal Methods Cell Biol 2011;105:419-436
  • Authors Lan C-C, Leong IUS, Lai D and Love DR.

Pure duplication of the distal long arm of chromosome 15 with Ebstein anomaly and clavicular anomaly (external link)

  • Journal Case Reports in Genetics 2011;2011:898706
  • Authors O’Connor R, Al-Murrani A, Mazzaschi R, Aftimos S, George A and Love DR 

2010

Distal 5q deletion with associated parietal foramina. (external link)

  • Journal Clinical Dysmorphology 2010;19: 43-47.
  • Authors Aftimos S, Asquith P, Ashton F, Vasilevski O and Love D.

The SCN5A gene in Brugada syndrome: mutations, variants, missense and nonsense. What’s a clinician to do? (external link)

  • Journal Heart Rhythm 2010;7(1):50-51.
  • Authors Skinner JR and Love DR. 

Combined QF-PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis. (external link)

  • Journal Prenat Diagn 2010;30(2):133-137.
  • Authors Donaghue C, Mann K, Docherty Z, Mazzaschi R, Fear C and Ogilvie C.

Application of Nutrigenomics in Gastrointestinal Health. (external link)

  • Journal In:Bagchi D, Bagchi M and Lau FC (Eds). Genomics, Proteomics and Metabolomics in Nutraceuticals and Functional Foods, Blackwell Publishing, USA, pp83-94.
  • Authors Ferguson LR, Baker PI and Love DR. 

Posthumous diagnosis of long QT syndrome from neonatal screening cards. (external link)

  • Journal Heart Rhythm 2010;7(4):481-486.
  • Authors Gladding P, Evans C-A, Crawford J, Vaughan A, Webster D, Neas K, Love DR, Rees M, Shelling AN and Skinner JR.

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

  • Journal Acta Paediatrica 2010;99(5):784-786.
  • Authors Andresen JH, Aftimos S, Doherty E, Love DR and Battin M. 

Identification and expression analysis of kcnh2 genes in the zebrafish. (external link)

  • Journal Biochem Biophys Res Comm 2010;396(4):817-824.
  • Authors Leong I, Skinner JR, Shelling AN and Love DR.

The clinical utility of molecular diagnostic testing for Primary Immune Deficiency Disorders: a case based review. (external link)

  • Journal Allergy, Asthma & Clinical Immunology 2010;6(1):12.
  • Authors Ameratunga R, Woon S-T, Neas K and Love DR. 

Chromosomal Microarray Analysis (CMA): a new tool in the diagnostic genetic armory. (external link)

  • Journal New Zealand Medical Journal 2010;123(1318):41-50.
  • Authors Marquis-Nicholson R, Aftimos S, Hayes I, George A and Love DR.

Zebrafish as a model for Long QT syndrome: the evidence, and the means of manipulating zebrafish gene expression. (external link)

  • Journal Acta Physiologica 2010;199(3):257-276.
  • Authors Leong I, Skinner JR, Shelling AN and Love DR.

Citrullinemia type 1: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis. (external link)

  • Journal Genetics and Mol Res 2010;9(3):1483-1489.
  • Authors Marquis-Nicholson R, Glamuzina E, Prosser D, Wilson C and Love DR.

Prenatal diagnosis of trisomy 3 mosaicism in a fetus with severe IUGR. (external link)

  • Journal Prenat Diagn 2010;30(8):803-805.
  • Authors Sheath KL, Asquith PM, Zhang L and Aftimos S. 

Applications of Quality and Risk Management tools in the New Zealand healthcare system

  • Journal Qualcon 2010
  • Authors Grigg N, Jayamaha D, Jayamaha N, Campbell-Allen N and George A. 

Molecular characterisation of der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal. (external link)

  • Journal Genetics and Mol Res 2010;9(3):1815-1823
  • Authors Ashton F, O’Connor R, Love JM, Doherty E, Aftimos S, George A and Love DR.