Donald R Love

Donald R Love

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Observations on the Natural History of Camurati-Engelmann Disease.

J Bone Miner Res 2019 May 19;34(5):875-882. Epub 2019 Feb 19.

Endocrinology, Auckland City Hospital, Auckland, New Zealand.

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http://doi.wiley.com/10.1002/jbmr.3670
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http://dx.doi.org/10.1002/jbmr.3670DOI Listing
May 2019

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

Am Heart J 2019 Mar 19;209:126-130. Epub 2018 Dec 19.

Greenlane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.ahj.2018.11.013DOI Listing
March 2019

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

J Neuromuscul Dis 2018;5(3):341-352

National Institute for Stroke and Applied Neurosciences, School of Public Health and Psychosocial Studies, Faculty of Health and Environmental Studies, Auckland University of Technology, Auckland, New Zealand.

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http://dx.doi.org/10.3233/JND-170287DOI Listing
November 2018

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

Oncotarget 2017 Nov 16;8(60):101437-101451. Epub 2017 Sep 16.

Pharmacology and Clinical Pharmacology and Auckland Cancer Society Research Centre, University of Auckland, Auckland 1142, New Zealand.

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http://dx.doi.org/10.18632/oncotarget.21023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5731886PMC
November 2017

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

Med Sci (Basel) 2017 Oct 10;5(4). Epub 2017 Oct 10.

Diagnostic Genetics, LabPLUS, Auckland City Hospital, PO Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.3390/medsci5040022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753651PMC
October 2017

Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.

J Pediatr Genet 2016 Sep 15;5(3):174-80. Epub 2016 Jun 15.

Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1055/s-0036-1584358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999328PMC
September 2016

Expression of a Mutant kcnj2 Gene Transcript in Zebrafish.

ISRN Mol Biol 2013 26;2013:324839. Epub 2013 Nov 26.

School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand; Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1142, New Zealand.

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http://dx.doi.org/10.1155/2013/324839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4890933PMC
June 2016

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

Adv Bioinformatics 2016 24;2016:5614058. Epub 2016 May 24.

Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.1155/2016/5614058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4894998PMC
June 2016

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

N Engl J Med 2016 Jun;374(25):2441-52

From the Agnes Ginges Center for Molecular Cardiology, Centenary Institute, University of Sydney (R.D.B., J.I., L.Y., L.L., C.S.), Sydney Medical School, University of Sydney (R.D.B., J.I., J.D., R.P., C.S.), Department of Forensic Medicine, NSW Health Pathology (J.D.), and Department of Cardiology, Royal Prince Alfred Hospital (J.I., L.Y., R.P., C.S.), Sydney, the Department of Cardiology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne (R.G.W., A.M.D., V.C., D.S.), Departments of Pediatrics (A.M.D.) and Pathology (P.J.), University of Melbourne, Genetic Medicine, Royal Melbourne Hospital (T.T., P.J., J.V., I.W.), Department of Medicine, Royal Melbourne Hospital, University of Melbourne (J.V., I.W.), and Victorian Institute of Forensic Medicine (M.L., N.M.), Melbourne, VIC, Forensic and Scientific Services, Archerfield, QL (J.W., C.N.), University of Queensland (J.W., C.N.), and Royal Brisbane and Women's Hospital (J.A., J.M.), Brisbane, QL, Department of Forensic Pathology, PathWest, Fremantle, WA (J.W.), ACT Pathology, Canberra Hospital, Canberra, ACT (L.H.), Royal Hobart Hospital, University of Tasmania, Hobart, TAS (C.L.), and the Attorney General's Department, University of Adelaide, Adelaide, SA (N.L.) - all in Australia; and Green Lane Pediatric and Congenital Cardiac Services, Starship Children's Hospital (J.C., J.R.S.), LabPLUS, Auckland City Hospital (D.L.), and the Department of Child Health, University of Auckland (J.R.S.), Auckland, New Zealand.

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http://dx.doi.org/10.1056/NEJMoa1510687DOI Listing
June 2016

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

Ups J Med Sci 2015 2;120(3):190-7. Epub 2015 Apr 2.

Diagnostic Genetics, LabPLUS, Auckland City Hospital , PO Box 110031, Auckland 1142 , New Zealand.

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http://dx.doi.org/10.3109/03009734.2015.1029101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526874PMC
May 2016

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

J Inherit Metab Dis 2016 Mar 26;39(2):305-8. Epub 2015 Oct 26.

Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1007/s10545-015-9897-6DOI Listing
March 2016

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

J Clin Neurosci 2015 Dec 4;22(12):1983-5. Epub 2015 Aug 4.

Diagnostic Genetics, LabPLUS, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.jocn.2015.04.016DOI Listing
December 2015

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

J Cardiovasc Electrophysiol 2015 Dec 13;26(12):1346-51. Epub 2015 Oct 13.

Greenlane Paediatric and Congenital Cardiac Services, Starship Childrens Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1111/jce.12827DOI Listing
December 2015

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

J Clin Med Res 2015 Dec 23;7(12):961-6. Epub 2015 Oct 23.

Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.14740/jocmr2236wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4625817PMC
December 2015

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

J Neurodegener Dis 2013 11;2013:857564. Epub 2013 Nov 11.

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand ; School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand.

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https://www.hindawi.com/archive/2013/857564/
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http://dx.doi.org/10.1155/2013/857564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437349PMC
August 2015

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

Case Rep Genet 2015 22;2015:192071. Epub 2015 Jul 22.

Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://www.hindawi.com/journals/crig/2015/192071/
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http://dx.doi.org/10.1155/2015/192071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4525753PMC
August 2015

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

Sultan Qaboos Univ Med J 2015 May 28;15(2):e218-25. Epub 2015 May 28.

Department of Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450785PMC
May 2015

Congestive myeloradiculopathy in a patient with Cowden syndrome.

J Clin Neurosci 2015 Feb 7;22(2):431-3. Epub 2014 Oct 7.

Department of Neurology, Auckland City Hospital, Grafton Road, Auckland, New Zealand; Centre for Brain Research, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.jocn.2014.07.023DOI Listing
February 2015

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

J Clin Neurosci 2015 Feb 19;22(2):434-6. Epub 2014 Oct 19.

Neurology Department, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand; Centre for Brain Research, University of Auckland, Auckland, New Zealand.

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https://linkinghub.elsevier.com/retrieve/pii/S09675868140050
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http://dx.doi.org/10.1016/j.jocn.2014.06.096DOI Listing
February 2015

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes.

Sultan Qaboos Univ Med J 2015 Feb 21;15(1):e58-70. Epub 2015 Jan 21.

Department of Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318608PMC
February 2015

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

Case Rep Med 2014 19;2014:647252. Epub 2014 Feb 19.

Cardiac Inherited Disease Group, Auckland City Hospital, Auckland 1148, New Zealand ; Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland 1148, New Zealand ; School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand.

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http://dx.doi.org/10.1155/2014/647252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970469PMC
April 2014

Microduplication of 3p26.3 implicated in cognitive development.

Case Rep Genet 2014 13;2014:295359. Epub 2014 Feb 13.

Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand ; School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand.

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http://dx.doi.org/10.1155/2014/295359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978399PMC
April 2014

A turner syndrome patient carrying a mosaic distal x chromosome marker.

Case Rep Genet 2014 17;2014:597314. Epub 2014 Mar 17.

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.1155/2014/597314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977098PMC
April 2014

The left and right atria finally express themselves.

Heart Rhythm 2014 Feb 14;11(2):272-3. Epub 2013 Nov 14.

Green Lane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand; Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland, New Zealand; School of Biological Sciences, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.hrthm.2013.11.010DOI Listing
February 2014

A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.

J Child Neurol 2014 Jan 24;29(1):122-7. Epub 2013 Jan 24.

1Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1177/0883073812471432DOI Listing
January 2014

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

Heart Rhythm 2014 Jan 3;11(1):76-82. Epub 2013 Oct 3.

Greenlane Paediatric and Congenital Cardiac Services, Starship Childrens Hospital, Auckland, New Zealand. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15475271130114
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http://dx.doi.org/10.1016/j.hrthm.2013.10.005DOI Listing
January 2014

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

J Diabetes Metab Disord 2013 Dec 19;12(1):46. Epub 2013 Dec 19.

Department of Women's and Children's Health, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1186/2251-6581-12-46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915620PMC
December 2013

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

Genet Res Int 2013 26;2013:189196. Epub 2013 Aug 26.

Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.1155/2013/189196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3767047PMC
September 2013

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

Mol Med Rep 2013 Aug 13;8(2):650-4. Epub 2013 Jun 13.

Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland 1148, New Zealand.

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http://dx.doi.org/10.3892/mmr.2013.1519DOI Listing
August 2013

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

Case Rep Genet 2013 9;2013:823451. Epub 2013 Jun 9.

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.1155/2013/823451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3690635PMC
July 2013

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

ISRN Microbiol 2012 14;2012:590385. Epub 2012 Feb 14.

School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand.

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http://dx.doi.org/10.5402/2012/590385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658630PMC
June 2013

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

Mol Med Rep 2013 May 20;7(5):1710-4. Epub 2013 Mar 20.

Diagnostic Genetics, LabPlus, Auckland City Hospital, and School of Biological Sciences, University of Auckland, Auckland 1148, New Zealand.

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http://dx.doi.org/10.3892/mmr.2013.1386DOI Listing
May 2013

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

Sultan Qaboos Univ Med J 2013 May 9;13(2):306-10. Epub 2013 May 9.

Diagnostic Genetics, LabPLUS, Auckland, New Zealand.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706123PMC
May 2013

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

Microarrays (Basel) 2013 Mar 27;2(2):51-62. Epub 2013 Mar 27.

Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.3390/microarrays2020051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5003480PMC
March 2013

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

Heart Rhythm 2013 Feb 1;10(2):233-8. Epub 2012 Nov 1.

Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.hrthm.2012.10.043DOI Listing
February 2013

Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis.

Sultan Qaboos Univ Med J 2013 Feb 27;13(1):80-7. Epub 2013 Feb 27.

Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3616804PMC
February 2013

A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities.

Case Rep Pediatr 2012 13;2012:459602. Epub 2012 Nov 13.

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.1155/2012/459602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502809PMC
December 2012

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

Case Rep Genet 2011 31;2011:158086. Epub 2011 Jul 31.

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.1155/2011/158086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447255PMC
October 2012

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

Case Rep Genet 2011 13;2011:898706. Epub 2011 Nov 13.

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.1155/2011/898706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447219PMC
October 2012

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

Case Rep Genet 2012 22;2012:172408. Epub 2012 May 22.

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.1155/2012/172408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447220PMC
October 2012

A rare chromosome 3 imbalance and its clinical implications.

Case Rep Pediatr 2012 11;2012:846564. Epub 2012 Oct 11.

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.1155/2012/846564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477540PMC
October 2012

In vivo testing of microRNA-mediated gene knockdown in zebrafish.

J Biomed Biotechnol 2012 27;2012:350352. Epub 2012 Feb 27.

School of Biological Sciences, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1155/2012/350352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303736PMC
September 2012

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

J Fluoresc 2012 Jul 22;22(4):1055-63. Epub 2012 Mar 22.

School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland, 1142, New Zealand.

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http://dx.doi.org/10.1007/s10895-012-1043-3DOI Listing
July 2012

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

Bioinformation 2012 30;8(8):365-8. Epub 2012 Apr 30.

School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand.

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http://dx.doi.org/10.6026/97320630008365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3346021PMC
May 2012

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

Metabolism 2012 Mar 25;61(3):293-301. Epub 2011 Aug 25.

Molecular Genetics Research Unit, School of Applied Sciences, Auckland University of Technology, Auckland 1010, New Zealand.

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http://dx.doi.org/10.1016/j.metabol.2011.06.018DOI Listing
March 2012

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

Int J Mol Med 2012 Mar 19;29(3):338-48. Epub 2011 Dec 19.

School of Biological Sciences, University of Auckland, Auckland 1142, New Zealand.

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http://www.spandidos-publications.com/10.3892/ijmm.2011.865
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http://dx.doi.org/10.3892/ijmm.2011.865DOI Listing
March 2012

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.

Clin Exp Pharmacol Physiol 2012 Jan;39(1):78-86

Division of Life Science and Key State Laboratory of Molecular Neuroscience, The Hong Kong University of Science and Technology, Clear Water Bay, Hong Kong SAR, China.

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http://dx.doi.org/10.1111/j.1440-1681.2011.05582.xDOI Listing
January 2012

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

Int J Dev Biol 2011 ;55(2):153-74

Division of Life Science and State Key Laboratory of Molecular Neuroscience, The Hong Kong University of Science and Technology, Hong Kong, PRC.

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http://www.intjdevbiol.com/paper.php?doi=103160cc
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http://dx.doi.org/10.1387/ijdb.103160ccDOI Listing
December 2011

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

Cell Immunol 2011 23;270(1):70-9. Epub 2011 Apr 23.

Food Innovation, The New Zealand Institute for Plant & Food Research Ltd, Auckland 1142, New Zealand.

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https://linkinghub.elsevier.com/retrieve/pii/S00088749110009
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http://dx.doi.org/10.1016/j.cellimm.2011.04.004DOI Listing
October 2011

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

Gene 2011 Oct 4;486(1-2):37-40. Epub 2011 Jul 4.

Diagnostic Genetics, LabPlus, Auckland City Hospital, New Zealand.

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http://dx.doi.org/10.1016/j.gene.2011.06.028DOI Listing
October 2011

Targeted mutagenesis of zebrafish: use of zinc finger nucleases.

Birth Defects Res C Embryo Today 2011 Sep;93(3):249-55

Molecular, Cellular and Developmental Biology Research Section, School of Biological Sciences, University of Auckland, Private Bag, Auckland, New Zealand.

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http://doi.wiley.com/10.1002/bdrc.20213
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http://dx.doi.org/10.1002/bdrc.20213DOI Listing
September 2011

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

J Paediatr Child Health 2011 May 18;47(5):262-5. Epub 2011 Jan 18.

Paediatric Metabolic Service, Starship Children's Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1111/j.1440-1754.2010.01948.xDOI Listing
May 2011

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

Heart Rhythm 2011 Apr 30;8(4):551-4. Epub 2010 Nov 30.

Green Lane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.hrthm.2010.11.039DOI Listing
April 2011

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

N Z Med J 2010 Jul 16;123(1318):50-61. Epub 2010 Jul 16.

LabPlus, Auckland City Hospital, Auckland, New Zealand.

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July 2010

Identification and expression analysis of kcnh2 genes in the zebrafish.

Biochem Biophys Res Commun 2010 Jun 11;396(4):817-24. Epub 2010 May 11.

School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland Mail Centre, Auckland 1142, New Zealand.

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http://dx.doi.org/10.1016/j.bbrc.2010.04.157DOI Listing
June 2010

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

Allergy Asthma Clin Immunol 2010 Jun 8;6(1):12. Epub 2010 Jun 8.

Department of Clinical Immunology Auckland City Hospital, Park Rd, Grafton, Auckland New Zealand.

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http://aacijournal.biomedcentral.com/articles/10.1186/1710-1
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http://dx.doi.org/10.1186/1710-1492-6-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903612PMC
June 2010

Distal 5q deletion with associated parietal foramina.

Clin Dysmorphol 2010 Jan;19(1):43-7

Northern Regional Genetic Service, Auckland City Hospital, Auckland 1142, New Zealand.

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http://dx.doi.org/10.1097/MCD.0b013e3283345596DOI Listing
January 2010

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

Cancer Lett 2009 Nov 2;285(2):157-65. Epub 2009 Jun 2.

Department of Obstetrics and Gynaecology, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.canlet.2009.05.010DOI Listing
November 2009

Role of gut microbiota in Crohn's disease.

Expert Rev Gastroenterol Hepatol 2009 Oct;3(5):535-46

National Centre for Epidemiology and Population Health, The Australian National University, Canberra, ACT 0200, Australia.

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http://dx.doi.org/10.1586/egh.09.47DOI Listing
October 2009

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

Cold Spring Harb Protoc 2009 Oct;2009(10):pdb.prot5314

School of Biological Sciences, The University of Auckland, Auckland 1142, New Zealand.

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http://dx.doi.org/10.1101/pdb.prot5314DOI Listing
October 2009

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

Heart Rhythm 2008 Sep 4;5(9):1275-81. Epub 2008 Jun 4.

Cardiac Inherited Diseases Group (CIDG), Auckland City Hospital/Starship Children's Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.hrthm.2008.05.033DOI Listing
September 2008

Zebrafish: at the nexus of functional and chemical genomics.

Biotechnol Genet Eng Rev 2006 ;22:77-99

School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1001, New Zealand.

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August 2008

Microarrays--analysis of signaling pathways.

Methods Mol Med 2008 ;141:115-30

Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.

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June 2008

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

Expert Opin Drug Discov 2007 Oct;2(10):1389-401

University of Auckland, School of Biological Sciences, Private Bag 92019, Auckland Mail Centre, Auckland 1142, New Zealand +64 9 3737599 ; ext: 87228; +64 9 3737417 ;

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http://www.tandfonline.com/doi/full/10.1517/17460441.2.10.13
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http://dx.doi.org/10.1517/17460441.2.10.1389DOI Listing
October 2007

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

Acta Biochim Biophys Sin (Shanghai) 2007 May;39(5):384-90

School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand.

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http://dx.doi.org/10.1111/j.1745-7270.2007.00283.xDOI Listing
May 2007

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

Expert Rev Mol Diagn 2007 Mar;7(2):177-93

University of Auckland, School of Biological Sciences, Private Bag 92019, Auckland Mail Centre, Auckland 1142, New Zealand.

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http://www.tandfonline.com/doi/full/10.1586/14737159.7.2.177
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http://dx.doi.org/10.1586/14737159.7.2.177DOI Listing
March 2007

Modeling human disease by gene targeting.

Methods Cell Biol 2004 ;76:593-612

Molecular Genetics and Development Group, School of Biological Sciences, University of Auckland, Auckland 1001, New Zealand.

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http://dx.doi.org/10.1016/s0091-679x(04)76027-6DOI Listing
March 2005

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

Curr Opin Biotechnol 2004 Dec;15(6):564-71

School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1001, New Zealand.

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http://dx.doi.org/10.1016/j.copbio.2004.09.004DOI Listing
December 2004

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

Drug Discov Today Technol 2004 Oct;1(2):79-84

Level 2, School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand. Electronic

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http://eanimal.snu.ac.kr/Aboutus/seminar/7.20.%20%EC%8A%B9%E
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http://dx.doi.org/10.1016/j.ddtec.2004.06.005DOI Listing
October 2004

Short interfering RNA-mediated gene targeting in the zebrafish.

FEBS Lett 2004 Mar;561(1-3):89-93

Molecular Genetics and Development Group, School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand.

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http://dx.doi.org/10.1016/S0014-5793(04)00129-2DOI Listing
March 2004

Chemical discovery and global gene expression analysis in zebrafish.

Nat Biotechnol 2003 Aug;21(8):879-83

Molecular Genetics and Development Group, School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand.

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http://dx.doi.org/10.1038/nbt852DOI Listing
August 2003

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

Biochem Biophys Res Commun 2003 Apr;303(2):488-95

Molecular Genetics and Development Group, School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand.

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http://dx.doi.org/10.1016/s0006-291x(03)00355-3DOI Listing
April 2003