A. George

发表

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

I. Simonic, H. Firth, J. Vermeesch, 2013, European journal of medical genetics.

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

D. Love, Anthony Thrush, E. Doherty, 2013, Sultan Qaboos University medical journal.

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

D. Love, A. George, J. Taylor, 2012, Genetics and molecular research : GMR.

Quality Control Considerations for Fluorescence In Situ Hybridisation of Paraffin-Embedded Pathology Specimens in a Diagnostic Laboratory Environment

D. Love, Liangtao Zhang, A. George, 2012 .

Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

S. Aftimos, D. Love, D. Eyrolle-Guignot, 2011, Case reports in genetics.

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

D. Love, Liangtao Zhang, A. George, 2015, Journal of clinical medicine research.

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

S. Aftimos, D. Love, A. George, 2013, Sultan Qaboos University medical journal.

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

D. Love, I. Hayes, A. George, 2011, Molecular Syndromology.

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

D. Love, N. Gregersen, E. Doherty, 2013, Molecular medicine reports.

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

Warwick Smith, D. Love, I. Hayes, 2015, Case reports in genetics.

Microduplication of 3p26.3 Implicated in Cognitive Development

D. Love, Liangtao Zhang, A. George, 2014, Case reports in genetics.

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

D. Love, R. Gong, A. George, 2015 .

A Rare Chromosome 3 Imbalance and Its Clinical Implications

D. Love, I. Hayes, A. George, 2012, Case reports in pediatrics.

Chromosome microarray analysis in a clinical environment: new perspective and new challenge

S. Aftimos, D. Love, I. Hayes, 2011, British journal of biomedical science.

Chimerism detected in fraternal twins using ABI AmpFlSTR® Identifiler

S. Aftimos, D. Love, E. Doherty, 2009 .

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

S. Aftimos, D. Love, N. Gregersen, 2013, Sultan Qaboos University medical journal.

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

D. Love, A. George, Juliet Taylor, 2014, Case reports in genetics.

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

S. Aftimos, D. Love, J. Love, 2012, Case reports in pediatrics.

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

Renate Marquis-Nicholson, Donald R Love, S. Aftimos, 2010, The New Zealand medical journal.

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

Donald R. Love, S. Aftimos, D. Love, 2012, Case reports in genetics.

Array Comparative Genomic Hybridization Identifies a Heterozygous Deletion of the Entire KCNJ2 Gene as a Cause of Sudden Cardiac Death

J. Skinner, D. Love, D. Prosser, 2014, Circulation. Cardiovascular genetics.

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

D. Love, I. Hayes, A. George, 2011, Case reports in genetics.

Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes

D. Love, N. Gregersen, A. George, 2013, Case reports in genetics.

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

S. Aftimos, D. Love, E. Doherty, 2010, Genetics and molecular research : GMR.

Prenatal diagnosis of partial tetrasomy 14: a case study

A. George, L. Hallam, P. Oei, 2002, Prenatal diagnosis.

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

D. Love, A. George, Karen L. Sheath, 2016, Molecular Cytogenetics.

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

R. Lea, T. Bird, S. Mossman, 2013, Journal of Neurology.

Interstitial deletion of 10q23.1 and confirmation of three 10qdel syndromes.

S. Aftimos, D. Love, A. George, 2011, Singapore medical journal.

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

D. Love, Callum Wilson, Ivone U S Leong, 2015, Microarrays.

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

S. Robertson, D. Love, A. George, 2014, Case reports in genetics.

Prospective ranking of the sonographic markers for aneuploidy: Data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound

M. Pertile, R. Ogle, N. Athayde, 2003, The Australian & New Zealand journal of obstetrics & gynaecology.

False‐positive diagnosis of trisomy 21 using fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells

I. Winship, A. George, P. Oei, 2003, Prenatal diagnosis.

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

S. Aftimos, D. Love, J. Love, 2011, Gene.