Caroline Mackie Ogilvie Cytogenetics Department Guy's & St Thomas' NHS Foundation Trust Biography Publications Institution JoVE Articles Caroline Mackie Ogilvie has not added a biography. If you are Caroline Mackie Ogilvie and would like to personalize this page please email our Author Liaison for assistance. Publications CHD2 Haploinsufficiency is Associated with Developmental Delay, Intellectual Disability, Epilepsy and Neurobehavioural Problems Journal of Neurodevelopmental Disorders. 2014 | Pubmed ID: 24834135 A New Direction for Prenatal Chromosome Microarray Testing: Software-targeting for Detection of Clinically Significant Chromosome Imbalance Without Equivocal Findings PeerJ. 2014 | Pubmed ID: 24795849 Disruption of the ASTN2/TRIM32 Locus at 9q33.1 is a Risk Factor in Males for Autism Spectrum Disorders, ADHD and Other Neurodevelopmental Phenotypes Human Molecular Genetics. May, 2014 | Pubmed ID: 24381304 Meiotic Outcomes of Three-way Translocations Ascertained in Cleavage-stage Embryos: Refinement of Reproductive Risks and Implications for PGD European Journal of Human Genetics : EJHG. Jun, 2014 | Pubmed ID: 24129433 NRXN1 Deletions Identified by Array Comparative Genome Hybridisation in a Clinical Case Series - Further Understanding of the Relevance of NRXN1 to Neurodevelopmental Disorders Journal of Molecular Psychiatry. 2013 | Pubmed ID: 25408897 Multicolor Banding Remains an Important Adjunct to Array CGH and Conventional Karyotyping Molecular Cytogenetics. 2013 | Pubmed ID: 24314262 Male-biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders PloS One. 2013 | Pubmed ID: 23637818 Multiple Pregnancy, Fetal Reduction and Selective Termination Reproductive Biomedicine Online. Jun, 2013 | Pubmed ID: 23602677 Array CGH As a First Line Diagnostic Test in Place of Karyotyping for Postnatal Referrals - Results from Four Years' Clinical Application for over 8,700 Patients Molecular Cytogenetics. 2013 | Pubmed ID: 23560982 Successful PGD Cycles for Mosaic Robertsonian Translocation Carriers Provide Insights into the Mechanism of Formation of the Derivative Chromosomes American Journal of Medical Genetics. Part A. Mar, 2013 | Pubmed ID: 23401053 Benefits and Drawbacks of Preimplantation Genetic Diagnosis (PGD) for Reciprocal Translocations: Lessons from a Prospective Cohort Study European Journal of Human Genetics : EJHG. Oct, 2013 | Pubmed ID: 23386032 Quantitative Fluorescence PCR Analysis of >40,000 Prenatal Samples for the Rapid Diagnosis of Trisomies 13, 18 and 21 and Monosomy X Prenatal Diagnosis. Dec, 2012 | Pubmed ID: 23097180 QF-PCR: Application, Overview and Review of the Literature Prenatal Diagnosis. Apr, 2012 | Pubmed ID: 22467160 Array Comparative Genomic Hybridization: Results from an Adult Population with Drug-resistant Epilepsy and Co-morbidities European Journal of Medical Genetics. May, 2012 | Pubmed ID: 22342432 Embryo Selection in IVF: is Polar Body Array Comparative Genomic Hybridization Accurate Enough? Human Reproduction (Oxford, England). Feb, 2012 | Pubmed ID: 22328558 Unexpected Findings in Cancer Predisposition Genes Detected by Array Comparative Genomic Hybridisation: What Are the Issues? Journal of Medical Genetics. Aug, 2011 | Pubmed ID: 21429933 Detection of Mosaicism for Genome Imbalance in a Cohort of 3,042 Clinical Cases Using an Oligonucleotide Array CGH Platform European Journal of Medical Genetics. Mar-Apr, 2011 | Pubmed ID: 21056703 MLPA for Confirmation of Array CGH Results and Determination of Inheritance Molecular Cytogenetics. 2010 | Pubmed ID: 20942916 Safety Paradigm: Genetic Evaluation of Therapeutic Grade Human Embryonic Stem Cells Journal of the Royal Society, Interface / the Royal Society. Dec, 2010 | Pubmed ID: 20826474 FISH for Pre-implantation Genetic Diagnosis Methods in Molecular Biology (Clifton, N.J.). 2010 | Pubmed ID: 20809319 QF-PCR As a Stand-alone Test for Prenatal Samples: the First 2 Years' Experience in the London Region Prenatal Diagnosis. Jun, 2010 | Pubmed ID: 20509149 Validation and Implementation of Array Comparative Genomic Hybridisation As a First Line Test in Place of Postnatal Karyotyping for Genome Imbalance Molecular Cytogenetics. 2010 | Pubmed ID: 20398301 Preimplantation Genetic Diagnosis for a Carrier of a Y;autosome Translocation Resulting in a Healthy Male Offspring Fertility and Sterility. Sep, 2010 | Pubmed ID: 20338558 Heterozygous Deletion of a 2-Mb Region Including the Dystroglycan Gene in a Patient with Mild Myopathy, Facial Hypotonia, Oral-motor Dyspraxia and White Matter Abnormalities European Journal of Human Genetics : EJHG. Jul, 2010 | Pubmed ID: 20234391 Preimplantation Genetic Haplotyping: 127 Diagnostic Cycles Demonstrating a Robust, Efficient Alternative to Direct Mutation Testing on Single Cells Reproductive Biomedicine Online. Apr, 2010 | Pubmed ID: 20144563 Separation of the PROX1 Gene from Upstream Conserved Elements in a Complex Inversion/translocation Patient with Hypoplastic Left Heart European Journal of Human Genetics : EJHG. Nov, 2009 | Pubmed ID: 19471316 A Novel Deletion in Proximal 22q Associated with Cardiac Septal Defects and Microcephaly: a Case Report Molecular Cytogenetics. 2009 | Pubmed ID: 19239688 An Evaluation of the Effectiveness of a Semi-automatic Metaphase Locating and On-screen Karyotyping System Journal of the Association of Genetic Technologists. 2008 | Pubmed ID: 20081315 The Copy Number Variant Involving Part of the Alpha7 Nicotinic Receptor Gene Contains a Polymorphic Inversion European Journal of Human Genetics : EJHG. Nov, 2008 | Pubmed ID: 18545269 Small Supernumerary Marker Chromosomes (sSMC) in Humans; Are There B Chromosomes Hidden Among Them Molecular Cytogenetics. 2008 | Pubmed ID: 18533011 Submicroscopic Chromosome Imbalance in Patients with Developmental Delay And/or Dysmorphism Referred Specifically for Fragile X Testing and Karyotype Analysis Molecular Cytogenetics. 2008 | Pubmed ID: 18471307 Fluorescence in Situ Hybridization on Single Cells. (Sex Determination and Chromosome Rearrangements) Methods in Molecular Medicine. 2007 | Pubmed ID: 17876073 Prevalence of Angelman Syndrome Amongst Referrals with Epilepsy and Developmental Delay American Journal of Medical Genetics. Part A. Sep, 2007 | Pubmed ID: 17676602 Detection of Subtelomere Imbalance Using MLPA: Validation, Development of an Analysis Protocol, and Application in a Diagnostic Centre BMC Medical Genetics. 2007 | Pubmed ID: 17338807 Analysis of a Chromosomally Mosaic Placenta to Assess the Cell Populations in Dissociated Chorionic Villi: Implications for QF-PCR Aneuploidy Testing Prenatal Diagnosis. Mar, 2007 | Pubmed ID: 17323406 Complete Discrepancy Between QF-PCR Analysis of Uncultured Villi and Karyotyping of Cultured Cells in the Prenatal Diagnosis of Trisomy 21 in Three CVS Prenatal Diagnosis. Apr, 2007 | Pubmed ID: 17286305 Determination of the Genetic Status of Cleavage-stage Human Embryos by Microsatellite Marker Analysis Following Multiple Displacement Amplification Prenatal Diagnosis. Mar, 2007 | Pubmed ID: 17262877 Preimplantation Genetic Diagnosis for Monogenic Diseases: Overview and Emerging Issues Expert Review of Molecular Diagnostics. Jan, 2007 | Pubmed ID: 17187482 Novel Deletion Variants of 9q13-q21.12 and Classical Euchromatic Variants of 9q12/qh Involve Deletion, Duplication and Triplication of Large Tracts of Segmentally Duplicated Pericentromeric Euchromatin European Journal of Human Genetics : EJHG. Jan, 2007 | Pubmed ID: 16985501 Proof of Principle and First Cases Using Preimplantation Genetic Haplotyping--a Paradigm Shift for Embryo Diagnosis Reproductive Biomedicine Online. Jul, 2006 | Pubmed ID: 16820122 Multicolor Banding Detects a Complex Three Chromosome, Seven Breakpoint Unbalanced Rearrangement in an ICSI-derived Fetus with Multiple Abnormalities American Journal of Medical Genetics. Part A. May, 2006 | Pubmed ID: 16596677 Prenatal Diagnosis Lancet. Oct, 2005 | Pubmed ID: 16198756 The Future of Prenatal Diagnosis: Rapid Testing or Full Karyotype? An Audit of Chromosome Abnormalities and Pregnancy Outcomes for Women Referred for Down's Syndrome Testing BJOG : an International Journal of Obstetrics and Gynaecology. Oct, 2005 | Pubmed ID: 16167939 Rapid Prenatal Diagnosis of Aneuploidy Using Quantitative Fluorescence-PCR (QF-PCR) The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society. Mar, 2005 | Pubmed ID: 15750003 Preimplantation Genetic Diagnosis--an Overview The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society. Mar, 2005 | Pubmed ID: 15749997 Detection of Mosaicism for Primary Trisomies in Prenatal Samples by QF-PCR and Karyotype Analysis Prenatal Diagnosis. Jan, 2005 | Pubmed ID: 15662691 Maternal Cell Contamination of Prenatal Samples Assessed by QF-PCR Genotyping Prenatal Diagnosis. Jan, 2005 | Pubmed ID: 15662689 Multiplex Ligation-dependent Probe Amplification Using a Completely Synthetic Probe Set BioTechniques. Sep, 2004 | Pubmed ID: 15470894 A New Neocentromere Locus on Chromosome 13 Resulting in Mosaic Tetrasomy for Distal 13q and an Asymmetric Phenotype American Journal of Medical Genetics. Part A. Oct, 2004 | Pubmed ID: 15378552 Preimplantation Genetic Diagnosis (PGD) for Reciprocal Translocations Prenatal Diagnosis. Jul, 2004 | Pubmed ID: 15300748 Strategies for the Rapid Prenatal Diagnosis of Chromosome Aneuploidy European Journal of Human Genetics : EJHG. Nov, 2004 | Pubmed ID: 15292918 Investigation of Chromosomal Imbalance in Human Embryos Using Comparative Genomic Hybridization Reproductive Biomedicine Online. Jun, 2004 | Pubmed ID: 15169589 A Trisomy 2 Fetus with Severe Neural Tube Defects and Other Abnormalities Clinical Dysmorphology. Jan, 2004 | Pubmed ID: 15127760 Deletion of the Distal Long Arm of Chromosome 10; is There a Characteristic Phenotype? A Report of 15 De Novo and Familial Cases American Journal of Medical Genetics. Part A. Dec, 2003 | Pubmed ID: 14598339 Class II Neocentromeres: a Putative Common Neocentromere Site in Band 4q21.2 European Journal of Human Genetics : EJHG. Oct, 2003 | Pubmed ID: 14512964 In Vivo Somatic Microsatellite Mutations Identified in Non-malignant Human Tissue Human Genetics. Dec, 2003 | Pubmed ID: 14505038 Preimplantation Genetic Diagnosis Lancet. Jul, 2003 | Pubmed ID: 12885500 Characterization of Terminal Chromosome Anomalies Using Multisubtelomere FISH American Journal of Medical Genetics. Part A. Aug, 2003 | Pubmed ID: 12884426 Prenatal Diagnosis for Chromosome Abnormalities: Past, Present and Future Pathologie-biologie. Apr, 2003 | Pubmed ID: 12781797 Development and Targeted Application of a Rapid QF-PCR Test for Sex Chromosome Imbalance Prenatal Diagnosis. Mar, 2003 | Pubmed ID: 12627420 Laboratory Diagnosis Lancet. Jan, 2003 | Pubmed ID: 12531594 Strategies and Outcomes of the First 100 Cycles of Preimplantation Genetic Diagnosis at the Guy's and St. Thomas' Center Fertility and Sterility. Jan, 2003 | Pubmed ID: 12524068 Delineation of an Estimated 6.7 MB Candidate Interval for an Anophthalmia Gene at 3q26.33-q28 and Description of the Syndrome Associated with Visible Chromosome Deletions of This Region European Journal of Human Genetics : EJHG. Dec, 2002 | Pubmed ID: 12461687 Meiotic Outcomes in Reciprocal Translocation Carriers Ascertained in 3-day Human Embryos European Journal of Human Genetics : EJHG. Dec, 2002 | Pubmed ID: 12461686 Preimplantation Genetic Diagnosis Nature Reviews. Genetics. Dec, 2002 | Pubmed ID: 12459724 Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants Joo Wook Ahn1, Michael Coldwell2, Susan Bint2, Caroline Mackie Ogilvie1 1Cytogenetics Department, Guy's & St Thomas' NHS Foundation Trust, 2Cytogenetics Department, Viapath Analytics JoVE 51718 Biology
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants Joo Wook Ahn1, Michael Coldwell2, Susan Bint2, Caroline Mackie Ogilvie1 1Cytogenetics Department, Guy's & St Thomas' NHS Foundation Trust, 2Cytogenetics Department, Viapath Analytics JoVE 51718 Biology