Joo Wook Ahn Cytogenetics Department Guy's & St Thomas' NHS Foundation Trust Biography Publications Institution JoVE Articles Joo Wook Ahn has not added a biography. If you are Joo Wook Ahn 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 Phenotypic Features in Patients with 15q11.2(BP1-BP2) Deletion: Further Delineation of an Emerging Syndrome American Journal of Medical Genetics. Part A. Aug, 2014 | Pubmed ID: 24715682 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 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 BBGRE: Brain and Body Genetic Resource Exchange Database : the Journal of Biological Databases and Curation. 2013 | Pubmed ID: 24077841 Male-biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders PloS One. 2013 | Pubmed ID: 23637818 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 Eliminaciones Raras En El Locus Neurexin 3 En Trastorno Del Espectro Autista American Journal of Human Genetics. Jan, 2012 | Pubmed ID: 22209245 Hallazgos Inesperados En Los Genes De Predisposición Al Cáncer Detectados Por Hibridación Genómica Comparativa Matriz: ¿Cuáles Son Los Problemas? Journal of Medical Genetics. Aug, 2011 | Pubmed ID: 21429933 MLPA Para La Confirmación De Los Resultados De CGH Array Y Determinación De La Herencia Molecular Cytogenetics. 2010 | Pubmed ID: 20942916 Validación Y Aplicación De Hibridación Genómica Comparativa Matriz Como Una Prueba De Primera Línea En Lugar De Cariotipo Postnatal En Caso De Desequilibrio Del Genoma Molecular Cytogenetics. 2010 | Pubmed ID: 20398301 Una Deleción 22q Proximal En La Novela Asociados Con Defectos Septales Cardiacos Y Microcefalia: Reporte De Un Caso Molecular Cytogenetics. 2009 | Pubmed ID: 19239688 El Desequilibrio Cromosómico Submicroscópica En Pacientes Con Retraso Del Desarrollo Y / O Dismorfia Se Refirió Específicamente Para La Prueba Del Cromosoma X Frágil Y El Análisis Del Cariotipo Molecular Cytogenetics. 2008 | Pubmed ID: 18471307 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 Gammaherpesvirus Lytic Gene Expression As Characterized by DNA Array Journal of Virology. Jun, 2002 | Pubmed ID: 12021358 Matriz de hibridación genómica comparada (CGH array) para la detección de número de copias genómicas variantes 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
Matriz de hibridación genómica comparada (CGH array) para la detección de número de copias genómicas variantes 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