Joo Wook Ahn

Cytogenetics Department, Guy's & St Thomas' NHS Foundation Trust

Affiliated withGuy's & St Thomas' NHS Foundation Trust

Research Area

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 7	2015

Other Publications

Article	Year
Gammaherpesvirus lytic gene expression as characterized by DNA array. Journal of virology\| PubMed ID: 12021358	2002
Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre. BMC medical genetics\| PubMed ID: 17338807	2007
Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis. Molecular cytogenetics\| PubMed ID: 18471307	2008
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report. Molecular cytogenetics\| PubMed ID: 19239688	2009
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance. Molecular cytogenetics\| PubMed ID: 20398301	2010
MLPA for confirmation of array CGH results and determination of inheritance. Molecular cytogenetics\| PubMed ID: 20942916	2010
Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues? Journal of medical genetics\| PubMed ID: 21429933	2011
Rare deletions at the neurexin 3 locus in autism spectrum disorder. American journal of human genetics\| PubMed ID: 22209245	2012
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\| PubMed ID: 23560982	2013
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. PloS one\| PubMed ID: 23637818	2013
BBGRE: brain and body genetic resource exchange. Database : the journal of biological databases and curation\| PubMed ID: 24077841	2013
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\| PubMed ID: 24381304	2014
Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome. American journal of medical genetics. Part A\| PubMed ID: 24715682	2014
A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings. PeerJ\| PubMed ID: 24795849	2014
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. Journal of neurodevelopmental disorders\| PubMed ID: 24834135	2014
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\| PubMed ID: 25408897	2013