Joo Wook Ahn

Gammaherpesvirus lytic gene expression as characterized by DNA array.

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.

Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis.

A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.

MLPA for confirmation of array CGH results and determination of inheritance.

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

Rare deletions at the neurexin 3 locus in autism spectrum disorder.

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.

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

BBGRE: brain and body genetic resource exchange.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome.

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings.

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.

NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series - further understanding of the relevance of NRXN1 to neurodevelopmental disorders.