ORCID as entered in ROS
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Select Publications
2016, 'Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum', Journal of Medical Genetics, 53, pp. 820 - 827, http://dx.doi.org/10.1136/jmedgenet-2016-103880
,2016, 'The molecular and phenotypic spectrum of IQSEC2-related epilepsy', Epilepsia, 57, pp. 1858 - 1869, http://dx.doi.org/10.1111/epi.13560
,2016, 'Dissecting the clinical outcome and cause of abnormalities of the corpus callosum', Developmental Medicine and Child Neurology, 58, pp. 430 - 431, http://dx.doi.org/10.1111/dmcn.13079
,2016, 'Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy', Human Molecular Genetics, 25, pp. 3042 - 3054, http://dx.doi.org/10.1093/hmg/ddw157
,2016, 'New insights into Brunner syndrome and potential for targeted therapy', Clinical Genetics, 89, pp. 120 - 127, http://dx.doi.org/10.1111/cge.12589
,2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, 116, pp. 178 - 186, http://dx.doi.org/10.1016/j.ymgme.2015.08.007
,2015, 'THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability', American Journal of Human Genetics, 97, pp. 302 - 310, http://dx.doi.org/10.1016/j.ajhg.2015.05.021
,2014, 'Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability', American Journal of Medical Genetics, Part A, 164, pp. 377 - 385, http://dx.doi.org/10.1002/ajmg.a.36279
,2014, 'Agenesis of the corpus callosum: A clinical approach to diagnosis', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 166, pp. 184 - 197, http://dx.doi.org/10.1002/ajmg.c.31405
,2012, 'Chromosome microarray in Australia: A guide for paediatricians', Journal of Paediatrics and Child Health, 48, pp. E59 - E67, http://dx.doi.org/10.1111/j.1440-1754.2011.02081.x
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