Select Publications
Journal articles
2010, 'High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility', Molecular Psychiatry, 15, pp. 954 - 968, http://dx.doi.org/10.1038/mp.2009.34
,2010, 'Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation', Movement Disorders, 25, pp. 1086 - 1090, http://dx.doi.org/10.1002/mds.23002
,2009, 'Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection', European Journal of Human Genetics, 17, pp. 1347 - 1353, http://dx.doi.org/10.1038/ejhg.2009.47
,2009, 'MET and autism susceptibility: Family and case-control studies', European Journal of Human Genetics, 17, pp. 749 - 758, http://dx.doi.org/10.1038/ejhg.2008.215
,2008, 'Analysis of X chromosome inactivation in autism spectrum disorders', American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147, pp. 830 - 835, http://dx.doi.org/10.1002/ajmg.b.30688
,2008, 'The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms', Human Molecular Genetics, 17, pp. 859 - 871, http://dx.doi.org/10.1093/hmg/ddm358
,2007, 'Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations [2]', Molecular Psychiatry, 12, pp. 977 - 979, http://dx.doi.org/10.1038/sj.mp.4002069
,2007, 'Alternative splicing in the dyslexia-associated gene KIAA0319', Mammalian Genome, 18, pp. 627 - 634, http://dx.doi.org/10.1007/s00335-007-9051-3
,2007, 'Mapping autism risk loci using genetic linkage and chromosomal rearrangements', Nature Genetics, 39, pp. 319 - 328, http://dx.doi.org/10.1038/ng1985
,2006, 'SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample', European Journal of Human Genetics, 14, pp. 123 - 126, http://dx.doi.org/10.1038/sj.ejhg.5201444
,Conference Papers
2019, 'EPIGENOME-WIDE ASSOCIATION STUDY (EWAS) OF YOUNG PEOPLE WITH FAMILIAL RISK OF BIPOLAR DISORDER', in EUROPEAN NEUROPSYCHOPHARMACOLOGY, ELSEVIER, CA, Los Angeles, pp. S192 - S192, presented at 27th World Congress of Psychiatric Genetics (WCPG), CA, Los Angeles, 26 October 2019 - 31 October 2019, http://dx.doi.org/10.1016/j.euroneuro.2019.08.149
,2015, 'Addressing Rare Variant Contributions to the Genetic Architecture of Bipolar Disorder, Utilizing Extended Families with Highly Penetrant Forms of Illness', in European Neuropsychopharmacology, ELSEVIER SCIENCE BV, Toronto, Canada, pp. S293 - S293, presented at XXIII World Congress of Psychiatric Genetics, Toronto, Canada, 28 October 2015 - 30 October 2015, http://dx.doi.org/10.1016/j.euroneuro.2015.09.009
,2013, 'Screening of cacna1a and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies', in JOURNAL OF HEADACHE AND PAIN, SPRINGER-VERLAG ITALIA SRL, http://dx.doi.org/10.1186/1129-2377-14-S1-P26
,2010, 'CEREBRAL FOLATE DEFICIENCY AND DISEASES OF THE CENTRAL NERVOUS SYSTEM IN CHILDHOOD', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S159 - S159, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000281735000510&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2006, 'A gene centric association study of 1500 SNPs in the chromosome 2q autism susceptibility locus', in AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, WILEY-LISS, ITALY, Cagliari, pp. 767 - 768, presented at 14th World Congress on Psychiatric Genetics, ITALY, Cagliari, 28 October 2006 - 01 November 2006, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000240877700370&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,Conference Abstracts
2021, 'Medical morbidity and mortality in Australians with bipolar disorder from linked administrative data', in BIPOLAR DISORDERS, WILEY, Vol. 23, pp. 51 - 52, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000663051300119&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2019, 'Identification and characterisation of bipolar disorder in Australia using administrative health data', in BIPOLAR DISORDERS, WILEY, AUSTRALIA, Sydney, Vol. 21, pp. 69 - 70, presented at 21st Annual ISBD Conference on Global Advances in Bipolar Disorder and Depression, AUSTRALIA, Sydney, 20 March 2019 - 23 March 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000461513600148&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2019, 'The role of rare variants in bipolar disorder', in BIPOLAR DISORDERS, WILEY, AUSTRALIA, Sydney, Vol. 21, pp. 40 - 41, presented at 21st Annual ISBD Conference on Global Advances in Bipolar Disorder and Depression, AUSTRALIA, Sydney, 20 March 2019 - 23 March 2019
,2019, 'Genetic factors influencing quantitative measures of subjective and psychological wellbeing using the COMPAS-W scale in a healthy Australian twin cohort', in Behavior Genetics, Stockholm, Vol. 49, pp. 511 - 511, presented at Behavior Genetics Association, Stockholm
,2017, 'M68 THE RELATIONSHIP BETWEEN FUNCTIONAL DOPAMINE D2 RECEPTOR HAPLOTYPES AND COGNITIVE OUTCOMES, AS MEDIATED BY REGIONAL BRAIN STRUCTURE: A COMPARISON OF CONTROL, AT-RISK, AND BIPOLAR DISORDER SUBJECTS', in European Neuropsychopharmacology, Elsevier, FL, Orlando, Vol. 29, pp. s991 - s992, presented at 25th World Congress of Psychiatric Genetics (WCPG), FL, Orlando, 13 October 2017 - 17 October 2017, http://dx.doi.org/10.1016/j.euroneuro.2017.08.375
,2017, 'SU67 INTERACTIVE EFFECTS OF FAMILY HISTORY, POLYGENIC RISK AND AGE ON CORTICAL THICKNESS IN YOUNG PEOPLE AT HIGH GENETIC RISK OF BIPOLAR DISORDER', in European Neuropsychopharmacology, Elsevier, FL, Orlando, Vol. 29, pp. s924, presented at 25th World Congress of Psychiatric Genetics (WCPG), FL, Orlando, 13 October 2017 - 17 October 2017, http://dx.doi.org/10.1016/j.euroneuro.2017.08.256
,2016, 'CONTRIBUTION OF THE 14-3-3 GENE FAMILY TO AUTISM SPECTRUM DISORDER', in EUROPEAN NEUROPSYCHOPHARMACOLOGY, ELSEVIER SCIENCE BV, ISRAEL, Jerusalem, Vol. 27, pp. S374 - S375, presented at 24th World Congress of Psychiatric Genetics (WCPG), ISRAEL, Jerusalem, 30 October 2016 - 04 November 2016, http://dx.doi.org/10.1016/j.euroneuro.2016.09.404
,Preprints
2024, Fine-mapping genomic loci refines bipolar disorder risk genes., , http://dx.doi.org/10.1101/2024.02.12.24302716
,2022, Pathogenic mis-splicing of CPEB4 in schizophrenia, , http://dx.doi.org/10.1101/2022.09.22.508890
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