Recent Publications

The following is a list of recent peer reviewed publications in which Australian researchers were involved.


Foldi C J Eyles DW Flatscher-Bader T McGrath JJ (2011) New Perspectives on Rodent Models of Advanced Paternal Age: Relevance to Autism Front Behav Neurosci. 5 32. doi:  10.3389/fnbeh.2011.00032

Loke YJ Hannan AJ Craig JM (2015) A Review. The role of epigenetic change in autism spectrum disorders Front. Neurol. 6:107. doi: 10.3389/fneur.2015.00107

Fragile X

Godler DE Inaba Y Shi EZ Skinner C Bui QM Francis D Amor DJ Hopper JL Loesch DZ Hagerman RJ Schwartz CE Slater HR (2013) Relationships between age and epi-genotype of the FMR1 exon 1 / intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty. Hum Mol Genet. 22 (8):1516-24. doi: 10.1093/hmg/ddt002. Epub 2013 Jan 10.

Loesch D Tassone F Lo J Slater H Hills L Bui M Silburn P Mellick G (2012) New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease. Clinical Genetics 84 4 382-385 doi: 10.1111/cge.12070

Godler DE Slater HR Bui QM Storey E Ono MY Gehling F Inaba Y Francis D Hopper JL Kinsella G Amor DJ Hagerman RJ Loesch DZ (2012) Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study. Clinical Chemistry 58 (3) 590 - 8 doi: 10.1373/clinchem.2011.177626

Inaba Y Herlihy AS Schwartz CE Skinner C Bui QM Cobb J Shi EZ Francis D Arvaj A Amor DJ Pope K Wotton T Cohen J Hewitt JK Hagerman RJ Metcalfe SA Hopper JL Loesch DZ Slater HR Godler DE (2013) Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study. Genet Med. (4):290-8 doi: 10.1038/gim.2012.134. Epub 2012 Oct 11.

Loesch DZ Godler DE Evans A Bui QM Gehling F Kotschet KE Trost N Storey E Stimpson P Kinsella G Francis D Thorburn DR Venn A Slater HR Horne M (2011) Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.

Loesch DZ  Kotschet K Trost N Greco CM Kinsella G Slater HR Venn A Horne M (2011) White Matter Changes in Basis Pontis in Small Expansion FMR1 Allele Carriers With Parkinsonism. Am J Med Genet B Neuropsychiatr Genet. 156B(4):502-6. doi: 10.1002/ajmg.b.31189. Epub 2011 Mar 28.

Bruno DL White SM Ganesamoorthy D Burgess T Butler K Corrie S Francis D Hills L Prabhakara K Ngo C Norris F Oertel R Pertile MD Stark Z Amor DJ Slater HR (2011) Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. J Med Genet. 48(12):831-9. doi: 10.1136/jmedgenet-2011-100372. Epub 2011 Oct 29

Burrows E L Hannan AJ Characterising Social Behaviour in Genetically Targeted Mouse Models of Brain Disorders. (2013) Methods in Molecular Biology 1017 95-104


B W M van Bon, B P Coe, R Bernier, C Green, J Gerdts, K Witherspoon, T Kleefstra, M H Willemsen, R Kumar, P Bosco, M Fichera, D Li, D Amaral, F Cristofoli, H Peeters, E Haan, C Romano, H C Mefford, I Scheffer, J Gecz, B B A de Vries and E E Eichler (2016) Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID Molecular Psychiatry 21, 126-132 (January 2016) | doi:10.1038/mp.2015.5
Berkovitz SR Featherby TJ Qu Z Giousoh A Borg NA Heng JI Whisstock JC Bird PI (2016) Brinp1 −/− mice exhibit autism-like behaviour, altered memory, hyperactivity and increased parvalbumin-positive cortical interneuron density. Molecular Autism Brain, Cognition and Behavior 2016 7:22 doi: 10.1186/s13229-016-0079-7
Yao P Lin P Gokoolparsadh A Assareh A Thang MWC Voineagu I Coexpression networks identify brain region–specific enhancer RNAs in the human brain Nature Neuroscience(2015) doi:10.1038/nn.4063
Burrows E Laskaris L Koyama L Churilov L Bornstein JC Hill-Yardin EL Hannan AJ (2015) A neuroligin-3 mutation implicated in autism causes abnormal aggression and increases repetitive behavior in mice. Molecular Autism (2015) 6:62 DOI 10.1186/s13229-015-0055-7
J Y An, A S Cristino, Q Zhao, J Edson, S M Williams, D Ravine, J Wray, V M Marshall, A Hunt, A J O Whitehouse and C Claudianos Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach Translational Psychiatry (2014) 4, e394; doi:10.1038/tp.2014.38 Epub 3 June 2014
An J Cristino AS Zhao Q Ravine D Wray JA Marshall VM Whitehouse AJ Claudianos C (2012). A network-based approach to diagnosis of Autism Spectrum disorders Front. Hum.Neurosci. Conference Abstract: ACNS-2012 Australasian Cognitive Neuroscience Conference.doi: 10.3389/conf.fnhum.2012.208.00120
Skafidis E Testa R Zantomio D Chana G Everall IP Pantelis C (2012) Predicting the diagnosis of autism spectrum disorder using gene pathway analysis. Molecular Psychiatry 1-7 Molecular Psychiatry advance online publication 11 September 2012; doi: 10.1038/mp.2012.126
Armani R Archer H Clarke A Vasudevan P Zweier C Ho G Williamson, S Cloosterman D Yang N Christodoulou J (2012), Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome. American Journal of Medical Genetics. Part A. 158A(4), 713-719.
Aziz A, Harrop SP, Bishop NE (2011) DIA1R Is an X-Linked Gene Related to Deleted In Autism-1. PLoS ONE 6(1): e14534. doi:10.1371/journal.pone.0014534
Aziz A, Harrop SP, Bishop NE (2011) Characterization of the Deleted in Autism 1 Protein Family: Implications for Studying Cognitive Disorders. PLoS ONE 6(1): e14547. doi:10.1371/journal.pone.0014547
Piper M Moldrich RX Lindwall C Little E Barry G Mason S Sunn N Kurniawan ND Gronastajski RN Richards LJ (2009) Multiple non-cell-autonomous defects underlie neocortical callosal dysgenesis in Nfib-deficient mice Neural Development 4:43 doi:10.1186/1749-8104-4-43
Metabotropic Glutamate Receptors
Chan G Laskaris L Pantelis C Gillett P Testa R Zantomio D Burrows EL Hannan AJ, Everall IP, Skafidas E Decreased expression of mGLuR5 within the dorsolateral prefrontal cortex in autism and increased microglial number in mGLuR5 knockout mice: pathophysiological and neurobehavioural implications Brain Behav. Imm. (2015)
Dadds MR MacDonald E Cauchi A Williams K Levy F Brennan J (2014) Nasal Oxytocin for Social Deficits in Childhood Autism: a Randomised Controlled Trial Journal of Autism and Developmental Disorders March 2014 44 3 52-531
Guastella AJ McLeod C (2012) A critical review of the influence of oxytocin nasal spray on social cognition in humans: evidence and future directions
Horm Behav. 2012 Mar;61(3):410-8. doi: 10.1016/j.yhbeh.2012.01.002. Epub 2012 Jan 11.
Guastella AJ Einfeld SL Gray KM Reinhart NJ Tonge BJ Lambert TJ Hickie IB (2010) Intranasal Oxytocin Improves Emotion Recognition for Youth with Autism Spectrum Disorders Biological Psychiatry 67 7 1 692–694
Yatawara CJ Einfeld SL Hickie IB Davenport DA Guastella AJ The effect of oxytocin nasal spray on social interaction deficits observed in young children with autism: a randomized clinical crossover trial. Mol Psychiatry. 2015 Oct 27. doi: 10.1038/mp.2015.162. [Epub ahead of print]
Lane AE Molloy CA Bishop SL Classification of children with autism spectrum disorder by sensory subtype: a case for sensory-based phenotypes. Autism Res. 2014 Jun;7(3):322-33. doi: 10.1002/aur.1368. Epub 2014 Mar 17.
Rett Syndrome
Kondo MA Grey LJ Pelka GJ Leang SK Christadoulou J Tam PP Hannan AJ Affective dysfunction in a mouse model of Rett syndrome: Therapeutic effects of environmental stimulation and physical activity. Dev Neurobiol. 2015 May 27. doi: 10.1002/dneu.22308. [Epub ahead of print]
Argyropoulos A Gilby K L Hill-Yardin E (2013) Studying autism in rodent models: reconciling endophenotypes with comorbidities  Front Hum Neurosci. 7 417. doi: 10.3389/fnhum.2013.00417
Main PA  Angley MT  Thomas P  O'Doherty CE  Fenech M (2010)  Folate and methionine metabolism in autism: a systematic review. Am J Clin Nutr. 91(6):1598-620. doi: 10.3945/ajcn.2009.29002 [ Erratum in Am J Clin Nutr. 92(4):1001].
Loke YJ Hannan AJ Craig JM The role of epigenetic change in autism spectrum disorders Front. Neurol. doi:10.3389/fneur.2015.00107
Synaptic studies
Cristino AS Barchuk AR Freitas FCP Narayanan RK Biergans SD Zhao Z Somoes ZLP Reinhard J Claudianos C Neuroligin-associated ​microRNA-932 targets actin and regulates memory in the honeybee Nature Communications 5 559 doi:10.1038/ncomms6529 Nov. 2014
Biswas S Reinhard J Oakeshott J Russell R Srinivasan MV et al. (2010) Sensory Regulation of Neuroligins and Neurexin in the Honeybee Brain. PLoS ONE 5(2): e9133. doi:10.1371/journal.pone.0009133
Robinson M Whitehouse AJ Jacoby P Mattes E Sawyer M.G Keelan JA Hickey M (2013) Umbilical Cord Blood Testosterone and Childhood Internalizing and Externalizing Behavior: A Prospective Study, PLoS ONE 8 4 pp. e59991.
Hollier LP Mattes E Maybery MT Keelan JA Hickey M Whitehouse AJO (2013) The association between perinatal testosterone concentration and early vocabulary development: A prospective cohort study Biological Psychology 92 212-215. 
Farrant BM Mattes E Keelan JA Hickey M Whitehouse AJ (2012), Fetal Testosterone, Socio-Emotional Engagement and Language Development, Infant and Child Development 22 2 119-132 doi: 10.1002/icd.1771
Keelan JA Mattes E Tan H Dinan A., Newnham JP Whitehouse AJO Jacoby P Hickey M (2012), Androgen concentrations in umbilical cord blood and their association with maternal, fetal and obstetric factors, PLoS ONE, 7, 8, pp. e42827.1-10.
Whitehouse AJ Mattes E Maybery MT Sawyer MG Jacoby P Keelan JA, Hickey M. (2012) Sex-specific associations between umbilical cord blood testosterone levels and language delay in early childhood. J Child Psychol Psychiatry 53(7):726-34. doi: 10.1111/j.1469-7610.2011.02523.x. Epub 2012 Jan 26.
Transcranial Magnetic Stimulation (TMS) 
Enticott PG Kennedy HA Rinehart N Tonge BJ Bradshaw JL Fitzgerald PB (2013) GABAergic activity in autism spectrum disorders: an investigation of cortical inhibition via transcranial magnetic stimulation  Neuropharmacology (P) 68 202-209
Enticott P Kennedy H Rinehart N Tonge B Bradshaw J Taffe J Daskalakis Z Fitzgerald P (2012) Mirror neuron activity associated with social impairments but not age in autism spectrum disorder Biological Psychiatry[P] 71 5 427-433
Enticott P Kennedy H Rinehart N Tonge B Bradshaw J Fitzgerald P (2012) Repetitive trans cranial magnetic stimulation (rTMS) improves movement related cortical potentials in autism spectrum disorders Brain Stimulation [P] 5 1 30-37
Vitamin D
Whitehouse AJO Holt BJ Serralha M Holt PG Hart PH Kusel MMH. (2012) Maternal serum vitamin D levels during pregnancy and offspring neurocognitive development Pediatrics 129 3 485-493 doi: 10.1542/peds.2011-2644