Scheduled Maintenance Notice
Please note that Researcher Profiles will be undergoing scheduled maintenance on Wednesday 7th Oct, from 8:00am to 9:00am. During this time, the Researcher Profiles system will be unavailable. We apologise for any inconvenience and appreciate your understanding.
Select Publications
Journal articles
, 2020, 'Mutations in the exocyst component EXOC2 cause severe defects in human brain development', Journal of Experimental Medicine, 217, pp. e20192040, http://dx.doi.org/10.1084/JEM.20192040
, 2019, 'The long noncoding RNA lncNB1 promotes tumorigenesis by interacting with ribosomal protein RPL35', Nature Communications, 10, pp. 5026, http://dx.doi.org/10.1038/s41467-019-12971-3
, 2019, 'Development and validation of a targeted gene sequencing panel for application to disparate cancers', Scientific Reports, 9, pp. 17052, http://dx.doi.org/10.1038/s41598-019-52000-3
, 2019, 'Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care', European Journal of Human Genetics, 27, pp. 1493 - 1501, http://dx.doi.org/10.1038/s41431-019-0429-y
, 2019, 'Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity', Nature Immunology, 20, pp. 1299 - 1310, http://dx.doi.org/10.1038/s41590-019-0492-0
, 2019, 'Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications', Journal of Medical Genetics, 56, pp. 629 - 638, http://dx.doi.org/10.1136/jmedgenet-2019-106019
, 2019, 'Index suffix-prefix overlaps by (w, k)-minimizer to generate long contigs for reads compression', Bioinformatics, 35, pp. 2066 - 2074, http://dx.doi.org/10.1093/bioinformatics/bty936
, 2019, 'Lipid uptake is an androgen-enhanced lipid supply pathway associated with prostate cancer disease progression and bone metastasis', Molecular Cancer Research, 17, pp. 1166 - 1179, http://dx.doi.org/10.1158/1541-7786.MCR-18-1147
, 2019, 'Preparing Australia for genomic medicine: data, computing and digital health', Medical Journal of Australia, 210, pp. S30 - S32, http://dx.doi.org/10.5694/mja2.50032
, 2019, 'Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection', Human Mutation, 40, pp. 374 - 379, http://dx.doi.org/10.1002/humu.23699
, 2019, 'Role and practice evolution for genetic counseling in the genomic era: The experience of Australian and UK genetics practitioners', Journal of Genetic Counseling, 28, pp. 378 - 387, http://dx.doi.org/10.1002/jgc4.1053
, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013
, 2019, 'Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy', Genetics in Medicine, 21, pp. 650 - 662, http://dx.doi.org/10.1038/s41436-018-0084-7
, 2019, 'The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design', European Journal of Human Genetics, 27, pp. 308 - 316, http://dx.doi.org/10.1038/s41431-018-0279-z
, 2019, 'RNAcentral: a hub of information for non-coding RNA sequences', Nucleic Acids Research, 47, pp. D1250 - D1251, http://dx.doi.org/10.1093/nar/gky1206
, 2019, 'Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases', Cold Spring Harbor Molecular Case Studies, 5, pp. a003764, http://dx.doi.org/10.1101/mcs.a003764
, 2019, 'Mouse Model of Mutated in Colorectal Cancer Gene Deletion Reveals Novel Pathways in Inflammation and Cancer', Cellular and Molecular Gastroenterology and Hepatology, 7, pp. 819 - 839, http://dx.doi.org/10.1016/j.jcmgh.2019.01.009
, 2019, 'RNAcentral: A hub of information for non-coding RNA sequences', Nucleic Acids Research, 47, pp. D221 - D229, http://dx.doi.org/10.1093/nar/gky1034
, 2019, 'Seave: A comprehensive web platform for storing and interrogating human genomic variation', Bioinformatics, 35, pp. 122 - 125, http://dx.doi.org/10.1093/bioinformatics/bty540
, 2018, 'Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders', Genetics in Medicine, 20, pp. 1564 - 1574, http://dx.doi.org/10.1038/gim.2018.39
, 2018, 'Response to Brodehl et al.', Genetics in Medicine, pp. 1 - 2, http://dx.doi.org/10.1038/s41436-018-0292-1
, 2018, 'Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms', Molecular Genetics and Metabolism Reports, 16, pp. 46 - 51, http://dx.doi.org/10.1016/j.ymgmr.2018.07.003
, 2018, 'Realizing the significance of noncoding functionality in clinical genomics', Experimental and Molecular Medicine, 50, pp. 1 - 8, http://dx.doi.org/10.1038/s12276-018-0087-0
, 2018, 'Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy', Journal of the American College of Cardiology, 72, pp. 419 - 429, http://dx.doi.org/10.1016/j.jacc.2018.04.078
, 2018, 'I-motif DNA structures are formed in the nuclei of human cells', Nature Chemistry, 10, pp. 631 - 637, http://dx.doi.org/10.1038/s41557-018-0046-3
, 2018, 'Evidence that TLR4 Is Not a Receptor for Saturated Fatty Acids but Mediates Lipid-Induced Inflammation by Reprogramming Macrophage Metabolism', Cell Metabolism, 27, pp. 1096 - 1110.e5, http://dx.doi.org/10.1016/j.cmet.2018.03.014
, 2018, 'Machine learning annotation of human branchpoints', Bioinformatics, 34, pp. 920 - 927, http://dx.doi.org/10.1093/bioinformatics/btx688
, 2018, 'Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis', Experimental Eye Research, 168, pp. 161 - 170, http://dx.doi.org/10.1016/j.exer.2017.12.012
, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355
, 2018, 'NMNAT1 variants cause cone and cone-rod dystrophy', European Journal of Human Genetics, 26, pp. 428 - 433, http://dx.doi.org/10.1038/s41431-017-0029-7
, 2018, 'Universal Alternative Splicing of Noncoding Exons', Cell Systems, 6, pp. 245 - 255.e5, http://dx.doi.org/10.1016/j.cels.2017.12.005
, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006
, 2018, 'Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing', Medical Journal of Australia, 209, pp. 197, http://dx.doi.org/10.5694/mja17.01176
, 2017, 'Intergenic disease-associated regions are abundant in novel transcripts', Genome Biology, 18, pp. 241, http://dx.doi.org/10.1186/s13059-017-1363-3
, 2017, 'CCR6 Defines Memory B Cell Precursors in Mouse and Human Germinal Centers, Revealing Light-Zone Location and Predominant Low Antigen Affinity', Immunity, 47, pp. 1142 - 1153.e4, http://dx.doi.org/10.1016/j.immuni.2017.11.022
, 2017, 'Benchmarking of RNA-sequencing analysis workflows using whole-transcriptome RT-qPCR expression data', Scientific Reports, 7, http://dx.doi.org/10.1038/s41598-017-01617-3
, 2017, 'Cancer-Associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression', Scientific Reports, 7, pp. 708, http://dx.doi.org/10.1038/s41598-017-00739-y
, 2017, 'High resolution temporal transcriptomics of mouse embryoid body development reveals complex expression dynamics of coding and noncoding loci', Scientific Reports, 7, http://dx.doi.org/10.1038/s41598-017-06110-5
, 2017, 'Novel aberrations uncovered in Barrett's esophagus and esophageal adenocarcinoma using whole transcriptome sequencing', Molecular Cancer Research, 15, pp. 1558 - 1569, http://dx.doi.org/10.1158/1541-7786.MCR-17-0332
, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088
, 2017, 'Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage', American Journal of Human Genetics, 101, pp. 255 - 266, http://dx.doi.org/10.1016/j.ajhg.2017.07.007
, 2017, 'Initiating an undiagnosed diseases program in the Western Australian public health system', Orphanet Journal of Rare Diseases, 12, pp. 83, http://dx.doi.org/10.1186/s13023-017-0619-z
, 2017, 'Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours', European Journal of Endocrinology, 176, pp. 635 - 644, http://dx.doi.org/10.1530/EJE-16-0944
, 2017, 'The regulatory role of long noncoding RNAs in cancer', Cancer Letters, 391, pp. 12 - 19, http://dx.doi.org/10.1016/j.canlet.2017.01.010
, 2017, 'Widespread promoter methylation of synaptic plasticity genes in long-term potentiation in the adult brain in vivo', BMC Genomics, 18, pp. 250, http://dx.doi.org/10.1186/s12864-017-3621-x
, 2017, 'Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy', European Journal of Human Genetics, 25, pp. 763 - 767, http://dx.doi.org/10.1038/ejhg.2017.29
, 2017, 'The long non-coding RNA NEAT1 is responsive to neuronal activity and is associated with hyperexcitability states', Scientific Reports, 7, pp. 40127, http://dx.doi.org/10.1038/srep40127
, 2017, 'Gonadotrophin suppression in men leads to a reduction in claudin-11 at the Sertoli cell tight junction', CLINICAL ENDOCRINOLOGY, 86, pp. 32 - 32, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000393453600090&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2017, 'Improved diagnosis and care for rare diseases through implementation of precision public health framework', Advances in Experimental Medicine and Biology, 1031, pp. 55 - 94, http://dx.doi.org/10.1007/978-3-319-67144-4_4
, 2017, 'RNA-seq reveals more consistent reference genes for gene expression studies in human non-melanoma skin cancers', Peerj, 2017, pp. e3631, http://dx.doi.org/10.7717/peerj.3631