Select Publications
Journal articles
2025, 'Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries (Journal of Clinical Immunology, (2024), 44, 8, (170), 10.1007/s10875-024-01774-x)', Journal of Clinical Immunology, 45, http://dx.doi.org/10.1007/s10875-024-01801-x
,2024, 'A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries', Journal of Clinical Immunology, 44, http://dx.doi.org/10.1007/s10875-024-01774-x
,2024, 'A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship', Genetics in Medicine Open, 2, http://dx.doi.org/10.1016/j.gimo.2024.101842
,2023, 'The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study', Genome Medicine, 15, http://dx.doi.org/10.1186/s13073-023-01223-1
,2023, 'Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity', European Journal of Human Genetics, 31, pp. 1125 - 1132, http://dx.doi.org/10.1038/s41431-023-01321-z
,2023, 'The Queensland IMplementation of PRecision Oncology in brEast cancer (Q-IMPROvE) pilot study', Medical Journal of Australia, 218, pp. 374 - 375, http://dx.doi.org/10.5694/mja2.51900
,2022, 'Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions', Human Mutation, 43, pp. 2054 - 2062, http://dx.doi.org/10.1002/humu.24468
,2022, 'Early cost–utility analysis of genetically guided therapy for patients with drug-resistant epilepsy', Epilepsia, 63, pp. 3111 - 3121, http://dx.doi.org/10.1111/epi.17408
,2022, 'Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation', American Journal of Human Genetics, 109, pp. 1960 - 1973, http://dx.doi.org/10.1016/j.ajhg.2022.10.006
,2022, 'Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels', ESMO Open, 7, http://dx.doi.org/10.1016/j.esmoop.2022.100540
,2021, 'Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency', Journal of Clinical Immunology, 41, pp. 1915 - 1935, http://dx.doi.org/10.1007/s10875-021-01141-0
,2021, 'Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model', Human Mutation, 42, pp. 530 - 536, http://dx.doi.org/10.1002/humu.24183
,2021, 'Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing', European Journal of Human Genetics, 29, pp. 760 - 770, http://dx.doi.org/10.1038/s41431-020-00796-4
,2021, 'Developing a gene panel for pharmacoresistant epilepsy: A review of epilepsy pharmacogenetics', Pharmacogenomics, 22, pp. 225 - 234, http://dx.doi.org/10.2217/pgs-2020-0145
,2018, 'miR-139-5p modulates radiotherapy resistance in breast cancer by repressing multiple gene networks of DNA repair and ROS defense', Cancer Research, 78, pp. 501 - 515, http://dx.doi.org/10.1158/0008-5472.CAN-16-3105
,2014, 'Haematopoietic stem cell induction by somite-derived endothelial cells controlled by meox1', Nature, 512, pp. 314 - 318, http://dx.doi.org/10.1038/nature13678
,2012, 'Scube activity is necessary for Hedgehog signal transduction in vivo', Developmental Biology, 368, pp. 193 - 202, http://dx.doi.org/10.1016/j.ydbio.2012.05.007
,2012, 'Stac3 is required for myotube formation and myogenic differentiation in vertebrate skeletal muscle', The Journal of Biological Chemistry, 287, pp. 43936 - 43949, http://dx.doi.org/10.1074/jbc.M112.361311
,2007, 'Sdf1a patterns zebrafish melanophores and links the somite and melanophore pattern defects in choker mutants', Development (Cambridge), 134 (5), pp. 1011 - 1022
,2007, 'The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha 2-deficient congenital muscular dystrophy', Proceedings of the National Academy of Sciences of the United States of America, 104, pp. 7092 - 7097
,2007, 'Whole-somite rotation generates muscle progenitor cell compartments in the developing zebrafish embryo', Developmental Cell, 12, pp. 207 - 219
,2006, 'Scube2 mediates Hedgehog signalling in the zebrafish embryo', Developmental Biology, 294, pp. 104 - 118
,2005, 'Vertebrate myotome development', Birth Defects Research Part C - Embryo Today: Reviews, 75, pp. 172 - 179, http://dx.doi.org/10.1002/bdrc.20046
,2004, 'Met and Hgf signaling controls hypaxial muscle and lateral linedevelopment in the zebrafish', Development (Cambridge), 131, pp. 4857 - 4869
,2003, 'Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation', American Journal of Human Genetics, 72, pp. 1401 - 1411, http://dx.doi.org/10.1086/375538
,2003, 'Myotome meanderings. Cellular morphogenesis and the making of muscles', EMBO Reports, 4, pp. 855 - 860
,2000, 'Zebrafish earn their stripes', Trends in Genetics, 16, pp. 236 - 236, http://dx.doi.org/10.1016/s0168-9525(00)01992-2
,1999, 'Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation', Genomics, 62, pp. 356 - 368, http://dx.doi.org/10.1006/geno.1999.6032
,1998, 'Polymorphic variants within the homeobox gene MSX1: A candidate gene for developmental disorders', Clinical Genetics, 54, pp. 152 - 154, http://dx.doi.org/10.1111/j.1399-0004.1998.tb03719.x
,1998, 'Deafness due to PRO250 ARG mutation of FGFR3', Lancet, pp. 877 - 878
,1997, 'Mutation detection in FGFR2 craniosynostosis syndromes', Human Genetics, 99, pp. 251 - 255, http://dx.doi.org/10.1007/s004390050348
,1997, 'A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome', American Journal of Human Genetics, 60, pp. 555 - 564
,1995, 'Localization of craniosynostosis adelaide type to 4p16', Human Molecular Genetics, 4, pp. 681 - 683, http://dx.doi.org/10.1093/hmg/4.4.681
,1995, 'Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2', Nature Genetics, 10, pp. 117 - 118, http://dx.doi.org/10.1038/ng0595-117
,1994, 'Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1', American Journal of Medical Genetics, 53, pp. 65 - 71, http://dx.doi.org/10.1002/ajmg.1320530114
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