ORCID as entered in ROS
![orcid_icon](/themes/resgate8/images/icons/ORCIDiD_icon24x24.png)
Select Publications
2024, 'Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study', Clinical Journal of the American Society of Nephrology, 19, pp. 887 - 897, http://dx.doi.org/10.2215/CJN.0000000000000464
,2024, 'Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR)', Journal of Clinical Immunology, 44, http://dx.doi.org/10.1007/s10875-023-01637-x
,2024, 'Neuropathological Applications of Microscopy with Ultraviolet Surface Excitation (MUSE): A Concordance Study of Human Primary and Metastatic Brain Tumors', Brain Sciences, 14, pp. 108, http://dx.doi.org/10.3390/brainsci14010108
,2024, 'A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship', Genetics in Medicine Open, 2, pp. 101842 - 101842, http://dx.doi.org/10.1016/j.gimo.2024.101842
,2024, 'Designing and optimising massively multiplex genetic tests for equitable, pan-ancestry reproductive carrier screening: The “Goldilocks” panel', Clinica Chimica Acta, 558, pp. 119513 - 119513, http://dx.doi.org/10.1016/j.cca.2024.119513
,2024, 'Novel tool for improving the quality of genetic pathology post-analytical reports', Pathology, 56, pp. S96 - S96, http://dx.doi.org/10.1016/j.pathol.2023.12.324
,2024, 'Novel tool for improving the quality of genetic pathology post-analytical reports', Clinica Chimica Acta, 558, pp. 119527 - 119527, http://dx.doi.org/10.1016/j.cca.2024.119527
,2024, 'P493: The "Goldilocks" panel: Determining the optimal number of genes for reproductive genetic carrier screening', Genetics in Medicine Open, 2, pp. 101392 - 101392, http://dx.doi.org/10.1016/j.gimo.2024.101392
,2024, 'The ‘Goldilocks’ panel: determining the optimal number of genes to include for equitable, pan-ancestry carrier screening', Pathology, 56, pp. S96 - S97, http://dx.doi.org/10.1016/j.pathol.2023.12.325
,2023, 'Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals', American Journal of Human Genetics, 110, pp. 551 - 564, http://dx.doi.org/10.1016/j.ajhg.2023.02.013
,2023, 'Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection', European Journal of Human Genetics, 31, pp. 257 - 261, http://dx.doi.org/10.1038/s41431-022-01251-2
,2023, 'Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study', Journal of Medical Genetics, 60, pp. 265 - 273, http://dx.doi.org/10.1136/jmedgenet-2022-108519
,2023, 'Hyper-IgM and acquired C1q complement deficiency in a patient with de novo ATM mutation', Oxford Medical Case Reports, 2023, pp. 55 - 59, http://dx.doi.org/10.1093/omcr/omad005
,2023, 'Machine Learning Tools: Impact in Reducing VUS in Arrhythmia Genes for Individuals From Underrepresented Populations Compared to Well-Studied Populations', Heart, Lung and Circulation, 32, pp. S315 - S315, http://dx.doi.org/10.1016/j.hlc.2023.06.444
,2022, 'The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation', Journal of Personalized Medicine, 12, http://dx.doi.org/10.3390/jpm12111781
,2022, 'Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis', Genetics in Medicine, 24, pp. 1618 - 1629, http://dx.doi.org/10.1016/j.gim.2022.04.021
,2022, 'Evaluating the model of offering expanded genetic carrier screening to high school students within the Sydney Jewish community', Journal of Community Genetics, 13, pp. 121 - 131, http://dx.doi.org/10.1007/s12687-021-00567-8
,2022, 'Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8', Journal of Clinical Immunology, 42, pp. 119 - 129, http://dx.doi.org/10.1007/s10875-021-01152-x
,2022, 'Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants', Genetics in Medicine, 24, pp. 130 - 145, http://dx.doi.org/10.1016/j.gim.2021.09.001
,2021, 'ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data', Genome Medicine, 13, pp. 32, http://dx.doi.org/10.1186/s13073-021-00841-x
,2021, 'Prevalence estimates of predicted pathogenic col4a3-col4a5 variants in a population sequencing database and their implications for alport syndrome', Journal of the American Society of Nephrology, 32, pp. 2273 - 2290, http://dx.doi.org/10.1681/ASN.2020071065
,2021, 'Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: A protocol paper', BMJ Open, 11, pp. e041186, http://dx.doi.org/10.1136/bmjopen-2020-041186
,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, 'Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency', Journal of Clinical Investigation, 131, http://dx.doi.org/10.1172/JCI142434
,2021, 'Is automated genomic reporting ready for prime time?', Pathology, 53, pp. S12 - S12, http://dx.doi.org/10.1016/j.pathol.2021.05.046
,2020, 'The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery', Journal of Clinical Immunology, 40, pp. 763 - 766, http://dx.doi.org/10.1007/s10875-020-00787-6
,2020, 'Is automated genomic reporting ready for prime time?', Pathology, 52, pp. S32 - S32, http://dx.doi.org/10.1016/j.pathol.2020.01.129
,2020, 'Measuring the quality of pathology reports', Pathology, 52, pp. S106 - S106, http://dx.doi.org/10.1016/j.pathol.2020.01.364
,2019, 'Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”', Genetics in Medicine, 21, pp. 608 - 612, http://dx.doi.org/10.1038/s41436-018-0082-9
,2018, 'Making sense of a haemolysis monitoring and reporting system: A nationwide longitudinal multimethod study of 68 Australian laboratory participant organisations', Clinical Chemistry and Laboratory Medicine, 56, pp. 565 - 573, http://dx.doi.org/10.1515/cclm-2017-0056
,2017, 'Key factors influencing the incidence of hemolysis: A critical appraisal of current evidence', Critical Reviews in Clinical Laboratory Sciences, 54, pp. 59 - 72, http://dx.doi.org/10.1080/10408363.2016.1250247
,2016, 'Current methods of haemolysis detection and reporting as a source of risk to patient safety: A narrative review', Clinical Biochemist Reviews, 27, pp. 143 - 151, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242478/
,2015, 'Ashkenazi Jewish population screening for Tay-Sachs disease: The International and Australian experience', Journal of Paediatrics and Child Health, 51, pp. 271 - 279, http://dx.doi.org/10.1111/jpc.12632
,2015, 'The impact of reporting incidental findings from exome and whole-genome sequencing: Predicted frequencies based on modeling', Genetics in Medicine, 17, pp. 197 - 204, http://dx.doi.org/10.1038/gim.2014.94
,2015, 'Tay-sachs disease: Current perspectives from australia', Application of Clinical Genetics, 8, pp. 19 - 25, http://dx.doi.org/10.2147/tacg.s49628
,2014, 'Ectoparasite infestation patterns, haematology and serum biochemistry of urban-dwelling common brushtail possums', Wildlife Biology, 20, pp. 206 - 216, http://dx.doi.org/10.2981/wlb.00027
,2014, 'Diagnosis of diabetes in anaemias and haemoglobinopathies: Salutary lessons for improved reporting and patient empowerment', Pathology, 46, pp. 371 - 372, http://dx.doi.org/10.1097/PAT.0000000000000103
,2014, 'Automation of molecular-based analyses: a primer on massively parallel sequencing.', Clin Biochem Rev, 35, pp. 169 - 176, https://www.ncbi.nlm.nih.gov/pubmed/25336762
,2014, 'Cardiac health professionals’ attitudes towards genetic testing for hereditary causes of cardiovascular disease', Heart, Lung and Circulation, 23, pp. e6 - e7, http://dx.doi.org/10.1016/j.hlc.2014.07.016
,2013, 'Benchmarking in pathology: Development of a benchmarking complexity unit and associated key performance indicators', Pathology, 45, pp. 66 - 70, http://dx.doi.org/10.1097/PAT.0b013e32835b77c4
,2012, 'Tay sachs disease in Australia: Reduced disease incidence despite stable carrier frequency in Australian jews', Medical Journal of Australia, 197, pp. 652 - 654, http://dx.doi.org/10.5694/mja12.11010
,2012, 'Benchmarking in pathology: Development of an activity-based costing model', Pathology, 44, pp. 644 - 653, http://dx.doi.org/10.1097/PAT.0b013e32835a9ec4
,2011, 'Tay-Sachs disease preconception screening in Australia: Self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421+1G>C mutation in individuals with South African heritage', Journal of Community Genetics, 2, pp. 201 - 209, http://dx.doi.org/10.1007/s12687-011-0057-x
,2010, 'Lost opportunities with Australia's health workforce?', Medical Journal of Australia, 193, pp. 484, http://dx.doi.org/10.5694/j.1326-5377.2010.tb04010.x
,2010, 'A rare granulomatous reaction to Q fever vaccination following influenza vaccination.', The Medical Journal of Australia, 193, pp. 60 - 60
,2007, '2004 Pathway Tunisia Hotel Sidi Driss', Pathway, pp. 1 - 1
,2007, 'IFCC position paper: report of the IFCC taskforce on ethics: introduction and framework.', Clinical Chemistry and Laboratory Medicine : CCLM / FESCC, 45, pp. 1098 - 1104
,, 2007, 'Lonely Planet Tunisia 2007', Lonely Planet Tunisia 2007, pp. 1 - 2
2006, 'Ethical considerations in the use of DNA for the diagnosis of diseases.', Clinical Biochemistry Reviews, 27, pp. 53 - 61
,2005, 'Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program.', Genetics in medicine : official journal of the American College of Medical Genetics, 7, pp. 484 - 494
,