By Professor Leslie Burnett

Journal articles

Mallawaarachchi AC; Fowles L; Wardrop L; Wood A; O'Shea R; Biros E; Harris T; Alexander SI; Bodek S; Boudville N; Burke J; Burnett L; Casauria S; Chadban S; Chakera A; Crafter S; Dai P; De Fazio P; Faull R; Honda A; Huntley V; Jahan S; Jayasinghe K; Jose M; Leaver A; MacShane M; Madelli EO; Nicholls K; Pawlowski R; Rangan G; Snelling P; Soraru J; Sundaram M; Tchan M; Valente G; Wallis M; Wedd L; Welland M; Whitlam J; Wilkins EJ; McCarthy H; Simons C; Quinlan C; Patel C; Stark Z; Mallett AJ, 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

Austin R; Brown JS; Casauria S; Madelli EO; Mattiske T; Boughtwood T; Metke A; Davis A; Horton AE; Winlaw D; Das D; Soka M; Giannoulatou E; Rath EM; Haan E; Blue GM; Vohra J; Atherton JJ; van Spaendonck-Zwarts K; Cox K; Burnett L; Wallis M; Haas M; Quinn MCJ; Pachter N; Poplawski NK; Stark Z; Bagnall RD; Weintraub RG; Pantaleo SJ; Lunke S; De Fazio P; Thompson T; James P; Chang Y; Fatkin D; Macciocca I; Ingles J; Dunwoodie SL; Semsarian C; McGaughran J; Ades L; Enriquez A; McLean A; Smyth R; Alankarage D; McNamara J; Morgan almog ; Fear V; Medi C; Al-Shinnag M; Fine M; Sy R; Finlay K; Milnes D; Tang D; Garza D; Milward M; Taylor J; Morrish A; Taylor S; Barnett C; Gongolidis L; Morwood J; Tchan M; Gray B; Mountain H; Bodek S; Greer C; Mowat D; Thorpe J; Boggs K; Ng CA; Trainer A; Bogwitz M; Haas M; Nowak N; Trivedi G; Hanna B; Martinez NN; Valente G; Bray A; Harvey R; Ohanian M; Brion MJ; Hayward J; O'Sullivan S; Vandenberg J; Brown J; Herrera C; Overkov A; Verma K; Richardson RB; Hill A; Vidgen M; Hollingsworth G; Patel C; Burns C; Hollway G; Perrin M, 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

Li MWY; Burnett L; Dai P; Avery DT; Noori T; Voskoboinik I; Shah PR; Tatian A; Tangye SG; Gray PE; Ma CS, 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

Lechpammer M; Todd A; Tang V; Morningstar T; Borowsky A; Shahlaie K; Kintner JA; McPherson JD; Bishop JW; Fereidouni F; Harmany ZT; Coley N; Zagzag D; Wong JWH; Tao J; Hesson LB; Burnett L; Levenson R, 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

Gruzin MJ; Hobbs M; Poll S; Muckian M; Tzoneva G; Shuldiner AR; Wilson JF; Alabdi L; Alkuraya F; Knezovich J; Aradhya S; Burnett L, 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

Gruzin MJ; Taouk H; Leon R. MJ; Richardson E; Young S; Burnett L, 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

Gruzin MJ; Taouk H; Leon J; Richardson E; Young S; Burnett L, 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

Burnett L; Gruzin M; Hobbs M; Poll S; Knezovich J; Aguilar S; Ellsworth R; Faulkner N; Aradhya S, 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

Gruzin MJ; Hobbs M; Poll S; Knezovich J; Aradhya S; Burnett L, 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

Truty R; Rojahn S; Ouyang K; Kautzer C; Kennemer M; Pineda-Alvarez D; Johnson B; Stafford A; Basel-Salmon L; Saitta S; Slavotinek A; Chandrasekharappa SC; Suarez CJ; Burnett L; Nussbaum RL; Aradhya S, 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

Terrill B; McKnight L; Pearce A; Gordon H; Lo W; Lee ICJ; Runiewicz M; Palmer A; Andrews L; Kirk E; Goldberg D; Tucker J; Murray D; Kaplan W; Kummerfeld S; Burnett L, 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

Tiller JM; Cousens NE; Kaur R; Rowley S; Ko YA; Mahale S; Bankier A; Meiser B; Barlow-Stewart K; Burnett L; Jacobs C; James P; Trainer A; Neil S; Campbell IG; Andrews L; Delatycki M, 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

Lee AYS; Dai P; Burnett L; Wei X; Kakar F; Ohnesorg T; Lin MW, 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

Aradhya S; Roczo N; Burnett L; Morales A; Johnson B; Vatta M; Facio F; Fresard L; McKnight D; Kobayashi Y; Reuter J; Nykamp K; Colavin A, 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

Archibald AD; McClaren BJ; Caruana J; Tutty E; King EA; Halliday JL; Best S; Kanga-Parabia A; Bennetts BH; Cliffe CC; Madelli EO; Ho G; Liebelt J; Long JC; Braithwaite J; Kennedy J; Massie J; Emery JD; McGaughran J; Marum JE; Boggs K; Barlow-Stewart K; Burnett L; Dive L; Freeman L; Davis MR; Downes MJ; Wallis M; Ferrie MM; Pachter N; Scuffham PA; Casella R; Allcock RJN; Ong R; Edwards S; Righetti S; Lunke S; Lewis S; Walker SP; Boughtwood TF; Hardy T; Newson AJ; Kirk EP; Laing NG; Delatycki MB, 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

Dai P; Honda A; Ewans L; McGaughran J; Burnett L; Law M; Phan TG, 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

Barlow-Stewart K; Bardsley K; Elan E; Fleming J; Berman Y; Fleischer R; Recsei K; Goldberg D; Tucker J; Burnett L, 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

Tangye SG; Gray PE; Pillay BA; Yap JY; Figgett WA; Reeves J; Kummerfeld SK; Stoddard J; Uzel G; Jing H; Su HC; Campbell DE; Sullivan A; Burnett L; Peake J; Ma CS, 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

Bournazos AM; Riley LG; Bommireddipalli S; Ades L; Akesson LS; Al-Shinnag M; Alexander SI; Archibald AD; Balasubramaniam S; Berman Y; Beshay V; Boggs K; Bojadzieva J; Brown NJ; Bryen SJ; Buckley MF; Chong B; Davis MR; Dawes R; Delatycki M; Donaldson L; Downie L; Edwards C; Edwards M; Engel A; Ewans LJ; Faiz F; Fennell A; Field M; Freckmann ML; Gallacher L; Gear R; Goel H; Goh S; Goodwin L; Hanna B; Harraway J; Higgins M; Ho G; Hopper BK; Horton AE; Hunter MF; Huq AJ; Josephi-Taylor S; Joshi H; Kirk E; Krzesinski E; Kumar KR; Lemckert F; Leventer RJ; Lindsey-Temple SE; Lunke S; Ma A; Macaskill S; Mallawaarachchi A; Marty M; Marum JE; McCarthy HJ; Menezes MP; McLean A; Milnes D; Mohammad S; Mowat D; Niaz A; Palmer EE; Patel C; Patel SG; Phelan D; Pinner JR; Rajagopalan S; Regan M; Rodgers J; Rodrigues M; Roxburgh RH; Sachdev R; Roscioli T; Samarasekera R; Sandaradura SA; Savva E; Schindler T; Shah M; Sinnerbrink IB; Smith JM; Smith RJ; Springer A; Stark Z; Strom SP; Sue CM; Tan K; Tan TY; Tantsis E; Tchan MC; Thompson BA; Trainer AH; van Spaendonck-Zwarts K; Walsh R; Warwick L; White S; White SM; Williams MG, 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

Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, 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

Gibson J; Fieldhouse R; Chan MMY; Sadeghi-Alavijeh O; Burnett L; Izzi V; Persikov AV; Gale DP; Storey H; Savige J, 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

Cousens NE; Tiller J; Meiser B; Barlow-Stewart K; Rowley S; Ko YA; Mahale S; Campbell IG; Kaur R; Bankier A; Burnett L; Jacobs C; James PA; Trainer A; Neil S; Delatycki MB; Andrews L, 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

Mallawaarachchi AC; Lundie B; Hort Y; Schonrock N; Senum SR; Gayevskiy V; Minoche AE; Hollway G; Ohnesorg T; Hinchcliffe M; Patel C; Tchan M; Mallett A; Dinger ME; Rangan G; Cowley MJ; Harris PC; Burnett L; Shine J; Furlong TJ, 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

Pillay BA; Fusaro M; Gray PE; Statham AL; Burnett L; Bezrodnik L; Kane A; Tong W; Abdo C; Winter S; Chevalier S; Levy R; Masson C; Schmitt Y; Bole C; Malphettes M; Macintyre E; de Villartay JP; Ziegler JB; Smart JM; Peake J; Aghamohammadi A; Hammarström L; Abolhassani H; Picard C; Fischer A; Latour S; Neven B; Tangye SG; Ma CS, 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

Burnett L, 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

Phan TG; Gray PE; Wong M; Macintosh R; Burnett L; Tangye SG, 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

Burnett L, 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

Taouk H; Leon R. MJ; Richardson E; Young S; Burnett L, 2020, 'Measuring the quality of pathology reports', Pathology, 52, pp. S106 - S106, http://dx.doi.org/10.1016/j.pathol.2020.01.364

Kirk EP; Barlow-Stewart K; Selvanathan A; Josephi-Taylor S; Worgan L; Rajagopalan S; Cowley MJ; Gayevskiy V; Bittles A; Burnett L; Elakis G; Lo W; Buckley M; Colley A; Roscioli T, 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

Li L; Vecellio E; Gay S; Lake R; MacKay M; Burnett L; Chesher D; Braye S; Badrick T; Westbrook JI; Georgiou A, 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

McCaughey EJ; Vecellio E; Lake R; Li L; Burnett L; Chesher D; Braye S; Mackay M; Gay S; Badrick T; Westbrook J; Georgiou A, 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

McCaughey EJ; Vecellio E; Lake R; Li L; Burnett L; Chesher D; Braye S; Mackay M; Gay S; Badrick TC; Westbrook JI; Georgiou A, 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/

Lew RM; Burnett L; Proos AL; Barlow-Stewart K; Delatycki MB; Bankier A; Aizenberg H; Field MJ; Berman Y; Fleischer R; Fietz M, 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

Ding LE; Burnett L; Chesher D, 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

Lew RM; Burnett L; Proos AL; Delatycki MB, 2015, 'Tay-sachs disease: Current perspectives from australia', Application of Clinical Genetics, 8, pp. 19 - 25, http://dx.doi.org/10.2147/tacg.s49628

Webster KN; Hill NJ; Burnett L; Deane EM, 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

Campbell B; Burnett L, 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

Nguyen L; Burnett L, 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

Burcher S; Berman Y; Burnett L; Proos A; Clifton-Bligh R; Dwight T, 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

Neil A; Pfeffer S; Burnett L, 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

Lew RM; Proos AL; Burnett L; Delatycki M; Bankier A; Fietz MJ, 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

Burnett LB; Wilson RD; Pfeffer S; Lowry J; BIPAC , 2012, 'Benchmarking in pathology: Development of an activity-based costing model', Pathology, 44, pp. 644 - 653, http://dx.doi.org/10.1097/PAT.0b013e32835a9ec4

Lew R; Burnett L; Proos A, 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

Badrick T; Burnett L; Graham PE; Vervaart PP, 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

Burnett DL; Burnett L, 2010, 'A rare granulomatous reaction to Q fever vaccination following influenza vaccination.', The Medical Journal of Australia, 193, pp. 60 - 60

Burnett L, 2007, '2004 Pathway Tunisia Hotel Sidi Driss', Pathway, pp. 1 - 1

Burnett L; McQueen MJ; Jonsson JJ; Torricelli F; Ethics IFCCTO, 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', , pp. 1 - 2

Barlow-Stewart K; Burnett L, 2006, 'Ethical considerations in the use of DNA for the diagnosis of diseases.', Clinical Biochemistry Reviews, 27, pp. 53 - 61

Warren E; Anderson R; Proos AL; Burnett L; Barlow-Stewart K; Hall J, 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

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