By Professor Leslie Burnett

Conference Abstracts

Zhang J; Gray P; Ting Y-L; Khayat M; Enthoven K; Dai P; Burnett L; Johnson B; Tangye S; Aradhya S; Siggs O, 2024, '95 Patterns and presentations of mosaic variation in monogenic acquired errors of immunity', in Clinical Immunology, Elsevier BV, Vol. 262, pp. 110037 - 110037, http://dx.doi.org/10.1016/j.clim.2024.110037

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', in Clinica Chimica Acta, Elsevier BV, Vol. 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', in Pathology, Elsevier BV, Vol. 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', in Clinica Chimica Acta, Elsevier BV, Vol. 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', in Genetics in Medicine Open, Elsevier BV, Vol. 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', in Pathology, Elsevier BV, Vol. 56, pp. S96 - S97, http://dx.doi.org/10.1016/j.pathol.2023.12.325

Burnett L; Gruzin M; Lee E; Hobbs M; Poll S; Faulkner N; Aradhya S, 2023, 'The myth of the "Genetic Wallflower": in reproductive carrier screening, for every Papageno there is always a Papagena', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, SCOTLAND, Glasgow, Vol. 32, pp. 758 - 758, presented at 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), SCOTLAND, Glasgow, 10 June 2023 - 13 June 2023

Dai P; Honda A; Law M; Burnett L; Phan TG, 2022, 'Efficacy of next generation sequencing data reanalysis in unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis', in GENETICS IN MEDICINE, ELSEVIER SCIENCE INC, TN, Nashville, Vol. 24, pp. S211 - S211, presented at ACMG Annual Clinical Genetics Meeting, TN, Nashville, 22 March 2022 - 26 March 2022, http://dx.doi.org/10.1016/j.gim.2022.01.373

Dai P; Hollway G; Ohnesorg T; Hobbs M; Reeves J; Gray P; Wong M; Copty J; Enthoven K; Kummerfeld S; Monger S; Giannoulatou E; Lin M-W; Young M-A; Tangye S; Burnett L; Tri GP, 2021, 'RE-ANALYSIS OF WHOLE GENOME SEQUENCING DATA IN PATIENTS WITH UNDIAGNOSED INBORN ERRORS OF IMMUNITY', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 51, pp. 23 - 23, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000713717300054&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Burnett L; Statham AL; Lundie BA; Lee E; Poulet A, 2019, 'Man vs Machine: Implementing clinically validated automated variant prioritisation with diagnostic performance that equals human experts', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, SWEDEN, Gothenburg, Vol. 27, pp. 1079 - 1080, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313900083&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Tri GP; Tangye S; Wong M; Gray P; Batten M; Goodnow C; Burnett L, 2018, 'CLINICAL IMPACT OF WHOLE GENOME SEQUENCING ON THE DIAGNOSIS AND MANAGEMENT OF PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASES - THE CLINICAL IMMUNOGENOMICS RESEARCH CONSORTIUM AUSTRALIA (CIRCA) EXPERIENCE', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 48, pp. 29 - 29, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000449673000079&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Lundie B; Minoche AE; Gayevskiy V; Lee E; Ewans L; Hollway G; Ohnesorg T; Sherstyuk A; Dinger M; Cowley MJ; Burnett L, 2018, 'Clinical utility of copy number variant (CNV) detection by whole genome sequencing (WGS)', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 502 - 502, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313104146&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Lundie B; Ewans L; Lee E; Hollway G; Ohnesorg T; Statham A; Burnett L; Young M; Taouk H; Richardson E; Dinger M, 2018, 'Utility of clinical Whole Genome Sequencing (WGS): diagnostic success factors now and into the future', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 542 - 542, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313104228&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Hollway G; Bakshi M; Colley A; Ewans L; Ohnesorg T; Lee E; Kirk E; Lau C; Wu K; Richardson E; Statham A; Burnett L; Lundie B; Dinger M, 2018, 'Whole genome sequencing in a clinical setting is expanding our understanding of the phenotypic spectrum of rare diseases', in HUMAN GENOMICS, BIOMED CENTRAL LTD, Vol. 12, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000427728400128&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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