By Professor Leslie Burnett

Conference Abstracts

Dai P; Honda A; Law M; Burnett L; Phan TG, 2022, 'eP338: 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, Vol. 24, pp. s211, 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, SPRINGERNATURE, 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

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, SPRINGERNATURE, 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

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

Preprints

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, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data, http://dx.doi.org/10.1101/2020.06.30.20143453

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