Get started
Author

Leslie Burnett

Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome
2021 · Joel Gibson, Rachel Fieldhouse, et al. · Journal of the American Society of Nephrology · 218
A pilot study on the percutaneous absorption of microfine titanium dioxide from sunscreens
1996 · Mei‐Heng Tan, Chris A Commens, et al. · Australasian Journal of Dermatology · 199
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
2021 · Adam M. Bournazos, Lisa G. Riley, et al. · Genetics in Medicine · 97
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis
2022 · Pei Dai, Andrew Honda, et al. · Genetics in Medicine · 79
Nationwide, Couple-Based Genetic Carrier Screening
2024 · Edwin P. Kirk, Martin B. Delatycki, et al. · New England Journal of Medicine · 75
PDF
Error rates in Australian chemical pathology laboratories
1996 · Mounira Khoury, Leslie Burnett, et al. · The Medical Journal of Australia · 73
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
2021 · Andre E Minoche, Ben Lundie, et al. · Genome Medicine · 70
PDF
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
2021 · Amali C. Mallawaarachchi, Ben Lundie, et al. · European Journal of Human Genetics · 67
PDF
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation
2022 · Alison D. Archibald, Belinda J. McClaren, et al. · Journal of Personalized Medicine · 61
PDF
Hematological indices in an older population sample: derivation of healthy reference values.
1998 · C W Tsang, R Lazarus, et al. · PubMed · 49
The frequency of founder mutations in theBRCA1,BRCA2, andAPC genes in australian Ashkenazi Jews
2001 · Anita Y. Bahar, Peter J. Taylor, et al. · Cancer · 48
PDF
Tay-Sachs disease: current perspectives from Australia
2015 · Raelia Lew, Leslie Burnett, et al. · The Application of Clinical Genetics · 47
PDF
The "GeneTrustee": a universal identification system that ensures privacy and confidentiality for human genetic databases.
2003 · Leslie Burnett, Kris Barlow-Stewart, et al. · PubMed · 44
Plasma fibrinogen and other cardiovascular disease risk factors and cataract
1999 · Mark E. Goodrich, Robert G. Cumming, et al. · Ophthalmic Epidemiology · 38
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency
2020 · Bethany A. Pillay, Mathieu Fusaro, et al. · Journal of Clinical Investigation · 37
PDF
Key factors influencing the incidence of hemolysis: A critical appraisal of current evidence
2016 · Euan James McCaughey, Elia Vecellio, et al. · Critical Reviews in Clinical Laboratory Sciences · 35
A shkenazi J ewish population screening for T ay– S achs disease: The International and A ustralian experience
2014 · Raelia M Lew, Leslie Burnett, et al. · Journal of Paediatrics and Child Health · 31
The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling
2014 · Lucy-Enid Ding, Leslie Burnett, et al. · Genetics in Medicine · 30
Haematology and Serum Biochemistry of the Tammar Wallaby, Macropus eugenii
2002 · S. MCKENZIE, E. M. DEANE, et al. · Comparative Clinical Pathology · 29
Improving the quality of information on pathology request forms
2004 · Leslie Burnett, Douglas Chesher, et al. · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · 28
PDF
The Tay‐Sachs disease prevention program in Australia: Sydney pilot study
1995 · Leslie Burnett, Anné L Proos, et al. · The Medical Journal of Australia · 27
APPENDIX A The SV40 Nucleotide Sequence
1980 · Andrew R. Buchman, Leslie Burnett, et al. · Cold Spring Harbor Monograph Archive · 27
Current Methods of Haemolysis Detection and Reporting as a Source of Risk to Patient Safety: a Narrative Review.
2016 · Euan J McCaughey, Elia Vecellio, et al. · PubMed · 26
PDF
IFCC Position Paper: Report of the IFCC Taskforce on Ethics: Introduction and framework
2007 · Leslie Burnett, Matthew J. McQueen, et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 26
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals
2023 · Rebecca Truty, Susan Rojahn, et al. · The American Journal of Human Genetics · 25
PDF
Works count: 128
Citation count: 2,055
H-index: 25
I10-index: 46
Year
Topic
Type