The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling

por Ding, Lucy-Enid, Burnett, Leslie, Chesher, Douglas
Publicado 2015

Tay-Sachs disease: current perspectives from Australia

por Lew, Raelia M, Burnett, Leslie, Proos, Anné L, Delatycki, Martin B
Publicado 2015

Hyper-IgM and acquired C1q complement deficiency in a patient with de novo  ATM mutation

por Lee, Adrian Y S, Dai, Pei, Burnett, Leslie, Wei, Xiumei, Kakar, Fakhria, Ohnesorg, Thomas, Lin, Ming-Wei
Publicado 2023

Evaluating the model of offering expanded genetic carrier screening to high school students within the Sydney Jewish community

por Barlow-Stewart, Kristine, Bardsley, Kayley, Elan, Elle, Fleming, Jane, Berman, Yemima, Fleischer, Ron, Recsei, Krista, Goldberg, Daniel, Tucker, John, Burnett, Leslie
Publicado 2021

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

por Minoche, Andre E., Lundie, Ben, Peters, Greg B., Ohnesorg, Thomas, Pinese, Mark, Thomas, David M., Zankl, Andreas, Roscioli, Tony, Schonrock, Nicole, Kummerfeld, Sarah, Burnett, Leslie, Dinger, Marcel E., Cowley, Mark J.
Publicado 2021

Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection

por Terrill, Bronwyn, McKnight, Lauren, Pearce, Angela, Gordon, Heather, Lo, William, Lee, I-Chieh Jennifer, Runiewicz, Monica, Palmer, Alex, Andrews, Lesley, Kirk, Edwin, Goldberg, Daniel, Tucker, John, Murray, David, Kaplan, Warren, Kummerfeld, Sarah, Burnett, Leslie
Publicado 2023

Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper

por Cousens, Nicole E, Tiller, Jane, Meiser, Bettina, Barlow-Stewart, Kristine, Rowley, Simone, Ko, Yi-An, Mahale, Sakshi, Campbell, Ian G, Kaur, Rajneesh, Bankier, Agnes, Burnett, Leslie, Jacobs, Chris, James, Paul A, Trainer, Alison, Neil, Suzanne, Delatycki, Martin B, Andrews, Lesley
Publicado 2021

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

por Archibald, Alison D., McClaren, Belinda J., Caruana, Jade, Tutty, Erin, King, Emily A., Halliday, Jane L., Best, Stephanie, Kanga-Parabia, Anaita, Bennetts, Bruce H., Cliffe, Corrina C., Madelli, Evanthia O., Ho, Gladys, Liebelt, Jan, Long, Janet C., Braithwaite, Jeffrey, Kennedy, Jillian, Massie, John, Emery, Jon D., McGaughran, Julie, Marum, Justine E., Boggs, Kirsten, Barlow-Stewart, Kristine, Burnett, Leslie, Dive, Lisa, Freeman, Lucinda, Davis, Mark R., Downes, Martin J., Wallis, Mathew, Ferrie, Monica M., Pachter, Nicholas, Scuffham, Paul A., Casella, Rachael, Allcock, Richard J. N., Ong, Royston, Edwards, Samantha, Righetti, Sarah, Lunke, Sebastian, Lewis, Sharon, Walker, Susan P., Boughtwood, Tiffany F., Hardy, Tristan, Newson, Ainsley J., Kirk, Edwin P., Laing, Nigel G., Delatycki, Martin B.
Publicado 2022