Friedreich ataxia- pathogenesis and implications for therapies

by Martin B. Delatycki, Sanjay I. Bidichandani
Published 2019-12-01

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia.

by Roger E Peverill, Lesley Donelan, Louise A Corben, Martin B Delatycki
Published 2018-01-01

Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity.

by Roger E Peverill, Giovanni Romanelli, Lesley Donelan, Rhonda Hassam, Louise A Corben, Martin B Delatycki
Published 2019-01-01

Recent advances in the detection of repeat expansions with short-read next-generation sequencing [version 1; referees: 3 approved]

by Melanie Bahlo, Mark F Bennett, Peter Degorski, Rick M Tankard, Martin B Delatycki, Paul J Lockhart
Published 2018-06-01

Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia.

by Lingli Li, Lucille Voullaire, Chiranjeevi Sandi, Mark A Pook, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero
Published 2013-01-01

Long range regulation of human FXN gene expression.

by Novita Puspasari, Simone M Rowley, Lavinia Gordon, Paul J Lockhart, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero
Published 2011-01-01

Parkin Co-regulated Gene (PACRG) is regulated by the ubiquitin–proteasomal system and is present in the pathological features of parkinsonian diseases

by Juliet M. Taylor, Yun Ju C. Song, Yue Huang, Matthew J. Farrer, Martin B. Delatycki, Glenda M. Halliday, Paul J. Lockhart
Published 2007-08-01

Bivariate mixture models for the joint distribution of repeated serum ferritin and transferrin saturation measured 12 years apart in a cohort of healthy middle-aged Australians.

by Christine E McLaren, Wen-Pin Chen, Nadine A Bertalli, Martin B Delatycki, Graham G Giles, Dallas R English, John L Hopper, Katrina J Allen, Lyle C Gurrin
Published 2019-01-01

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

by Krysta J. Trevis, Natasha J. Brown, Cherie C. Green, Paul J. Lockhart, Tarishi Desai, Tanya Vick, Vicki Anderson, Emmanuel P. K. Pua, Melanie Bahlo, Martin B. Delatycki, Ingrid E. Scheffer, Sarah J. Wilson
Published 2020-10-01

Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants

by Krithika Murali, Tanya M. Dwarte, Mehrdad Nikfarjam, Katherine M. Tucker, Rhys B. Vaughan, Marios Efthymiou, Allison Collins, Allan D. Spigelman, Lucinda Salmon, Amber L. Johns, David B. Williams, Martin B. Delatycki, Thomas John, Alina Stoita
Published 2021-09-01

Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants

by Krithika Murali, Tanya M. Dwarte, Mehrdad Nikfarjam, Katherine M. Tucker, Rhys B. Vaughan, Marios Efthymiou, Allison Collins, Allan D. Spigelman, Lucinda Salmon, Amber L. Johns, David B. Williams, Martin B. Delatycki, Thomas John, Alina Stoita
Published 2021-08-01

Utility and limitations of Hepascore and transient elastography to detect advanced hepatic fibrosis in HFE hemochromatosis

by Sim Yee Ong, Tiffany Khoo, Amanda J. Nicoll, Lyle Gurrin, Thomas Worland, Puraskar Pateria, Louise E. Ramm, Adam Testro, Gregory J. Anderson, Richard Skoien, Lawrie W. Powell, Grant A. Ramm, John K. Olynyk, Martin B. Delatycki
Published 2021-07-01

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

by Martin B Delatycki, Chris Jacobs, Bettina Meiser, Ian G Campbell, Lesley Andrews, Paul A James, Alison Trainer, AGNES BANKIER, Kristine Barlow-Stewart, Jane Tiller, Nicole E Cousens, Simone Rowley, Sakshi Mahale, Rajneesh Kaur, Leslie Burnett, Suzanne Neil
Published 2021-06-01

Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort

by Christian Rummey, John M. Flynn, Louise A. Corben, Martin B. Delatycki, George Wilmot, Sub H. Subramony, Khalaf Bushara, Antoine Duquette, Christopher M. Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine D. Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch
Published 2021-06-01

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

by Natalie B. Tan, Rachel Stapleton, Zornitza Stark, Martin B. Delatycki, Alison Yeung, Matthew F. Hunter, David J. Amor, Natasha J. Brown, Chloe A. Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul Fernandez, Justine Marum, Dean Phelan, Lynn S. Pais, Susan M. White, Sebastian Lunke, Tiong Y. Tan
Published 2020-11-01

Missense variant contribution to USP9X-female syndrome

by Lachlan A. Jolly, Euan Parnell, Alison E. Gardner, Mark A. Corbett, Luis A. Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C. Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, Simon Sadedin, Susan M. White, Martin B. Delatycki, Tjitske Kleefstra, Sébastien Küry, Alfredo Brusco, Elena Sukarova-Angelovska, Slavica Trajkova, Sehoun Yoon, Stephen A. Wood, Michael Piper, Peter Penzes, Jozef Gecz
Published 2020-12-01