A flexible computational pipeline for research analyses of unsolved clinical exome cases

by Timo Lassmann, Richard W. Francis, Alexia Weeks, Dave Tang, Sarra E. Jamieson, Stephanie Broley, Hugh J. S. Dawkins, Lauren Dreyer, Jack Goldblatt, Tudor Groza, Benjamin Kamien, Cathy Kiraly-Borri, Fiona McKenzie, Lesley Murphy, Nicholas Pachter, Gargi Pathak, Cathryn Poulton, Amanda Samanek, Rachel Skoss, Jennie Slee, Sharron Townshend, Michelle Ward, Gareth S. Baynam, Jenefer M. Blackwell
Published 2020-12-01

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

by Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Ashley Buckle, Priscillia Siswara, David J. Amor, Jeffrey Mann, Jason Pinner, Alison Colley, Meredith Wilson, Rani Sachdev, George McGillivray, Matthew Edwards, Edwin Kirk, Felicity Collins, Kristi Jones, Juliet Taylor, Ian Hayes, Elizabeth Thompson, Christopher Barnett, Eric Haan, Mary-Louise Freckmann, Anne Turner, Susan White, Ben Kamien, Alan Ma, Fiona Mackenzie, Gareth Baynam, Cathy Kiraly-Borri, Michael Field, Tracey Dudding-Byth, Elizabeth M. Algar
Published 2018-08-01

Initiating an undiagnosed diseases program in the Western Australian public health system

by Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt
Published 2017-05-01