Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia

por Ong, Royston, Edwards, Samantha, Howting, Denise, Kamien, Benjamin, Harrop, Karen, Ravenscroft, Gianina, Davis, Mark, Fietz, Michael, Pachter, Nicholas, Beilby, John, Laing, Nigel
Publicado 2019

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

por Beecroft, Sarah J., Yau, Kyle S., Allcock, Richard J. N., Mina, Kym, Gooding, Rebecca, Faiz, Fathimath, Atkinson, Vanessa J., Wise, Cheryl, Sivadorai, Padma, Trajanoski, Daniel, Kresoje, Nina, Ong, Royston, Duff, Rachael M., Cabrera‐Serrano, Macarena, Nowak, Kristen J., Pachter, Nicholas, Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Laing, Nigel G.
Publicado 2020

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

por Todd, Emily J., Yau, Kyle S., Ong, Royston, Slee, Jennie, McGillivray, George, Barnett, Christopher P., Haliloglu, Goknur, Talim, Beril, Akcoren, Zuhal, Kariminejad, Ariana, Cairns, Anita, Clarke, Nigel F., Freckmann, Mary-Louise, Romero, Norma B., Williams, Denise, Sewry, Caroline A, Colley, Alison, Ryan, Monique M., Kiraly-Borri, Cathy, Sivadorai, Padma, Allcock, Richard J.N., Beeson, David, Maxwell, Susan, Davis, Mark R., Laing, Nigel G., Ravenscroft, Gianina
Publicado 2015

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