Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

av Marston, Steven, Memo, Massimiliano, Messer, Andrew, Papadaki, Maria, Nowak, Kristen, McNamara, Elyshia, Ong, Royston, El-Mezgueldi, Mohammed, Li, Xiaochuan, Lehman, William
Publicerad 2013

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

av Ong, Royston, Edwards, Samantha, Howting, Denise, Kamien, Benjamin, Harrop, Karen, Ravenscroft, Gianina, Davis, Mark, Fietz, Michael, Pachter, Nicholas, Beilby, John, Laing, Nigel
I publikationen BMJ Open (2019)

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

av Ravenscroft, Gianina, Zaharieva, Irina T, Bortolotti, Carlo A, Lambrughi, Matteo, Pignataro, Marcello, Borsari, Marco, Sewry, Caroline A, Phadke, Rahul, Haliloglu, Goknur, Ong, Royston, Goullée, Hayley, Whyte, Tamieka, Consortium, UK10K, Manzur, Adnan, Talim, Beril, Kaya, Ulkuhan, Osborn, Daniel P S, Forrest, Alistair R R, Laing, Nigel G, Muntoni, Francesco
I publikationen Hum Mol Genet (2018)

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

av Ravenscroft, Gianina, Nolent, Flora, Rajagopalan, Sulekha, Meireles, Ana M., Paavola, Kevin J., Gaillard, Dominique, Alanio, Elisabeth, Buckland, Michael, Arbuckle, Susan, Krivanek, Michael, Maluenda, Jérome, Pannell, Stephen, Gooding, Rebecca, Ong, Royston W., Allcock, Richard J., Carvalho, Ellaine D.F., Carvalho, Maria D.F., Kok, Fernando, Talbot, William S., Melki, Judith, Laing, Nigel G.
I publikationen Am J Hum Genet (2015)

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

av 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.
I publikationen Ann Clin Transl Neurol (2020)

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

av Kirk, Edwin P., Ong, Royston, Boggs, Kirsten, Hardy, Tristan, Righetti, Sarah, Kamien, Ben, Roscioli, Tony, Amor, David J., Bakshi, Madhura, Chung, Clara W. T., Colley, Alison, Jamieson, Robyn V., Liebelt, Jan, Ma, Alan, Pachter, Nicholas, Rajagopalan, Sulekha, Ravine, Anja, Wilson, Meredith, Caruana, Jade, Casella, Rachael, Davis, Mark, Edwards, Samantha, Archibald, Alison, McGaughran, Julie, Newson, Ainsley J., Laing, Nigel G., Delatycki, Martin B.
I publikationen Eur J Hum Genet (2020)

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

av 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
I publikationen Orphanet J Rare Dis (2015)

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

av Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan
I publikationen Am J Hum Genet (2018)

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

av Senderek, Jan, Lassuthova, Petra, Kabzińska, Dagmara, Abreu, Lisa, Baets, Jonathan, Beetz, Christian, Braathen, Geir J., Brenner, David, Dalton, Joline, Dankwa, Lois, Deconinck, Tine, De Jonghe, Peter, Dräger, Bianca, Eggermann, Katja, Ellis, Melina, Fischer, Carina, Stojkovic, Tanya, Herrmann, David N., Horvath, Rita, Høyer, Helle, Iglseder, Stephan, Kennerson, Marina, Kinslechner, Katharina, Kohler, Jennefer N., Kurth, Ingo, Laing, Nigel G., Lamont, Phillipa J., Wolfgang N., Löscher, Ludolph, Albert, Marques, Wilson, Nicholson, Garth, Ong, Royston, Petri, Susanne, Ravenscroft, Gianina, Rebelo, Adriana, Ricci, Giulia, Rudnik-Schöneborn, Sabine, Schirmacher, Anja, Schlotter-Weigel, Beate, Schoels, Ludger, Schüle, Rebecca, Synofzik, Matthis, Francou, Bruno, Strom, Tim M., Wagner, Johannes, Walk, David, Wanschitz, Julia, Weinmann, Daniela, Weishaupt, Jochen, Wiessner, Manuela, Windhager, Reinhard, Young, Peter, Züchner, Stephan, Toegel, Stefan, Seeman, Pavel, Kochański, Andrzej, Auer-Grumbach, Michaela
I publikationen Neurology (2020)