Search Results - "Ong, Royston W."

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita by 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.

“…Arthrogryposis multiplex congenita is defined by the presence of contractures across two or more major joints and results from reduced or absent fetal…”
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Genetic neuromuscular disorders: what is the best that we can do? by Laing, Nigel G, Ong, Royston W., Ravenscroft, Gianina

“…•Genetic neuromuscular disorders cause considerable early morbidity and mortality.•Current genetic sequencing technologies can identify variants in thousands…”
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2 by 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

“…Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more than 50% of affected individuals…”
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Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy by Ong, Royston W, AlSaman, Abdulaziz, Selcen, Duygu, Arabshahi, Arash, Yau, Kyle S, Ravenscroft, Gianina, Duff, Rachael M, Atkinson, Vanessa, Allcock, Richard J, Laing, Nigel G

“…To identify the molecular cause of the disease, either in one of the eight known nemaline myopathy genes not yet sequenced in the proband, or in a novel gene…”
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