High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report

by Aisling B. Mc Glacken-Byrne, David Prentice, Danial Roshandel, Michael R. Brown, Philip Tuch, Kyle S.-Y. Yau, Padma Sivadorai, Mark R. Davis, Nigel G. Laing, Fred K. Chen
Published 2020-02-01

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

by Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock, Kym Mina, Rebecca Gooding, Fathimath Faiz, Vanessa J. Atkinson, Cheryl Wise, Padma Sivadorai, Daniel Trajanoski, Nina Kresoje, Royston Ong, Rachael M. Duff, Macarena Cabrera‐Serrano, Kristen J. Nowak, Nicholas Pachter, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Nigel G. Laing
Published 2020-03-01