K
Kyle S. Yau
Researcher at University of Western Australia
Publications - 16
Citations - 905
Kyle S. Yau is an academic researcher from University of Western Australia. The author has contributed to research in topics: Congenital myopathy & Nemaline myopathy. The author has an hindex of 10, co-authored 16 publications receiving 766 citations. Previous affiliations of Kyle S. Yau include Harry Perkins Institute of Medical Research.
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Journal ArticleDOI
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Gianina Ravenscroft,Satoko Miyatake,Vilma Lotta Lehtokari,Emily J. Todd,Pauliina Vornanen,Kyle S. Yau,Yukiko K. Hayashi,Noriko Miyake,Yoshinori Tsurusaki,Hiroshi Doi,Hirotomo Saitsu,Hitoshi Osaka,Sumimasa Yamashita,Takashi Ohya,Yuko Sakamoto,Eriko Koshimizu,Shintaro Imamura,Michiaki Yamashita,Kazuhiro Ogata,Masaaki Shiina,Robert J. Bryson-Richardson,Raquel Vaz,Ozge Ceyhan,Catherine A. Brownstein,Lindsay C. Swanson,Sophie Monnot,Norma B. Romero,Helge Amthor,Nina Kresoje,Padma Sivadorai,Cathy Kiraly-Borri,Goknur Haliloglu,Beril Talim,Diclehan Orhan,Gülsev Kale,Adrian Charles,Victoria A. Fabian,Mark R. Davis,Martin Lammens,Caroline Sewry,Adnan Y. Manzur,Francesco Muntoni,Nigel F. Clarke,Kathryn N. North,Enrico Bertini,Yoram Nevo,Ekkhard Willichowski,Inger Elisabeth Silberg,Haluk Topaloglu,Alan H. Beggs,Richard J.N. Allcock,Ichizo Nishino,Carina Wallgren-Pettersson,Naomichi Matsumoto,Nigel G. Laing +54 more
TL;DR: Screening of KLHL40 should be a priority in individuals who are affected by autosomal-recessive NEM and who present with prenatal symptoms and/or contractures and in all Japanese individuals with severe NEM.
Journal ArticleDOI
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Vandana Gupta,Gianina Ravenscroft,Ranad Shaheen,Emily J. Todd,Lindsay C. Swanson,Masaaki Shiina,Kazuhiro Ogata,Cynthia P. Hsu,Nigel F. Clarke,Basil T. Darras,Michelle A. Farrar,Amal M. Hashem,Nicholas Manton,Francesco Muntoni,Kathryn N. North,Sarah A. Sandaradura,Ichizo Nishino,Yukiko K. Hayashi,Caroline Sewry,Elizabeth Thompson,Elizabeth Thompson,Kyle S. Yau,Catherine A. Brownstein,Timothy W. Yu,Richard J.N. Allcock,Mark R. Davis,Carina Wallgren-Pettersson,Naomichi Matsumoto,Fowzan S. Alkuraya,Nigel G. Laing,Alan H. Beggs +30 more
TL;DR: These studies expand the genetic heterogeneity of NM and implicate a critical role of BTB-Kelch family members in maintenance of sarcomeric integrity in NM.
Journal ArticleDOI
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
Nyamkhishig Sambuughin,Kyle S. Yau,Montse Olivé,Rachael M. Duff,Munkhuu Bayarsaikhan,Shajia Lu,Laura Gonzalez-Mera,Padma Sivadorai,Kristen J. Nowak,Gianina Ravenscroft,Frank L. Mastaglia,Kathryn N. North,Biljana Ilkovski,Hannie Kremer,Martin Lammens,Baziel G.M. van Engelen,Vicki Fabian,Phillipa J. Lamont,Mark R. Davis,Nigel G. Laing,Lev G. Goldfarb +20 more
TL;DR: A member of the BTB/Kelch protein family that is mutated in nemaline myopathy type 6 (NEM6), an autosomal-dominant neuromuscular disorder characterized by the presence of nemaline rods and core lesions in the skeletal myofibers is identified.
Journal ArticleDOI
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy
Pankaj B. Agrawal,Christopher R. Pierson,Mugdha Joshi,Xiaoli Liu,Gianina Ravenscroft,Behzad Moghadaszadeh,Tiffany Talabere,Marissa G. Viola,Lindsay C. Swanson,Goknur Haliloglu,Beril Talim,Kyle S. Yau,Richard J.N. Allcock,Nigel G. Laing,Mark A. Perrella,Alan H. Beggs +15 more
TL;DR: Results suggest that mutations in SPEG, encodingSPEG, cause a CNM phenotype as a result of its interaction with MTM1, a lipid phosphatase.
Journal ArticleDOI
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
Emily J. Todd,Kyle S. Yau,Royston Ong,Jennie Slee,George McGillivray,Christopher P. Barnett,Goknur Haliloglu,Beril Talim,Zuhal Akçören,Ariana Kariminejad,Anita Cairns,Nigel F. Clarke,Nigel F. Clarke,Mary-Louise Freckmann,Norma B. Romero,Denise Williams,Caroline Sewry,Alison Colley,Monique M. Ryan,Cathy Kiraly-Borri,Padma Sivadorai,Richard J.N. Allcock,David Beeson,Susan Maxwell,Mark R. Davis,Nigel G. Laing,Gianina Ravenscroft +26 more
TL;DR: This study highlights the power and capacity of next generation sequencing to determine the aetiology of genetically heterogeneous neuromuscular diseases, to identify novel disease genes in small pedigrees or isolated cases and to refine the interplay between genetic diagnosis and clinical evaluation and management.