Publications by authors named "Kyle S Yau"

9Publications

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

View Article and Find Full Text PDF
June 2018

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Am J Hum Genet 2014 Aug 31;95(2):218-26. Epub 2014 Jul 31.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

View Article and Find Full Text PDF
August 2014

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.

J Neurol Neurosurg Psychiatry 2014 Sep 7;85(9):1058-60. Epub 2014 Mar 7.

Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine Level 2 PP Building, QEII Medical Centre, Nedlands, Western Australia, Australia.

View Article and Find Full Text PDF
September 2014

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

Neuromuscul Disord 2013 Feb 3;23(2):165-9. Epub 2012 Dec 3.

Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.

View Article and Find Full Text PDF
February 2013