Kyle S. Yau

6 Verdun Street
Nedlands, WA 6009, Australia

Last Updated: 09/26/2026

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Found 10 publications

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

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

Journal: Annals of clinical and translational neurology

Published: December 16, 2019

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

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

Journal: BMC ophthalmology

Published: September 09, 2019

Clinical Application of Circulating Tumor Cells and Circulating Tumor DNA in Uveal Melanoma.

Clinical Application of Circulating Tumor Cells and Circulating Tumor DNA in Uveal Melanoma.

Journal: JCO precision oncology

Published: May 17, 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Journal: Annals of neurology

Published: August 02, 2017

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

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

Journal: Orphanet journal of rare diseases

Published: August 20, 2015

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

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

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: March 11, 2014

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

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

Journal: American journal of human genetics

Published: February 23, 2014

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

Journal: American journal of human genetics

Published: August 09, 2013

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Journal: American journal of human genetics

Published: March 15, 2013

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

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

Journal: Neuromuscular disorders : NMD

Published: June 07, 2012

Showing 1-10 of 10

Last Updated: 09/26/2026