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Kyle S. Yau

University of Western Australia

24

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731

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

2020 Annals of clinical and translational neurology
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High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.

2020 BMC Ophthalmology
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Clinical Application of Circulating Tumor Cells and Circulating Tumor DNA in Uveal Melanoma

2018
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Congenital Titinopathy: Comprehensive characterization and pathogenic insights

2018 Annals of Neurology
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Clinical characterisation of a large international congenital titinopathy cohort

2017 Neuromuscular Disorders
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Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement

2016 Neuromuscular Disorders
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Efficacy of next-generation sequencing in molecular diagnosis of archived DNA samples

2015 Neuromuscular Disorders
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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

2015 Orphanet Journal of Rare Diseases
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G.P.35

2014 Neuromuscular Disorders
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SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

2014 American Journal of Human Genetics
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Citations (109)