Kyle S. Yau
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View article: Recent advancements in lung cancer research: a narrative review
Recent advancements in lung cancer research: a narrative review Open
Significant strides have been made in lung cancer research over the last ten years, particularly in diagnostics and treatment methodologies. Future research should prioritize exploring the TME, the function of T lymphocytes, and the effica…
View article: BIOS Vision Screening Report: Academic Year 2018-2019
BIOS Vision Screening Report: Academic Year 2018-2019 Open
Vision screening in school has long been regarded as an effective way to reduce the prevalence rate of amblyopia induced by strabismus, high refractive error or other causes (Vision in preschool study group, 2003, Solebo, Cumberland & Rahi…
View article: 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 Open
Objective To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. Methods We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 inclu…
View article: 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 Open
View article: 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 Open
Purpose To evaluate the feasibility of using circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) for the management of uveal melanoma (UM). Patients and Methods Low-coverage whole-genome sequencing was used to determine somati…
View article: Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Congenital Titinopathy: Comprehensive characterization and pathogenic insights Open
Objective Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. Methods Using massively parallel sequencing we identified 30 patients from 27 families …
View article: 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 Open