Wai Yan Yau

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 564 citations · Full text

Biallelic Expansion, Neurological Disorder, Genetic Disorder +5

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Andrea Cortese, Stefano Tozza, Wai Yan Yau et al. · Brain · 2020 · 213 citations · Full text

Vestibular Areflexia Syndrome, Motor Dysfunction, Neurological Disorder +18

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Carolin K. Scriba, Sarah J. Beecroft, Joshua S. Clayton et al. · Brain · 2020 · 92 citations · Full text

Neurodegenerative Diseases, Serum Creatine Kinase, Mendelian Disorder +13

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

Sarah J. Beecroft, Andrea Cortese, Roisin Sullivan et al. · Brain · 2020 · 78 citations · Full text

Neuronal intranuclear inclusion disease is genetically heterogeneous

Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane et al. · Annals of Clinical and Translational Neurology · 2020 · 59 citations · Full text