Wai Yan Yau

11PUBLICATIONS
29CO-AUTHORS
Infant and child healthNeurogeneticsFoetal development and medicineCell and nuclear divisionNeurology and neuromuscular diseases
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Publications (11)

|May 20, 2026
Deep brain stimulation for the treatment of paediatric dystonia due to neuroanatomical abnormalities: a systematic review of efficacy and future perspectives.

|Jun 09, 2025
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Wai Yan Yau, Roisin Sullivan, Emer O'Connor

|Sep 11, 2024
Pregnancy in women with mitochondrial disease-A literature review and suggested guidance for preconception and pregnancy care.

Lisa Hui, Pema Hayman, Ali Buckland

|May 23, 2024
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.

Seungbok Lee, Jihoon G Yoon, Juhyeon Hong

|May 03, 2024
POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.

Wai Yan Yau, Catherine Ashton, Eoin Mulroy

|Mar 29, 2021
Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?

Wai Yan Yau, Zhongbo Chen, Roisin Sullivan

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Frequent Collaborators

5 joint publications

Roisin Sullivan

3 joint publications

Zhongbo Chen

2 joint publications

Henry Houlden

1 joint publications

Dennis W Dickson