Ping-Yee B Au

10PUBLICATIONS
129CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesPsychopharmacologyCondensed matter imaging
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Publications (10)

|May 20, 2026
Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy.

|Feb 08, 2026
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.

Emma H Gillesse, Miranda Wan, Setareh Ashtiani

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Jul 18, 2024
Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Mark Ainsley Colijn, Stephanie Vrijsen, Ping Yee Billie Au

|Nov 04, 2022
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.

Paul W Chrystal, Nils J Lambacher, Lance P Doucette

|Nov 01, 2022
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.

Vincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou

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Frequent Collaborators

2 joint publications

Stephanie Efthymiou

2 joint publications

Philippe M Campeau

2 joint publications

Anita Rauch

2 joint publications

Naomichi Matsumoto