Toby Chun Hei Chan

6PUBLICATIONS
11CO-AUTHORS
Computational neuroscience (incl. mathematical neuroscience and theoretical neuroscience)NeonatologyInfant and child healthGene expression (incl. microarray and other genome-wide approaches)Neurogenetics
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Publications (6)

|Oct 24, 2025
Validation on the First-Tier Fully Automated High-Throughput SMN1, SMN2, TREC, and RPP30 Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.

Chloe Miu Mak, Timothy Yiu Cheong Ho, Man Kwan Yip

|Nov 25, 2024
DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.

Tsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok

|Mar 27, 2024
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau

|Mar 27, 2024
Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.

Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung

|Sep 30, 2022
Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father-A peculiar pattern of X-linked recessive inheritance.

Toby Chun Hei Chan, Hoi Ning Cheung, Jasmine Chow

|May 20, 2020
Determination of cerebrospinal fluid adenosine deaminase activity cut-off for the diagnosis of tuberculous meningitis in Hong Kong.

Toby Chun Hei Chan, Sammy Pak Lam Chen, Chloe Miu Mak

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Frequent Collaborators

4 joint publications

Chloe Miu Mak

3 joint publications

Anne Mei Kwun Kwok

1 joint publications

Sammy Pak Lam Chen

1 joint publications

Hoi Ning Cheung