Toby Chun Hei Chan

7PUBLICATIONS
12CO-AUTHORS
Forensic epidemiologyComputational neuroscience (incl. mathematical neuroscience and theoretical neuroscience)NeonatologyInfant and child healthGene expression (incl. microarray and other genome-wide approaches)
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Publications (7)

|Aug 26, 2026
Attitudes Toward Sex-Specific Versus Universal Newborn Screening for X-Linked Adrenoleukodystrophy in Hong Kong.

|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

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Frequent Collaborators

5 joint publications

Chloe Miu Mak

3 joint publications

Anne Mei Kwun Kwok

2 joint publications

Matthew Chun Wing Yeung

1 joint publications

Sammy Pak Lam Chen