Kwai C. Lau

Kowloon, KKC, Hong Kong Special Administrative Region

Last Updated: 09/26/2026

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Found 12 publications

A pilot study on the application of Oxford Nanopore PromethION sequencing with adaptive sampling for DMPK repeat expansion sizing in myotonic dystrophy type 1.

A pilot study on the application of Oxford Nanopore PromethION sequencing with adaptive sampling for DMPK repeat expansion sizing in myotonic dystrophy type 1.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: March 30, 2026

Resolving a complex GPIHBP1 exons 3-4 deletion adjacent to low-complexity repeats using adaptive sampling long-read sequencing in familial chylomicronaemia.

Resolving a complex GPIHBP1 exons 3-4 deletion adjacent to low-complexity repeats using adaptive sampling long-read sequencing in familial chylomicronaemia.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: January 11, 2026

Detection of SLCO1B3 intron 6 LINE-1 insertion by Nanopore Flongle Amplicon Sequencing in the first genetically confirmed Rotor syndrome patient in Hong Kong.

Detection of SLCO1B3 intron 6 LINE-1 insertion by Nanopore Flongle Amplicon Sequencing in the first genetically confirmed Rotor syndrome patient in Hong Kong.

Journal: Pathology

Published: May 15, 2025

Amplicon-based nanopore Flongle sequencing for analysis of trinucleotide repeat expansions: a proof-of-concept study.

Amplicon-based nanopore Flongle sequencing for analysis of trinucleotide repeat expansions: a proof-of-concept study.

Journal: Pathology

Published: April 20, 2025

Solving a diagnostic challenge with nanopore long-read sequencing: a novel Alu element exonic insertion with false positive MLPA finding in SLC25A13 for citrin deficiency.

Solving a diagnostic challenge with nanopore long-read sequencing: a novel Alu element exonic insertion with false positive MLPA finding in SLC25A13 for citrin deficiency.

Journal: Pathology

Published: March 25, 2024

In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13.

In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13.

Journal: Pathology

Published: October 22, 2020

Toxicity from illegitimate slimming agents - a 10-year case series at a tertiary toxicology laboratory in Hong Kong.

Toxicity from illegitimate slimming agents - a 10-year case series at a tertiary toxicology laboratory in Hong Kong.

Journal: Clinical toxicology (Philadelphia, Pa.)

Published: September 22, 2020

McArdle disease presenting as abnormal liver function: biochemical, anatomical and genetic characterisation in the first genetically confirmed Chinese family with a novel splicing variant.

McArdle disease presenting as abnormal liver function: biochemical, anatomical and genetic characterisation in the first genetically confirmed Chinese family with a novel splicing variant.

Journal: Pathology

Published: May 31, 2020

Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient.

Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient.

Journal: Pathology

Published: October 14, 2018

First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant.

First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: June 05, 2018

Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3.

Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3.

Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

Published: November 29, 2017

Adulteration of proprietary Chinese medicines and health products with undeclared drugs: experience of a tertiary toxicology laboratory in Hong Kong.

Adulteration of proprietary Chinese medicines and health products with undeclared drugs: experience of a tertiary toxicology laboratory in Hong Kong.

Journal: British journal of clinical pharmacology

Published: July 05, 2017

Showing 1-12 of 12

Last Updated: 09/26/2026