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Ebiomedicine|May 28, 2026
Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approachesChingyiu Pang, Martin Man-Chun Chui, Wenshu Tang, et al.
Molecular Genetics & Genomic Medicine|May 1, 2020
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypesKit San Yeung, Florrie N Y Yu, Cheuk Wing Fung, et al.
Molecular Autism|July 4, 2017
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10Annisa Shui Lam Mak, Annie Ting Gee Chiu, Gordon Ka Chun Leung, et al.
Orphanet Journal of Rare Diseases|January 15, 2021
Exome sequencing in paediatric patients with movement disordersAnna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, et al.
Human Genomics|September 10, 2020
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese populationMandy H Y Tsang, Anna K Y Kwong, Kate L S Chan, et al.
NPJ Genomic Medicine|August 10, 2019
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern ChineseMullin Ho-Chung Yu, Mandy Ho-Yin Tsang, Sophie Lai, et al.
The Lancet Regional Health. Western Pacific|July 30, 2021
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costsClaudia C Y Chung, Gordon K C Leung, Christopher C Y Mak, et al.
Journal of Inherited Metabolic Disease|July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registryMareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.
International Journal of Neonatal Screening|March 27, 2024
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year JourneyKiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, et al.
The Lancet Regional Health. Western Pacific|February 13, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome projectWai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, et al.
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