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NPJ Genomic Medicine|May 3, 2025
An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysisMartin Man-Chun Chui, Anna Ka-Yee Kwong, Hiu Yu Cherie Leung, et al.
Frontiers in Genetics|August 25, 2022
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of BronchiectasisJeffrey Fong Ting Chau, Mianne Lee, Martin Man Chun Chui, et al.
Healthcare (Basel, Switzerland)|December 23, 2022
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic LaboratoryTheodora Hei Tung Lai, Leung Kuen Sandy Au, Yuen Ting Eunice Lau, et al.
International Journal of Infectious Diseases : IJID : Official Publication of the International Society for Infectious Diseases|April 19, 2021
Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatmentSophie H Y Lai, Jaime S Rosa Duque, Brian Hon-Yin Chung, et al.
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.
NPJ Genomic Medicine|March 22, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern ChineseJeffrey Fong Ting Chau, Mullin Ho Chung Yu, Martin Man Chun Chui, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathwaysFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Communications|April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
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