Publications by authors named "Christopher Mak"

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Mendelian randomisation reveals modifiable pathways and epigenetic markers from childhood maltreatment to neuropsychiatric disorders.
Nicole Ying Ting Ng, John Yen Tang, Jie V Zhao, Christopher Chun Yu Mak, Brian Hon Yin Chung

Br J Psychiatry· November 2025

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The Causal Effects of Lifestyle Factors on Osteoarthritis: A Two-sample Mendelian Randomisation Study.
Justin Ho, Christopher Chi Hang Mak, Lawrence Chun Man Lau, Kendrick To, Wasim Khan

Curr Rheumatol Rev· September 2025

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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.
Kevin T A Booth, Sharayu V Jangam, Martin M C Chui, Kayla Treat, Lorenzo Graziani, Christopher C Y Mak

Brain· August 2025

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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
Christopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman

EBioMedicine· May 2025

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An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.
Martin Man-Chun Chui, Anna Ka-Yee Kwong, Hiu Yu Cherie Leung, Chingyiu Pang, Ines F Scheller, Christopher Chun-Yu Mak

NPJ Genom Med· May 2025

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NDUFB7 mutations cause brain neuronal defects, lactic acidosis, and mitochondrial dysfunction in humans and zebrafish.
Yen-Lin Chen, Brian Hon-Yin Chung, Masakazu Mimaki, Shumpei Uchino, Yin-Hsiu Chien, Christopher Chun-Yun Mak

Cell Death Discov· March 2025

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Aime Lumaka, Gehad Elmakkawy, Christopher C Y Mak

medRxiv· October 2024

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Aime Lumaka, Gehad Elmakkawy, Christopher C Y Mak

Res Sq· June 2024

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Whole genome sequencing in paediatric channelopathy and cardiomyopathy.
Sit Yee Kwok, Anna Ka Yee Kwong, Julia Zhuo Shi, Connie Fong Ying Shih, Mianne Lee, Christopher C Y Mak

Front Cardiovasc Med· March 2024

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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.
Mianne Lee, Adrian C Y Lui, Joshua C K Chan, Phoenix H L Doong, Anna K Y Kwong, Christopher C Y Mak

Hum Genomics· October 2023

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Asthma subtypes and risk of cardiovascular disease: A Mendelian randomization study.
Nicole Y T Ng, Jie V Zhao, Christopher C Y Mak, So Lun Lee, Brian H Y Chung

Pediatr Allergy Immunol· July 2023

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Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.
Martin M C Chui, Christopher C Y Mak, Mullin H C Yu, Sandra Y Y Wong, Kin-Shing Lun

J Am Heart Assoc· February 2023

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Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.
Theodora Hei Tung Lai, Leung Kuen Sandy Au, Yuen Ting Eunice Lau, Hei Man Lo, Kelvin Yuen Kwong Chan, Christopher Chun Yu Mak

Healthcare (Basel)· December 2022

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Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept.
Mianne Lee, Anna K Y Kwong, Martin M C Chui, Jeffrey F T Chau, Christopher C Y Mak

NPJ Genom Med· December 2022

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Mendelian Randomization Studies of Lifestyle-Related Risk Factors for Osteoarthritis: A PRISMA Review and Meta-Analysis.
Justin Ho, Christopher Chi Hang Mak, Vivek Sharma, Kendrick To, Wasim Khan

Int J Mol Sci· October 2022

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Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.
Jeffrey Fong Ting Chau, Mianne Lee, Martin Man Chun Chui, Mullin Ho Chung Yu, Jasmine Lee Fong Fung, Christopher Chun Yu Mak

Front Genet· August 2022

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Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic.
Mianne Lee, Adrian C Y Lui, Christopher C Y Mak, Mandy H Y Tsang, Jasmine L F Fung

Clin Dysmorphol· July 2022

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Probiotic supplementation demonstrates therapeutic potential in treating gut dysbiosis and improving neurocognitive function in age-related dementia.
Henry Yue Hong Meng, Christopher Chi Hang Mak, Wing Yan Mak, Tao Zuo, Ho Ko

Eur J Nutr· June 2022

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Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Jeffrey Fong Ting Chau, Mullin Ho Chung Yu, Martin Man Chun Chui, Cyrus Chun Wing Yeung, Aaron Wing Cheung Kwok, Christopher Chun Yu Mak

NPJ Genom Med· March 2022

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Infrapatellar fat pad adipose-derived stem cells co-cultured with articular chondrocytes from osteoarthritis patients exhibit increased chondrogenic gene expression.
Christopher C H Mak, Kendrick To, Karim Fekir, Roger A Brooks, Wasim S Khan

Cell Commun Signal· February 2022

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Understanding and perception of direct-to-consumer genetic testing in Hong Kong.
Vivian C C Hui, H C Li, Josh H K Chow, Chris S C Ng, Constance Y W Lui, Christopher C Y Mak

J Genet Couns· December 2021

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The association between alcohol consumption and osteoarthritis: a meta-analysis and meta-regression of observational studies.
Kendrick To, Christopher Mak, Chen Zhang, Yuhui Zhou, Stephanie Filbay

Rheumatol Int· September 2021

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Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong.
Nicholas Yan Chai Cheung, Jasmine Lee Fong Fung, Yvette Nga Chung Ng, Wilfred Hing Sang Wong, Claudia Ching Yan Chung, Christopher Chun Yu Mak

Hum Genomics· August 2021

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Meta-Analysis of Adipose Tissue Derived Cell-Based Therapy for the Treatment of Knee Osteoarthritis.
Nikhil Agarwal, Christopher Mak, Christine Bojanic, Kendrick To, Wasim Khan

Cells· June 2021

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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Claudia C Y Chung, Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Mianne Lee

Lancet Reg Health West Pac· August 2020

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