Author

Christopher Chun Yu Mak

University of Hong KongORCID 0000-0001-6934-6518Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Alessia SoldanoiD· 1 shared Anna Ka‐Yee KwongiD· 1 shared Brian Hon‐Yin ChungiD· 1 shared Celanie K. ChristenseniD· 1 shared Daniela IancuiD· 1 shared Erin E. ConboyiD· 1 shared Francesco VetriniiD· 1 shared Hugo Jozef BelleniD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alessia SoldanoORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 15, 2023

De novo and inherited variants in DDX39B cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia

Kevin T. A. Booth, Sharayu V. Jangam, Martin Man Chun Chui…·Francesco Vetrini

The paper identifies de novo and inherited variants in DDX39B causing a syndrome with neurodevelopmental delay, short stature, and hypotonia, supported by molecular modeling and functional studies in Drosophila.

1 citation

humanDrosophila

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