Author

Matthew Hoi Kin Chau

Chinese University of Hong KongORCID 0000-0002-0945-1938Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Amy CrunkiD· 1 shared Anita KabahiziiD· 1 shared Carlos A. GadiaiD· 1 shared Graciela CarrolloiD· 1 shared Harrison HiggsiD· 1 shared Huanchen YaniD· 1 shared Huilin WangiD· 1 shared Jérémie MortreuxiD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amy CrunkORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 28, 2026

Expanding clinical and variant spectrum of CBX1-related syndrome: Report of three novel cases

Graciela Carrollo, Shuhei Fujino, Harrison Higgs…·Kosuke Izumi

This paper reports three novel de novo CBX1 variants in patients with developmental delay and describes genotype-phenotype correlations.

DOI 10.64898/2026.09.28.26363820

humanstatistical model

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GenomicsFrontiers in GeneticsPeer-reviewedAug 16, 2019

Prenatal Diagnosis of Fetuses with Increased Nuchal Translucency by Genome Sequencing Analysis

Kwong Wai Choy, Huilin Wang, Mengmeng Shi…·Zirui Dong

This study evaluates genome sequencing for prenatal diagnosis of fetuses with increased nuchal translucency, finding it doubles the diagnostic yield compared to standard methods.

72 citationstop 1%

humanwhole-genome sequencing

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