Matthew K. Chau

Sar, China

Last Updated: 09/26/2026

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Found 34 publications

Prenatal-Onset Recessive Titinopathies: Clinical Spectrum, Genotype-Phenotype Correlations, and Outcomes.

Prenatal-Onset Recessive Titinopathies: Clinical Spectrum, Genotype-Phenotype Correlations, and Outcomes.

Journal: Diagnostics (Basel, Switzerland)
Published: April 24, 2026

Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read Sequencing.

Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read Sequencing.

Journal: Clinical chemistry
Published: April 02, 2026

Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.

Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.

Journal: American journal of human genetics
Published: January 29, 2026

Characterization of rare genomic structural variants across 2,981 genomes reveals significant involvements in recessive conditions.

Characterization of rare genomic structural variants across 2,981 genomes reveals significant involvements in recessive conditions.

Journal: Science China. Life sciences
Published: January 15, 2026

NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort.

NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort.

Journal: Prenatal diagnosis
Published: November 09, 2025

Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach.

Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach.

Journal: Human reproduction open
Published: July 24, 2025

Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory.

Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory.

Journal: Human genetics
Published: June 21, 2025

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

Journal: Biochemistry and biophysics reports
Published: June 18, 2025

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.

Journal: Molecular cell
Published: February 28, 2025

Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage.

Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage.

Journal: Clinical chemistry
Published: August 16, 2024

Mate-Pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics.

Mate-Pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics.

Journal: Clinical chemistry
Published: June 17, 2024

Genome sequencing in the prenatal diagnosis of structural malformations in the fetus.

Genome sequencing in the prenatal diagnosis of structural malformations in the fetus.

Journal: Best practice & research. Clinical obstetrics & gynaecology
Published: June 05, 2024
Showing 1-12 of 34

Last Updated: 09/26/2026