Martin C. Chui

Sar, China

Last Updated: 09/26/2026

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Found 10 publications

Bridging the Functional Gap by Synergy of Exome/Genome and RNA Sequencing: A Systematic Semi-quantitative Review Demonstrating Enhanced Diagnostic Yield in Genetic Diagnostics.

Bridging the Functional Gap by Synergy of Exome/Genome and RNA Sequencing: A Systematic Semi-quantitative Review Demonstrating Enhanced Diagnostic Yield in Genetic Diagnostics.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 05, 2025

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Journal: EBioMedicine

Published: October 08, 2024

Long-surviving Neu-Laxova syndrome confirmed by whole exome sequencing: a case report.

Long-surviving Neu-Laxova syndrome confirmed by whole exome sequencing: a case report.

Journal: Hong Kong medical journal = Xianggang yi xue za zhi

Published: May 29, 2024

Whole genome sequencing in paediatric channelopathy and cardiomyopathy.

Whole genome sequencing in paediatric channelopathy and cardiomyopathy.

Journal: Frontiers in cardiovascular medicine

Published: November 09, 2023

Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.

Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.

Journal: Journal of the American Heart Association

Published: February 15, 2023

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.

Journal: Healthcare (Basel, Switzerland)

Published: October 27, 2022

Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept.

Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept.

Journal: NPJ genomic medicine

Published: June 28, 2022

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.

Journal: Frontiers in genetics

Published: April 30, 2022

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Journal: NPJ genomic medicine

Published: August 06, 2021

Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment.

Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment.

Journal: International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

Published: March 09, 2021

Showing 1-10 of 10

Last Updated: 09/26/2026