Meow-keong K. Thong

Kuala Lumpur, 59100, Malaysia

Last Updated: 09/26/2026

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Found 79 publications

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Journal: iScience
Published: March 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

BRCA Testing in Asian Patients with Ovarian Cancer: Standard Clinical Practice or Mutation Prediction Model?

BRCA Testing in Asian Patients with Ovarian Cancer: Standard Clinical Practice or Mutation Prediction Model?

Journal: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
Published: December 18, 2025

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.

Journal: Human genetics
Published: November 03, 2025

Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial.

Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial.

Journal: Nature medicine
Published: July 23, 2025

Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force.

Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force.

Journal: Therapeutic advances in rare disease
Published: June 20, 2025

The 1% gift to humanity: The Human Genome Project II.

The 1% gift to humanity: The Human Genome Project II.

Journal: Cell research
Published: August 09, 2024

Obtaining assent for research involving children in Malaysia: a position statement from the Academy of Medicine of Malaysia College of Paediatrics.

Obtaining assent for research involving children in Malaysia: a position statement from the Academy of Medicine of Malaysia College of Paediatrics.

Journal: The Medical journal of Malaysia
Published: August 01, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square
Published: June 21, 2024

Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force.

Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force.

Journal: European journal of medical genetics
Published: March 11, 2024

Management of food socialization for children with Prader-Willi Syndrome: An exploration study in Malaysia.

Management of food socialization for children with Prader-Willi Syndrome: An exploration study in Malaysia.

Journal: PloS one
Published: January 14, 2024

Comparison of the ABC and ACMG systems for variant classification.

Comparison of the ABC and ACMG systems for variant classification.

Journal: European journal of human genetics : EJHG
Published: December 19, 2023
Showing 1-12 of 79

Last Updated: 09/26/2026