Gaik-siew Ch'ng - Publications

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

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Journal: American journal of human genetics

Published: February 11, 2025

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Journal: American journal of medical genetics. Part A

Published: March 23, 2023

Maternal gonosomal mosaicism in rare autosomal dominant SLFN14-related thrombocytopenia.

Journal: British journal of haematology

Published: August 13, 2022

A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Journal: Brain sciences

Published: September 09, 2021

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Journal: Genome medicine

Published: August 31, 2021

Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.

Journal: Clinical biochemistry

Published: July 14, 2021

Cost-Effectiveness of Colorectal Cancer Genetic Testing.

Journal: International journal of environmental research and public health

Published: June 30, 2021

Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.

Journal: Journal of medical genetics

Published: September 08, 2020

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.

Journal: American journal of human genetics

Published: November 20, 2019

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.

Journal: Epilepsia open

Published: August 12, 2018

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Journal: Nature genetics

Published: November 12, 2016