Gaik-Siew Ch’ng
Penang Adventist Hospital(MY)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Alzheimer's disease research and treatments, BRCA gene mutations in cancer, Genomics and Rare Diseases
Most-Cited Works
- → Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly(2017)217 cited
- → Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures(2019)70 cited
- → Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants(2022)53 cited
- → De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy(2020)50 cited
- → Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses(2020)35 cited
- Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.(2015)
- → Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes(2021)23 cited
- → Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia(2021)12 cited
- → Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family(2015)10 cited
- → Genetic Testing for Cancer Risk: Is the Community Willing to Pay for It?(2021)10 cited