In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing

por Poon, Kok-Siong
Publicado 2021

Realistic considerations for comparison between SARS-CoV-2 molecular diagnostic assays

por Poon, Kok-Siong, Tee, Nancy Wen-Sim
Publicado 2021

Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards

por Poon, Kok-Siong, Tan, Karen Mei-Ling
Publicado 2021

Variant Curation is Crucial to Claim Digenic Inheritance in Juvenile Open Angle Glaucoma

por Poon, Kok-Siong, Tan, Karen Mei-Ling
Publicado 2021

Pitfalls of PCR-RFLP in Detecting SARS-CoV-2 D614G Mutation

por Poon, Kok-Siong, Tan, Karen Mei-Ling
Publicado 2022

Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis

por Poon, Kok-Siong, Chiu, Lily, Tan, Karen Mei-Ling
Publicado 2021

A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant

por Poon, Kok-Siong, Tan, Karen Mei-Ling, Loke, Kah Yin
Publicado 2021

Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia

por Poon, Kok-Siong, Tan, Karen Mei-Ling, Koay, Evelyn Siew-Chuan, Sng, Andrew
Publicado 2020

Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant

por Poon, Kok Siong, Sng, Andrew Anjian, Ho, Cindy Weili, Koay, Evelyn Siew-Chuan, Loke, Kah Yin
Publicado 2015

A direct sequencing assay for pharmacogenetic testing of thiopurine-intolerant NUDT15 alleles in an Asian population

por Poon, Kok-Siong, Imran, Izz Irfan B., Chew, Silvester Kheng-Han, Tan, Patrice, Tan, Karen Mei-Ling
Publicado 2022