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

by Kok-Siong Poon
Published 2021-05-01

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

by Kok-Siong Poon, Karen Mei-Ling Tan
Published 2021-03-01

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

by Kok-Siong Poon, Nancy Wen-Sim Tee
Published 2021-06-01

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

by Kok-Siong Poon, Karen Mei-Ling Tan
Published 2021-08-01

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

by Kok-Siong Poon, Karen Mei-Ling Tan
Published 2021-09-01

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

by Kok-Siong Poon, Lily Chiu, Karen Mei-Ling Tan
Published 2021-03-01

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

by Kok-Siong Poon, Karen Mei-Ling Tan, Kah Yin Loke
Published 2021-09-01

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

by Kok Siong Poon BSc, Andrew Anjian Sng MBBS, MRCPCH, Cindy Weili Ho MBBS, MRCPCH, Evelyn Siew-Chuan Koay PhD, FRCPath, FAACB, Kah Yin Loke MBBS, MRCP (UK), FRCPCH
Published 2015-08-01