Kok Siong Poon

发表

Activation of the liver X receptors alters CD4+ T cell membrane lipids and signalling through direct regulation of glycosphingolipid synthesis

E. Havrdová, D. Owen, G. Robinson, 2019 .

Detecting SARS‐CoV‐2 RNA in fecal specimens: The practical challenges

Kok Siong Poon, N. Tee, 2021, Journal of medical virology.

Caveats of Reporting Cycles Threshold from SARS-CoV-2 Qualitative PCR Assays: A Molecular Diagnostic Laboratory Perspective

Kok Siong Poon, Nancy Wen-Sim Tee, 2020, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Caveats of Reporting Cycle Threshold Values from Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Qualitative Polymerase Chain Reaction Assays: A Molecular Diagnostic Laboratory Perspective

Kok Siong Poon, Nancy Wen-Sim Tee, 2020, Clinical Infectious Diseases.

A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl

M. Zacharin, Kok Siong Poon, C. Ho, 2021, Journal of Pediatric Genetics.

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

E. Koay, Kok Siong Poon, C. Ho, 2015, Journal of investigative medicine high impact case reports.

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

Kok Siong Poon, K. Tan, 2021, Global Medical Genetics.

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

Kok Siong Poon, K. Tan, P. Tan, 2022, BMC research notes.

Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities ‐ Renal Asian Genetics Network (DRAGoN)

P. Tan, F. Schaefer, S. Davila, 2022 .

Validation of the Hemochromatosis (2SNP+) Direct EUROArray Assay for the Molecular Diagnosis of HFE-Related Hereditary Hemochromatosis.

Kok Siong Poon, K. Tan, Caitlyn Lee, 2020, Genetic testing and molecular biomarkers.

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

E. Koay, Kok Siong Poon, A. Sng, 2020, Human Genome Variation.

A novel JAK2 R564* variant in a patient with thrombocytosis

Kol Jia Yong, B. Yan, Jianbiao Zhou, 2020, International journal of laboratory hematology.

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

Kok Siong Poon, K. Tan, 2021, Global Medical Genetics.

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

Kok Siong Poon, 2021, Scientific Reports.

Intracerebral Flexner-Wintersteiner Rosette-Rich Tumor With Somatic RB1 Mutation: A CNS Embryonal Tumor With Retinoblastic Differentiation

R. McLendon, Kok Siong Poon, M. Kimpo, 2018, Journal of neuropathology and experimental neurology.

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

Kok Siong Poon, L. Chiu, K. Tan, 2021, Global Medical Genetics.

HCV Genotyping with Concurrent Profiling of Resistance-Associated Variants by NGS Analysis

Kok Siong Poon, Julian Wei-Tze Tang, Evelyn Siew- Chuan Koay, 2019, Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations.

Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities ‐ Renal Asian Genetics Network (DRAGoN)

P. Tan, Y. Chan, F. Schaefer, 2022, Clinical genetics.

Recurrent gastrointestinal bleeding in a patient with IgM paraproteinaemia

Kok Siong Poon, M. B. Abid, S. de Mel, 2017, Journal of Clinical Pathology.

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

Kok Siong Poon, K. Tan, 2021, Global Medical Genetics.

Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.

E. Koay, Kok Siong Poon, Evelyn Siew-Chuan Koay, 2016, Clinical biochemistry.

Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratory

Kok Siong Poon, E. Koay, K. Tan, 2019, Journal of Clinical Pathology.

One-step molecular detection of the MYD88 L265P mutation by unlabeled probe genotyping analysis.

E. Koay, Kok Siong Poon, K. Tan, 2015, Molecular and cellular probes.

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

Kok Siong Poon, K. Loke, K. Tan, 2021, Human genome variation.

Significance of variant annotation for molecular diagnosis of thalassaemia

E. Koay, Kok Siong Poon, K. Tan, 2020, Journal of Clinical Pathology.

Obesity-Associated GNAS Mutations and the Melanocortin Pathway.

Kok Siong Poon, K. Tan, Karen M L Tan, 2022, The New England journal of medicine.

Emerging COVID-19 diagnostics in context—what about testing saliva?

Kok Siong Poon, N. Tee, 2021, Journal of Laboratory and Precision Medicine.

Performance evaluation of Cepheid Xpert Norovirus kit with a user‐modified protocol

E. Koay, B. Yan, Gabriel Yan, 2018, Journal of medical virology.