Ee Shien Tan
SingHealth Duke-NUS Academic Medical Centre(SG)KK Women's and Children's Hospital(SG)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomics and Rare Diseases, Genetic factors in colorectal cancer, Iron Metabolism and Disorders, Hemoglobinopathies and Related Disorders
Most-Cited Works
- → Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia(2016)79 cited
- → Williams–Beuren syndrome in diverse populations(2018)72 cited
- → Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8year journey from pilot to current program(2014)72 cited
- → Analysis of clinically relevant variants from ancestrally diverse Asian genomes(2022)71 cited
- → A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase(2014)59 cited
- → Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy(2020)53 cited