S. Tay

发表

Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.

S. Dimauro, W. Craigen, H. Akman, 2011, Human molecular genetics.

Identification and molecular characterization of a novel PDE4D11 cAMP-specific phosphodiesterase isoform.

D. Goh, S. Tay, Clare N Lynex, 2008, Cellular signalling.

Impaired Development of Neural‐Crest Cell‐Derived Organs and Intellectual Disability Caused by MED13L Haploinsufficiency

H. Liany, A. Hillmer, K. H. Utami, 2014, Human mutation.

Clinical and Genetic Features in Two Families With MELAS and the T3271C Mutation in Mitochondrial DNA

S. Dimauro, A. Shanske, S. Tay, 2005, Journal of child neurology.

The Cerebral Vasculopathy of PHACES Syndrome

P. Meyers, D. Licht, S. Tay, 2008, Stroke.

Managing tuberous sclerosis in the Asia-Pacific region: Refining practice and the role of targeted therapy

H. Kim, S. Tay, J. Lawson, 2014, Journal of Clinical Neuroscience.

Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx.

H. Freeze, E. Eklund, Y. Miura, 2005, The Journal of pediatrics.

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation

J. Hodgin, M. Wenk, F. Hildebrandt, 2020, Journal of inherited metabolic disease.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

R. Finkel, P. Bauer, M. Baudis, 2013, Brain : a journal of neurology.

Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French–Canadian Type Outside of Québec

S. Tay, V. X. Han, T. Tan, 2017, Child neurology open.

A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

Gene W. Yeo, E. Tai, C. Khor, 2014, PloS one.

Unusual Clinical Presentations in Four Cases of Leigh Disease, Cytochrome C Oxidase Deficiency, and SURF1 Gene Mutations

S. Dimauro, S. Sacconi, D. D. De Vivo, 2005, Journal of child neurology.

Elevated thyroid peroxidase antibodies with encephalopathy in MELAS syndrome.

S. Tay, D. Chan, C. C. Lim, 2007, Pediatric neurology.

Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.

P. Kaplan, S. Dimauro, S. Tay, 2004, Archives of neurology.

Enterovirus infections in Singaporean children: an assessment of neurological manifestations and clinical outcomes.

E. Koay, S. Tay, A. Han, 2017, Singapore medical journal.

Myotoxicity of lipid-lowering agents in a teenager with MELAS mutation.

S. Dimauro, P. Lai, S. Tay, 2008, Pediatric neurology.

Mitochondrial D-loop Polymorphisms and Mitochondrial DNA Content in Childhood Acute Lymphoblastic Leukemia

A. Yeoh, H. Ariffin, S. Tay, 2011, Journal of pediatric hematology/oncology.

Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related.

Ming Lee, S. Tay, Yi Jayne Tan, 2022, Journal of neuromuscular diseases.

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

E. Liu, Y. Ruan, C. Lee, 2014, PloS one.

Gut microbiota changes in children with autism spectrum disorder: a systematic review

N. Nagarajan, N. Syn, S. Shorey, 2020, Gut Pathogens.

Fatal infantile neuromuscular presentation of glycogen storage disease type IV

W. Chung, S. Dimauro, F. Muntoni, 2004, Neuromuscular Disorders.

Identification and characterization of novel mouse PDE4D isoforms: molecular cloning, subcellular distribution and detection of isoform-specific intracellular localization signals.

Sydney Brenner, D. Goh, S. Tay, 2008, Cellular signalling.

A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension

C. Heng, O. Pines, D. Goh, 2019, Journal of Molecular Medicine.

Mitochondrial Changes in Aging Orbicularis Oculi Muscles: Histologic and Genetic Analyses in Elderly Asian Patients

G. Sundar, S. Tay, A. Charlton, 2012, Asia-Pacific journal of ophthalmology.

CISH and susceptibility to infectious diseases.

S. Wong, J. Sung, D. Kwiatkowski, 2010, The New England journal of medicine.

Diagnostic strategy for the detection of dystrophin gene mutations in asian patients and carriers using immortalized cell lines.

P. Lai, H. H. Khng, S. Tay, 2006, Journal of child neurology.

Correlates of adaptive skills in children with autism spectrum disorder

S. Tay, M. Sung, T. Goh, 2021, Autism : the international journal of research and practice.

Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.

S. Dimauro, E. Schon, M. Mancuso, 2004, Archives of neurology.

Unusually mild phenotype of AADC deficiency in 2 siblings.

D. Goh, S. Tay, P. Low, 2007, Molecular genetics and metabolism.

Stress and resilience of paediatric healthcare workers during COVID-19.

C. Heng, S. Tay, D. Rajgor, 2021, Annals of the Academy of Medicine, Singapore.

Mitochondrial Encephalomyopathies: Diagnostic Approach

S. Dimauro, M. Mancuso, S. Tay, 2004, Annals of the New York Academy of Sciences.

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P. Gluckman, H. Chen, Y. Chong, 2021 .

A Novel Splice-Site Mutation in ALS 2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized

Gene W. Yeo, Mansoor, Khor, 2014 .

Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.

S. Dimauro, S. Monaco, D. Nordli, 2006, Archives of neurology.

Detection of hemi/homozygotes through heteroduplex formation in high-resolution melting analysis.

P. Lai, S. Tay, E. Yap, 2011, Analytical biochemistry.

Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis.

S. Chong, J. Lum, S. Tay, 2006, Clinical chemistry.

Identification of the first COG-CDG patient of Indian origin.

Wanjin Hong, H. Freeze, W. Hong, 2011, Molecular genetics and metabolism.

Income disparity in school readiness and the mediating role of perinatal maternal mental health: a longitudinal birth cohort study

P. Gluckman, H. Chen, Y. Chong, 2021, Epidemiology and Psychiatric Sciences.

First pediatric organ donation after circulatory determination of death in Singapore: Facing challenges in the absence of a local practice guideline.

P. Chong, P. Koh, S. Tay, 2020, Pediatric transplantation.

Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation

S. Dimauro, M. Mancuso, A. Mauro, 2005, Journal of the Neurological Sciences.

The Cerebral Vasculopathy of PHACES Syndrome

P. Meyers, D. Licht, S. Tay, 2008, Stroke.

Secondary Cerebral Folate Deficiency Comorbidity in Neuronal Ceroid Lipofuscinosis

S. Tay, K. Hyland, Y. Lim, 2016, Journal of Pediatric Neurology.