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

Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.1131-1142

2020

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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

PloS one, 2014-12, Vol.9 (12), p.e113258-e113258

2014

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Correlates of adaptive skills in children with autism spectrum disorder

Autism : the international journal of research and practice, 2021-08, Vol.25 (6), p.1592-1600

2021

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Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-06, Vol.181 (2), p.230-244

2019

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The Cerebral Vasculopathy of PHACES Syndrome

Stroke (1970), 2008-02, Vol.39 (2), p.308-316

2008

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Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Journal of inherited metabolic disease, 2021-11, Vol.44 (6), p.1489-1502

2021

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

Journal of molecular medicine (Berlin, Germany), 2019-11, Vol.97 (11), p.1557-1566

2019

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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Nature communications, 2021-09, Vol.12 (1), p.5529-5529, Article 5529

2021

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

Journal of neuromuscular diseases, 2023-01, Vol.10 (1), p.91-106

2023

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Mitochondrial D-loop polymorphisms and mitochondrial DNA content in childhood acute lymphoblastic leukemia

Journal of pediatric hematology/oncology, 2011-08, Vol.33 (6), p.e239-e244

2011

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

Journal of clinical neuroscience, 2014-07, Vol.21 (7), p.1180-1187

2014

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

Child neurology open, 2017-01, Vol.4, p.2329048X17737638

2017

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Adult polyglucosan body disease: A case report of a manifesting heterozygote

Muscle & nerve, 2005-11, Vol.32 (5), p.675-681

2005

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A clinical approach to diagnosis and management of mitochondrial myopathies

Neurotherapeutics, 2024-01, Vol.21 (1), p.e00304-e00304, Article e00304

2024

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Diagnostic Strategy for the Detection of Dystrophin Gene Mutations in Asian Patients and Carriers Using Immortalized Cell Lines

Journal of child neurology, 2006-02, Vol.21 (2), p.150-155

2006

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Stress and resilience of paediatric healthcare workers during COVID-19

Annals of the Academy of Medicine, Singapore, 2021-04, Vol.50 (4), p.339-342

2021

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

Human mutation, 2014-11, Vol.35 (11), p.1311-1320

2014

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

Cellular signalling, 2008, Vol.20 (1), p.139-153

2008

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

Cellular signalling, 2008-12, Vol.20 (12), p.2247-2255

2008

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Reducing the Diagnostic Odyssey for Patients with Neuromuscular Disorders (NMDs)

IRC-SET 2022, 2023, p.471-481

2023

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

Pediatric transplantation, 2020, Vol.24 (6), p.e13740-e13740

2020

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Mild neurological manifestations associated with SARS-COV-2 infection in hospitalized children during the omicron wave in Singapore: A retrospective cohort review

Pediatric neurology

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

Child neurology open, 2017, Vol.4, p.2329048X17737638-2329048X17737638

2017

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

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

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

Correlates of adaptive skills in children with autism spectrum disorder

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy

The Cerebral Vasculopathy of PHACES Syndrome

Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

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

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Detection of chromosomal breakpoints in patients with developmental delay and speech disorders

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

Mitochondrial D-loop polymorphisms and mitochondrial DNA content in childhood acute lymphoblastic leukemia

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

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

Adult polyglucosan body disease: A case report of a manifesting heterozygote

A clinical approach to diagnosis and management of mitochondrial myopathies

Diagnostic Strategy for the Detection of Dystrophin Gene Mutations in Asian Patients and Carriers Using Immortalized Cell Lines

Stress and resilience of paediatric healthcare workers during COVID-19

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

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

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

Reducing the Diagnostic Odyssey for Patients with Neuromuscular Disorders (NMDs)

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

Mild neurological manifestations associated with SARS-COV-2 infection in hospitalized children during the omicron wave in Singapore: A retrospective cohort review

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

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