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Shanti Balasubramaniam

Disorders of riboflavin metabolism
2019 · Shanti Balasubramaniam, John Christodoulou, et al. · Journal of Inherited Metabolic Disease · 171
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Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management
2012 · Senthil Senniappan, Balasubramaniam Shanti, et al. · Journal of Inherited Metabolic Disease · 164
Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function
2011 · Magnus K. Bjursell, Henk J. Blom, et al. · The American Journal of Human Genetics · 139
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A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
2016 · Lisa G. Riley, Mark J. Cowley, et al. · Journal of Inherited Metabolic Disease · 123
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
2016 · Gali Heimer, Juha M. Kerätär, et al. · The American Journal of Human Genetics · 102
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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
2021 · Adam M. Bournazos, Lisa G. Riley, et al. · Genetics in Medicine · 96
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
2020 · Lisa G. Riley, Mark J. Cowley, et al. · Genetics in Medicine · 87
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Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co‐factor pyridoxal‐5′‐phosphate availability
2010 · Shanti Balasubramaniam, Frank Bowling, et al. · Journal of Inherited Metabolic Disease · 77
Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
2017 · Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, et al. · Annals of Neurology · 76
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
2020 · Ann E. Frazier, Alison G. Compton, et al. · Med · 68
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Inborn errors of purine metabolism: clinical update and therapies
2014 · Shanti Balasubramaniam, John A. Duley, et al. · Journal of Inherited Metabolic Disease · 62
Riboflavin metabolism: role in mitochondrial function
2020 · Shanti Balasubramaniam, Joy Yaplito-Lee · Journal of Translational Genetics and Genomics · 55
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Inborn errors of pyrimidine metabolism: clinical update and therapy
2014 · Shanti Balasubramaniam, John A. Duley, et al. · Journal of Inherited Metabolic Disease · 50
Phenotypic variation of TTC19‐deficient mitochondrial complex III deficiency: A case report and literature review
2015 · Dylan A. Mordaunt, Alexandra Jolley, et al. · American Journal of Medical Genetics Part A · 42
Deleterious variants inCRLS1lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease
2022 · Richard G Lee, Shanti Balasubramaniam, et al. · Human Molecular Genetics · 40
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Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants
2019 · Rocio Rius, Nicole J. Van Bergen, et al. · Journal of Clinical Medicine · 36
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Treatment of Lesch–Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl
2013 · Bee C. Chen, Shanti Balasubramaniam, et al. · Brain and Development · 36
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children
2021 · Lisa G. Riley, Michael Nafisinia, et al. · Molecular Genetics and Metabolism · 29
Overcoming the barriers to diagnosis of Morquio A syndrome
2014 · Kaustuv Bhattacharya, Shanti Balasubramaniam, et al. · Orphanet Journal of Rare Diseases · 28
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Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6
2018 · Austin A. Larson, Shanti Balasubramaniam, et al. · Mitochondrion · 26
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Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis
2015 · Shanti Balasubramaniam, Barry Lewis, et al. · JIMD Reports · 25
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients
2010 · Hui Bein Chew, Lock Hock Ngu, et al. · Journal of Inherited Metabolic Disease · 25
Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation
2021 · You Wu, Shanti Balasubramaniam, et al. · European Journal of Human Genetics · 23
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Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)
2016 · Shanti Balasubramaniam, B. Lewis, et al. · JIMD Reports · 23
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Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants
2020 · Eleonora Di Zanni, Eleonora Palagano, et al. · Journal of Bone and Mineral Research · 22
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Works count: 100
Citation count: 1,865
H-index: 23
I10-index: 35
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