Shanti Balasubramaniam

6PUBLICATIONS
41CO-AUTHORS
NeonatologyInfant and child healthGenome structure and regulationCell physiologyCancer genetics
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Publications (6)

|Mar 23, 2026
Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Jennifer Rakotomamonjy, Lucas Fares-Taie, Raman Kumar

|Mar 13, 2026
An Australian standard of care for Niemann-Pick disease type C.

Michel Tchan, Nicholas Smith, Heidi Peters

|Nov 07, 2022
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant.

Wui-Kwan Wong, Shanti Balasubramaniam, Rachel S H Wong

|Sep 10, 2021
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

Carolyn M Sue, Shanti Balasubramaniam, Drago Bratkovic

|Nov 10, 2020
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.

Liesbeth T M Wintjes, Maina Kava, Frans A van den Brandt

|Jul 21, 2020
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.

Maina P Kava, Leah Bryant, Peter Rowe

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Frequent Collaborators

3 joint publications

Carolyn J Ellaway

2 joint publications

John Christodoulou

2 joint publications

Maina Kava

1 joint publications

Liesbeth T M Wintjes