Shanti D. Balasubramaniam

Roberts Rd
Subiaco, WA 6008, Australia

Last Updated: 09/26/2026

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Found 53 publications

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Journal: medRxiv : the preprint server for health sciences

Published: March 23, 2026

An Australian standard of care for Niemann-Pick disease type C.

An Australian standard of care for Niemann-Pick disease type C.

Journal: Internal medicine journal

Published: November 17, 2025

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Journal: Molecular genetics and metabolism

Published: May 31, 2025

Probiotic reduces vaginal HPV abundance, improves immunity and quality of life in HPV-positive women: a randomised, placebo-controlled and double-blind study.

Probiotic reduces vaginal HPV abundance, improves immunity and quality of life in HPV-positive women: a randomised, placebo-controlled and double-blind study.

Journal: Beneficial microbes

Published: January 21, 2025

Corrigendum to: Probiotic reduces vaginal HPV abundance, improves immunity and quality of life in HPV-positive women: a randomised, placebo-controlled and double-blind study (DOI: 10.1163/18762891-bja00079).

Corrigendum to: Probiotic reduces vaginal HPV abundance, improves immunity and quality of life in HPV-positive women: a randomised, placebo-controlled and double-blind study (DOI: 10.1163/18762891-bja00079).

Journal: Beneficial microbes

Published: January 21, 2025

Probiotic enhanced immunity and mental wellbeing of generally healthy women: a randomised, placebo-controlled and double-blind study.

Probiotic enhanced immunity and mental wellbeing of generally healthy women: a randomised, placebo-controlled and double-blind study.

Journal: Beneficial microbes

Published: October 17, 2024

TANGO2 binds crystallin alpha B and its loss causes desminopathy.

TANGO2 binds crystallin alpha B and its loss causes desminopathy.

Journal: Nature communications

Published: October 07, 2024

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 04, 2024

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.

Journal: European journal of human genetics : EJHG

Published: January 03, 2024

Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.

Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.

Journal: Brain & development

Published: October 04, 2022

Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant.

Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant.

Journal: JIMD reports

Published: June 03, 2022

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

Journal: Human molecular genetics

Published: October 25, 2021

Showing 1-12 of 53

Last Updated: 09/26/2026