Igor Stevanovski

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 32 publications

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.

Journal: Nature communications

Published: November 17, 2025

Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.

Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.

Journal: Journal of the peripheral nervous system : JPNS

Published: August 04, 2025

Polyglycine-mediated aggregation of FAM98B disrupts tRNA processing in GGC repeat disorders.

Polyglycine-mediated aggregation of FAM98B disrupts tRNA processing in GGC repeat disorders.

Journal: Science (New York, N.Y.)

Published: July 17, 2025

Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease.

Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease.

Journal: The Journal of pathology

Published: July 06, 2025

Targeted sequencing and iterative assembly of near-complete genomes.

Targeted sequencing and iterative assembly of near-complete genomes.

Journal: Nature communications

Published: May 28, 2025

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features.

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features.

Journal: Annals of clinical and translational neurology

Published: April 22, 2025

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

Journal: Annals of clinical and translational neurology

Published: December 26, 2024

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Journal: Nature communications

Published: October 17, 2024

A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.

A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.

Journal: Journal of the peripheral nervous system : JPNS

Published: April 10, 2024

Oncogenic plasmid DNA and liver injury agent dictates liver cancer development in a mouse model.

Oncogenic plasmid DNA and liver injury agent dictates liver cancer development in a mouse model.

Journal: Clinical science (London, England : 1979)

Published: April 07, 2024

An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.

An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.

Journal: Movement disorders clinical practice

Published: November 14, 2023

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Journal: Nature communications

Published: September 29, 2023

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Last Updated: 09/26/2026