Publications by authors named "Igor Stevanovski"

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Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.
Bianca R Grosz, Melina Ellis, Shuchi Trivedi, Carolin Scriba, Marion Stoll, Igor Stevanovski

J Peripher Nerv Syst· December 2025

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Targeted sequencing and iterative assembly of near-complete genomes.
Hasindu Gamaarachchi, Igor Stevanovski, Jillian M Hammond, Andre L M Reis, Melissa Rapadas

Nat Commun· November 2025

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Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features.
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet-Vidiella, Alba Segarra-Casas

Ann Clin Transl Neurol· October 2025

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Polyglycine-mediated aggregation of FAM98B disrupts tRNA processing in GGC repeat disorders.
Jason Yang, Yunhan Xu, David R Ziehr, Martin S Taylor, Max L Valenstein, Igor Stevanovski

Science· July 2025

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Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L M Reis, Sanjog R Chintalaphani

Ann Clin Transl Neurol· April 2025

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Oncogenic plasmid DNA and liver injury agent dictates liver cancer development in a mouse model.
Vincent Chiu, Christine Yee, Nathan Main, Igor Stevanovski, Matthew Watt

Clin Sci (Lond)· October 2024

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Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski

Nat Commun· October 2024

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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Igor Stevanovski

Nat Genet· July 2024

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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski

Nat Commun· July 2024

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A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
Bianca R Grosz, Jevin M Parmar, Melina Ellis, Samantha Bryen, Cas Simons, Igor Stevanovski

J Peripher Nerv Syst· June 2024

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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Kerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, Carey-Anne Evans, Emily O'Heir, Igor Stevanovski

Genet Med· May 2024

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An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.
Shadi El-Wahsh, Avi Fellner, Matthew Hobbs, Joe Copty, Ira Deveson, Igor Stevanovski

Mov Disord Clin Pract· May 2024

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A universal molecular control for DNA, mRNA and protein expression.
Helen M Gunter, Scott E Youlten, Andre L M Reis, Tim McCubbin, Bindu Swapna Madala, Igor Stevanovski

Nat Commun· March 2024

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Natalia Dominik, Stefania Magri, Riccardo Currò, Elena Abati, Stefano Facchini, Igor Stevanovski

Brain· December 2023

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The landscape of genomic structural variation in Indigenous Australians.
Andre L M Reis, Melissa Rapadas, Jillian M Hammond, Hasindu Gamaarachchi, Igor Stevanovski

Nature· December 2023

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Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.
Yvonne Hort, Patricia Sullivan, Laura Wedd, Lindsay Fowles, Igor Stevanovski

NPJ Genom Med· July 2023

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in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Carolin K Scriba, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Roula Ghaoui

Brain Commun· July 2023

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GGC Repeat Expansion Presenting as Adult-Onset Cervical Dystonia.
Laura J Williams, Jessica Qiu, Tien Lee Ong, Ira W Deveson, Igor Stevanovski

Mov Disord Clin Pract· April 2023

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Transcriptome and Genome Analysis Uncovers a Structural Variant: A Case Report.
Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J Kornberg, Igor Stevanovski

Neurol Genet· April 2023

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Library adaptors with integrated reference controls improve the accuracy and reliability of nanopore sequencing.
Helen M Gunter, Scott E Youlten, Bindu Swapna Madala, Andre L M Reis, Igor Stevanovski

Nat Commun· October 2022

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Sex-specific transcriptomic and epitranscriptomic signatures of PTSD-like fear acquisition.
Andre L M Reis, Jillian M Hammond, Igor Stevanovski, Jonathon C Arnold, Iain S McGregor

iScience· September 2022

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Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
Bianca R Grosz, Igor Stevanovski, Sara Negri, Melina Ellis, Stephanie Barnes

J Peripher Nerv Syst· June 2022

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Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, James M Ferguson, Sandy S Pineda

Sci Adv· March 2022

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Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology.
Ira W Deveson, Binsheng Gong, Kevin Lai, Jennifer S LoCoco, Todd A Richmond, Igor Stevanovski

Nat Biotechnol· September 2021

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Respiratory viral co-infections among SARS-CoV-2 cases confirmed by virome capture sequencing.
Ki Wook Kim, Ira W Deveson, Chi Nam I Pang, Malinna Yeang, Zin Naing, Igor Stevanovski

Sci Rep· February 2021

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