Igor Stevanovski
Overview
Explore the profile of Igor Stevanovski including associated specialties, affiliations and a list of published articles.
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25
Citations
446
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Recent Articles
1.
Rudaks L, Stevanovski I, Yeow D, Reis A, Chintalaphani S, Cheong P, et al.
Ann Clin Transl Neurol
. 2025 Feb;
PMID: 40007153
Objective: The hereditary spastic-ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline...
2.
Cortese A, Beecroft S, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, et al.
Nat Commun
. 2024 Oct;
15(1):8955.
PMID: 39419991
No abstract available.
3.
Chiu V, Yee C, Main N, Stevanovski I, Watt M, Wilson T, et al.
Clin Sci (Lond)
. 2024 Sep;
138(19):1227-1248.
PMID: 39254423
Primary liver cancer is an increasing problem worldwide and is associated with significant mortality. A popular method of modeling liver cancer in mice is plasmid hydrodynamic tail vein injection (HTVI)....
4.
Cortese A, Beecroft S, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, et al.
Nat Commun
. 2024 Jul;
15(1):6327.
PMID: 39068203
Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years...
5.
Pellerin D, Del Gobbo G, Couse M, Dolzhenko E, Nageshwaran S, Cheung W, et al.
Nat Genet
. 2024 Jun;
56(7):1366-1370.
PMID: 38937606
The factors driving or preventing pathological expansion of tandem repeats remain largely unknown. Here, we assessed the FGF14 (GAA)·(TTC) repeat locus in 2,530 individuals by long-read and Sanger sequencing and...
6.
Grosz B, Parmar J, Ellis M, Bryen S, Simons C, Reis A, et al.
J Peripher Nerv Syst
. 2024 Jun;
29(2):262-274.
PMID: 38860315
Background: Loss-of-function variants in MME (membrane metalloendopeptidase) are a known cause of recessive Charcot-Marie-Tooth Neuropathy (CMT). A deep intronic variant, MME c.1188+428A>G (NM_000902.5), was identified through whole genome sequencing (WGS)...
7.
Gunter H, Youlten S, Reis A, McCubbin T, Madala B, Wong T, et al.
Nat Commun
. 2024 Mar;
15(1):2480.
PMID: 38509097
The expression of genes encompasses their transcription into mRNA followed by translation into protein. In recent years, next-generation sequencing and mass spectrometry methods have profiled DNA, RNA and protein abundance...
8.
El-Wahsh S, Fellner A, Hobbs M, Copty J, Deveson I, Stevanovski I, et al.
Mov Disord Clin Pract
. 2024 Mar;
11(5):582-585.
PMID: 38497520
No abstract available.
9.
Dias K, Shrestha R, Schofield D, Evans C, OHeir E, Zhu Y, et al.
Genet Med
. 2024 Jan;
26(5):101076.
PMID: 38258669
Purpose: Genome sequencing (GS)-specific diagnostic rates in prospective tightly ascertained exome sequencing (ES)-negative intellectual disability (ID) cohorts have not been reported extensively. Methods: ES, GS, epigenetic signatures, and long-read sequencing...
10.
Reis A, Rapadas M, Hammond J, Gamaarachchi H, Stevanovski I, Kumaheri M, et al.
Nature
. 2023 Dec;
624(7992):602-610.
PMID: 38093003
Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets. Addressing this...