Igor Stevanovski
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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
11.
Scriba C, Stevanovski I, Chintalaphani S, Gamaarachchi H, Ghaoui R, Ghia D, et al.
Brain Commun
. 2023 Aug;
5(4):fcad208.
PMID: 37621409
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome is a progressive, generally late-onset, neurological disorder associated with biallelic pentanucleotide expansions in Intron 2 of the gene. The locus exhibits substantial genetic...
12.
Dominik N, Magri S, Curro R, Abati E, Facchini S, Corbetta M, et al.
Brain
. 2023 Jul;
146(12):5060-5069.
PMID: 37450567
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat expansions in RFC1. In this study, we leveraged whole genome...
13.
Hort Y, Sullivan P, Wedd L, Fowles L, Stevanovski I, Deveson I, et al.
NPJ Genom Med
. 2023 Jul;
8(1):16.
PMID: 37419908
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10% of patients remain undiagnosed after...
14.
Folland C, Ganesh V, Weisburd B, McLean C, Kornberg A, ODonnell-Luria A, et al.
Neurol Genet
. 2023 Apr;
9(2):e200064.
PMID: 37090938
Objective: Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the dystrophin gene (). Hypermethylated CGG expansions within 5' UTR are associated with an intellectual development disorder. Here, we...
15.
Williams L, Qiu J, Ong T, Deveson I, Stevanovski I, Chintalaphani S, et al.
Mov Disord Clin Pract
. 2023 Apr;
10(4):704-706.
PMID: 37070059
No abstract available.
16.
Gunter H, Youlten S, Madala B, Reis A, Stevanovski I, Wong T, et al.
Nat Commun
. 2022 Oct;
13(1):6437.
PMID: 36307482
Library adaptors are short oligonucleotides that are attached to RNA and DNA samples in preparation for next-generation sequencing (NGS). Adaptors can also include additional functional elements, such as sample indexes...
17.
Reis A, Hammond J, Stevanovski I, Arnold J, McGregor I, Deveson I, et al.
iScience
. 2022 Aug;
25(9):104861.
PMID: 36039298
Our understanding of the molecular pathology of posttraumatic stress disorder (PTSD) is evolving due to advances in sequencing technologies. With the recent emergence of Oxford Nanopore direct RNA-seq (dRNA-seq), it...
18.
Stevanovski I, Chintalaphani S, Gamaarachchi H, Ferguson J, Pineda S, Scriba C, et al.
Sci Adv
. 2022 Mar;
8(9):eabm5386.
PMID: 35245110
More than 50 neurological and neuromuscular diseases are caused by short tandem repeat (STR) expansions, with 37 different genes implicated to date. We describe the use of programmable targeted long-read...
19.
Grosz B, Stevanovski I, Negri S, Ellis M, Barnes S, Reddel S, et al.
J Peripher Nerv Syst
. 2022 Feb;
27(2):120-126.
PMID: 35224818
Biallelic mutations in sorbitol dehydrogenase (SORD) have been recently identified as a common cause of recessive axonal Charcot-Marie-Tooth neuropathy (CMT2). We aimed to assess a novel long-read sequencing approach to...
20.
Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology
Deveson I, Gong B, Lai K, LoCoco J, Richmond T, Schageman J, et al.
Nat Biotechnol
. 2021 Apr;
39(9):1115-1128.
PMID: 33846644
Circulating tumor DNA (ctDNA) sequencing is being rapidly adopted in precision oncology, but the accuracy, sensitivity and reproducibility of ctDNA assays is poorly understood. Here we report the findings of...