Deveson Ira - Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research

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论文共 123 篇作者统计合作学者相似作者

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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,Marion Stoll,Danqing Zhu,Ramesh K Narayanan,Bianca Grosz,Lisa Worgan,Pak Leng Cheong,Dennis Yeow,Laura Rudaks,Md Mehedi Hasan,Vanessa M Hayes,Marina Kennerson,Kishore R Kumar,Michael Hayes

Movement disorders clinical practiceno. 5 (2024): 582-585

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An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches

Laura Ivete Rudaks,Dennis Yeow,Karl Ng,Ira W. Deveson,Marina L. Kennerson,Kishore Raj Kumar

The Cerebellumpp.1-17, (2024)

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A Common Flanking Variant is Associated with Enhanced Meiotic Stability of the FGF14-SCA27B Locus

NATURE GENETICSno. 7 (2024)

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Sequencing and characterizing short tandem repeats in the human genome

Hope A. Tanudisastro,Ira W. Deveson,Harriet Dashnow,Daniel G. MacArthur

Nature Reviews Genetics（2024）

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Leveraging Basecaller’s Move Table to Generate a Lightweight k-mer Model

Hiruna Samarakoon,Yuk Kei Wan,Sri Parameswaran,Jonathan Göke,Hasindu Gamaarachchi,Ira W. Deveson

biorxiv（2024）

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482P Closing the Gap in Diagnosis of Neuropathies and Late-Onset Neurological Disorders – a Trans-Australia Collaboration

N. Laing,M. Kennerson,P. Lamont, S. Vucic, M. Davis,R. Bryson-Richardson,G. Ravenscroft, G. Perez-Siles,R. Ghaoui, R. Narayanan, P. McCombe,I. Deveson, S. Bryen, B. Grosz,M. Johari, A. Rick,C. Folland,C. Scriba, J. Parmar, M. Ellis

Neuromuscular Disorders（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,Ying Zhu,Futao Zhang, Krystle Standen,Ben Weisburd,Sarah L. Stenton,Alba Sanchis-Juan,Harrison Brand, Michael E. Talkowski,Alan Ma, Sondy Ghedia,Meredith Wilson,Sarah A. Sandaradura,Janine Smith,Benjamin Kamien,Anne Turner,Madhura Bakshi,Lesley C. Ades,David Mowat,Matthew Regan,George McGillivray,Ravi Savarirayan,Susan M. White,Tiong Yang Tan,Zornitza Stark,Natasha J. Brown,Luis A. Perez-Jurado,Emma Krzesinski,Matthew F. Hunter,Lauren Akesson,Andrew Paul Fennell,Alison Yeung,Tiffany Boughtwood,Lisa J. Ewans,Jennifer Kerkhof, Christopher Lucas,Louise Carey, Hugh French,Melissa Rapadas,Igor Stevanovski,Ira W. Deveson,Corrina Cliffe,George Elakis,Edwin P. Kirk,Tracy Dudding-Byth,Janice Fletcher,Rebecca Walsh,Mark A. Corbett,Thessa Kroes,Jozef Gecz,Cliff Meldrum,Simon Cliffe, Meg Wall,Sebastian Lunke,Kathryn North,David J. Amor,Michael Field,Bekim Sadikovic,Michael F. Buckley,Anne O'Donnell-Luria,Tony Roscioli

GENETICS IN MEDICINEno. 5 (2024)

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6 SCA27B identified as a common cause of unsolved ataxia in a cohort evaluated with long-read sequencing

Michel Tchan, Michael Hayes,Lisa Worgan,Kate Ahmad,Victor SC Fung, Kishore R Kumar,Karl Ng,Laura I Rudaks,Marina L Kennerson,Dennis Yeow, Sanjog Chintalaphani,Igor Stevanovski, Andre LM Reis, Pak L Cheong,Ira Deveson

BMJ Neurology Openno. Suppl 1 (2024)

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Streamlining Remote Nanopore Data Access with Slow5curl

Bonson Wong,James M. Ferguson, Jessica Y. Do, Hasindu Gamaarachchi,Ira W. Deveson

GIGASCIENCE (2024)

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