By Dr Ira William Deveson

Journal articles

Cortese A; Beecroft SJ; Facchini S; Curro R; Cabrera-Serrano M; Stevanovski I; Chintalaphani SR; Gamaarachchi H; Weisburd B; Folland C; Monahan G; Scriba CK; Dofash L; Johari M; Grosz BR; Ellis M; Fearnley LG; Tankard R; Read J; Merve A; Dominik N; Vegezzi E; Schnekenberg RP; Fernandez-Eulate G; Masingue M; Giovannini D; Delatycki MB; Storey E; Gardner M; Amor DJ; Nicholson G; Vucic S; Henderson RD; Robertson T; Dyke J; Fabian V; Mastaglia F; Davis MR; Kennerson M; Quinlivan R; Hammans S; Tucci A; Bahlo M; McLean CA; Laing NG; Stojkovic T; Houlden H; Hanna MG; Deveson IW; Lockhart PJ; Lamont PJ; Fahey MC; Bugiardini E; Ravenscroft G; Oflazer P; Başak NA; Kayserili H; Yeşil G; Malfatti E; Lilliker JB; Wicklund M; Pitceathly RDS; Brady S; Brais B; Pellerin D; Zuchner S; Danzi MC; Grandis M; Comi GP; Corti SP; Abati E; Toscano A; Manini A; Ghia A; Tassorelli C; Quartesan I; Simone R; Rossor AM; Reilly MM; Carroll L; Straub V; Udd B; Chen Z; Bonne G, 2024, 'A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry', Nature Communications, 15, http://dx.doi.org/10.1038/s41467-024-49950-2

Gunter HM; Youlten SE; Reis ALM; McCubbin T; Madala BS; Wong T; Stevanovski I; Cipponi A; Deveson IW; Santini NS; Kummerfeld S; Croucher PI; Marcellin E; Mercer TR, 2024, 'A universal molecular control for DNA, mRNA and protein expression', Nature Communications, 15, http://dx.doi.org/10.1038/s41467-024-46456-9

Cortese A; Beecroft SJ; Facchini S; Curro R; Cabrera-Serrano M; Stevanovski I; Chintalaphani SR; Gamaarachchi H; Weisburd B; Folland C; Monahan G; Scriba CK; Dofash L; Johari M; Grosz BR; Ellis M; Fearnley LG; Tankard R; Read J; Merve A; Dominik N; Vegezzi E; Schnekenberg RP; Fernandez-Eulate G; Masingue M; Giovannini D; Delatycki MB; Storey E; Gardner M; Amor DJ; Nicholson G; Vucic S; Henderson RD; Robertson T; Dyke J; Fabian V; Mastaglia F; Davis MR; Kennerson M; Bonne G; Chen Z; Udd B; Straub V; Carroll L; Reilly MM; Rossor AM; Simone R; Quartesan I; Tassorelli C; Ghia A; Manini A; Toscano A; Abati E; Corti SP; Comi GP; Grandis M; Danzi MC; Zuchner S; Pellerin D; Brais B; Brady S; Pitceathly RDS; Wicklund M; Lilleker JB; Malfatti E; Yeşil G; Kayserili H; Başak NA; Oflazer P; Quinlivan R; Hammans S; Tucci A; Bahlo M; McLean CA; Laing NG; Stojkovic T; Houlden H; Hanna MG; Deveson IW; Lockhart PJ; Lamont PJ; Fahey MC; Bugiardini E; Ravenscroft G, 2024, 'Correction to: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry (Nature Communications, (2024), 15, 1, (6327), 10.1038/s41467-024-49950-2)', Nature Communications, 15, http://dx.doi.org/10.1038/s41467-024-53151-2

Angeloni A; Fissette S; Kaya D; Hammond JM; Gamaarachchi H; Deveson IW; Klose RJ; Li W; Zhang X; Bogdanovic O, 2024, 'Extensive DNA methylome rearrangement during early lamprey embryogenesis', Nature Communications, 15, http://dx.doi.org/10.1038/s41467-024-46085-2

Pellerin D; Méreaux J-L; Boluda S; Danzi MC; Dicaire M-J; Davoine C-S; Genis D; Spurdens G; Ashton C; Hammond JM; Gerhart BJ; Chelban V; Le PU; Safisamghabadi M; Yanick C; Lee H; Nageshwaran SK; Matos-Rodrigues G; Jaunmuktane Z; Petrecca K; Akbarian S; Nussenzweig A; Usdin K; Renaud M; Bonnet C; Ravenscroft G; Saporta MA; Napierala JS; Houlden H; Deveson IW; Napierala M; Brice A; Molina Porcel L; Seilhean D; Zuchner S; Durr A; Brais B, 2024, 'Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.', Brain, http://dx.doi.org/10.1093/brain/awae312

Rudaks LI; Yeow D; Ng K; Deveson IW; Kennerson ML; Kumar KR, 2024, 'An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches', Cerebellum, 23, pp. 2152 - 2168, http://dx.doi.org/10.1007/s12311-024-01703-z

Samarakoon H; Liyanage K; Ferguson JM; Parameswaran S; Gamaarachchi H; Deveson IW, 2024, 'Interactive visualization of nanopore sequencing signal data with Squigualiser', Bioinformatics, 40, http://dx.doi.org/10.1093/bioinformatics/btae501

Pereira BA; Ritchie S; Chambers CR; Gordon KA; Magenau A; Murphy KJ; Nobis M; Tyma VM; Liew YF; Lucas MC; Naeini MM; Barkauskas DS; Chacon-Fajardo D; Howell AE; Parker AL; Warren SC; Reed DA; Lee V; Metcalf XL; Lee YK; O'Regan LP; Zhu J; Trpceski M; Fontaine ARM; Stoehr J; Rouet R; Lin X; Chitty JL; Porazinski S; Wu SZ; Filipe EC; Cadell AL; Holliday H; Yang J; Papanicolaou M; Lyons RJ; Zaratzian A; Tayao M; Da Silva A; Vennin C; Yin J; Dew AB; McMillan PJ; Goldstein LD; Deveson IW; Croucher DR; Samuel MS; Sim HW; Batten M; Chantrill L; Grimmond SM; Gill AJ; Samra J; Jeffry Evans TR; Sasaki T; Phan TG; Swarbrick A; Sansom OJ; Morton JP; Pajic M; Parker BL; Herrmann D; Cox TR; Timpson P, 2024, 'Temporally resolved proteomics identifies nidogen-2 as a cotarget in pancreatic cancer that modulates fibrosis and therapy response', Science Advances, 10, http://dx.doi.org/10.1126/sciadv.adl1197

Pellerin D; Méreaux J-L; Boluda S; Danzi MC; Dicaire M-J; Davoine C-S; Genis D; Spurdens G; Ashton C; Hammond JM; Gerhart BJ; Chelban V; Le PU; Safisamghabadi M; Yanick C; Lee H; Nageshwaran SK; Matos-Rodrigues G; Jaunmuktane Z; Petrecca K; Akbarian S; Nussenzweig A; Usdin K; Renaud M; Bonnet C; Ravenscroft G; Saporta MA; Napierala JS; Houlden H; Deveson IW; Napierala M; Brice A; Molina Porcel L; Seilhean D; Zuchner S; Durr A; Brais B, 2024, 'Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.', medRxiv, http://dx.doi.org/10.1101/2024.07.01.24309777

Pellerin D; Del Gobbo GF; Couse M; Dolzhenko E; Nageshwaran SK; Cheung WA; Xu IRL; Dicaire MJ; Spurdens G; Matos-Rodrigues G; Stevanovski I; Scriba CK; Rebelo A; Roth V; Wandzel M; Bonnet C; Ashton C; Agarwal A; Peter C; Hasson D; Tsankova NM; Dewar K; Lamont PJ; Laing NG; Renaud M; Houlden H; Synofzik M; Usdin K; Nussenzweig A; Napierala M; Chen Z; Jiang H; Deveson IW; Ravenscroft G; Akbarian S; Eberle MA; Boycott KM; Pastinen T; Brais B; Zuchner S; Danzi MC; Bateman E; Berngruber C; Cunial F; Davis CP; Dinh H; Doddapaneni H; Doheny K; Dugan-Perez S; Dutka T; Eichler EE; Empey P; Fazal S; Frazar C; Garimella K; Gearhart J; Gibbs R; Grimwood J; Gupta N; Hall SK; Han Y; Harvey WT; Hosea J; Hsieh PH; Hu J; Huang Y; Hwang J; Izydorczyk M; Jeong H; Khan Z; Kirkpatrick S; Kokosinski M; Kovaka S; Kurtas EN; Lakatos R; LaPlante E; Lee SK; Lennon N; Levy S; Li Q; Lichtenstein L; Logsdon GA; Lord C; Lorig-Roach R; Madmoud M; Maheshwari A; Marosy B; Mehta H; Metcalf G; Mohr D; Montano C; Morina L; Mostovoy Y; Musick A; Muzny D; Neph S; Paschall J; Patterson K; Pionzio A; Porubsky D, 2024, 'A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus', Nature Genetics, 56, pp. 1366 - 1370, http://dx.doi.org/10.1038/s41588-024-01808-5

Tanudisastro HA; Deveson IW; Dashnow H; MacArthur DG, 2024, 'Sequencing and characterizing short tandem repeats in the human genome', Nature Reviews Genetics, 25, pp. 460 - 475, http://dx.doi.org/10.1038/s41576-024-00692-3

Grosz BR; Parmar JM; Ellis M; Bryen S; Simons C; Reis ALM; Stevanovski I; Deveson IW; Nicholson G; Laing N; Wallis M; Ravenscroft G; Kumar KR; Vucic S; Kennerson ML, 2024, 'A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing', Journal of the Peripheral Nervous System, 29, pp. 262 - 274, http://dx.doi.org/10.1111/jns.12637

El-Wahsh S; Fellner A; Hobbs M; Copty J; Deveson I; Stevanovski I; Stoll M; Zhu D; Narayanan RK; Grosz B; Worgan L; Cheong PL; Yeow D; Rudaks L; Hasan MM; Hayes VM; Kennerson M; Kumar KR; Hayes M, 2024, 'An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia', Movement Disorders Clinical Practice, 11, pp. 582 - 585, http://dx.doi.org/10.1002/mdc3.14023

Dias KR; Shrestha R; Schofield D; Evans CA; O'Heir E; Zhu Y; Zhang F; Standen K; Weisburd B; Stenton SL; Sanchis-Juan A; Brand H; Talkowski ME; Ma A; Ghedia S; Wilson M; Sandaradura SA; Smith J; Kamien B; Turner A; Bakshi M; Adès LC; Mowat D; Regan M; McGillivray G; Savarirayan R; White SM; Tan TY; Stark Z; Brown NJ; Pérez-Jurado LA; Krzesinski E; Hunter MF; Akesson L; Fennell AP; Yeung A; Boughtwood T; Ewans LJ; Kerkhof J; Lucas C; Carey L; French H; Rapadas M; Stevanovski I; Deveson IW; Cliffe C; Elakis G; Kirk EP; Dudding-Byth T; Fletcher J; Walsh R; Corbett MA; Kroes T; Gecz J; Meldrum C; Cliffe S; Wall M; Lunke S; North K; Amor DJ; Field M; Sadikovic B; Buckley MF; O'Donnell-Luria A; Roscioli T, 2024, 'Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort', Genetics in Medicine, 26, http://dx.doi.org/10.1016/j.gim.2024.101076

Gamaarachchi H; Ferguson JM; Samarakoon H; Liyanage K; Deveson IW, 2024, 'Simulation of nanopore sequencing signal data with tunable parameters', Genome Research, 34, pp. 778 - 783, http://dx.doi.org/10.1101/gr.278730.123

Louie RY; Samir J; Cai C; McGuire H; Amos T; Fergsuson J; Deveson I; Adikari T; Bonomi M; Bishop D; Mason CE; Balderas R; Ruella M; Singh M; Gottlieb D; Blyth E; Micklethwaite K; Luciani F, 2024, 'Abstract 882: Harnessing single cell multi-omics data to identify predictors of clinical outcome in CD19 CAR T cell therapy', Cancer Research, 84, pp. 882 - 882, http://dx.doi.org/10.1158/1538-7445.am2024-882

Wong B; Ferguson JM; Do JY; Gamaarachchi H; Deveson IW, 2024, 'Streamlining remote nanopore data access with slow5curl', GigaScience, 13, http://dx.doi.org/10.1093/gigascience/giae016

Laing N; Kennerson M; Lamont P; Vucic S; Davis M; Bryson-Richardson R; Ravenscroft G; Perez-Siles G; Ghaoui R; Narayanan R; McCombe P; Deveson I; Bryen S; Grosz B; Johari M; Rick A; Folland C; Scriba C; Parmar J; Ellis M, 2024, '482P Closing the gap in diagnosis of neuropathies and late-onset neurological disorders – a trans-Australia collaboration', Neuromuscular Disorders, 43, pp. 104441.319 - 104441.319, http://dx.doi.org/10.1016/j.nmd.2024.07.328

Reis ALM; Rapadas M; Hammond JM; Gamaarachchi H; Stevanovski I; Ayuputeri Kumaheri M; Chintalaphani SR; Dissanayake DSB; Siggs OM; Hewitt AW; Llamas B; Brown A; Baynam G; Mann GJ; McMorran BJ; Easteal S; Hermes A; Jenkins MR; Pearson G; Roe Y; Mohamed J; Murray B; Ormond-Parker L; Kneipp E; Nugent K; Patel HR; Deveson IW, 2023, 'The landscape of genomic structural variation in Indigenous Australians', Nature, 624, pp. 602 - 610, http://dx.doi.org/10.1038/s41586-023-06842-7

Hort Y; Sullivan P; Wedd L; Fowles L; Stevanovski I; Deveson I; Simons C; Mallett A; Patel C; Furlong T; Cowley MJ; Shine J; Mallawaarachchi A, 2023, 'Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD', npj Genomic Medicine, 8, http://dx.doi.org/10.1038/s41525-023-00362-z

Louie RHY; Cai C; Samir J; Singh M; Deveson IW; Ferguson JM; Amos TG; McGuire HM; Gowrishankar K; Adikari T; Balderas R; Bonomi M; Ruella M; Bishop D; Gottlieb D; Blyth E; Micklethwaite K; Luciani F, 2023, 'CAR⁺ and CAR⁻ T cells share a differentiation trajectory into an NK-like subset after CD19 CAR T cell infusion in patients with B cell malignancies', Nature Communications, 14, http://dx.doi.org/10.1038/s41467-023-43656-7

Samarakoon H; Ferguson JM; Jenner SP; Amos TG; Parameswaran S; Gamaarachchi H; Deveson IW, 2023, 'Flexible and efficient handling of nanopore sequencing signal data with slow5tools', Genome Biology, 24, http://dx.doi.org/10.1186/s13059-023-02910-3

Wagner S; Whiteley SL; Castelli M; Patel HR; Deveson IW; Blackburn J; Holleley CE; Marshall Graves JA; Georges A, 2023, 'Gene expression of male pathway genes sox9 and amh during early sex differentiation in a reptile departs from the classical amniote model', BMC Genomics, 24, http://dx.doi.org/10.1186/s12864-023-09334-0

Ludington AJ; Hammond JM; Breen J; Deveson IW; Sanders KL, 2023, 'New chromosome-scale genomes provide insights into marine adaptations of sea snakes (Hydrophis: Elapidae)', BMC Biology, 21, http://dx.doi.org/10.1186/s12915-023-01772-2

Dominik N; Magri S; Currò R; Abati E; Facchini S; Corbetta M; MacPherson H; Di Bella D; Sarto E; Stevanovski I; Chintalaphani SR; Akcimen F; Manini A; Vegezzi E; Quartesan I; Montgomery KA; Pirota V; Crespan E; Perini C; Grupelli GP; Tomaselli PJ; Marques W; Ambrose JC; Arumugam P; Baple EL; Bleda M; Boardman-Pretty F; Boissiere JM; Boustred CR; Brittain H; Caulfield MJ; Chan GC; Craig CEH; Daugherty LC; De Burca A; Devereau A; Elgar G; Foulger RE; Fowler T; Furió-Tarí P; Gustavsson E; Hackett JM; Halai D; Hamblin A; Henderson S; Holman JE; Hubbard TJP; Ibáñez K; Jackson R; Jones LJ; Kasperaviciute D; Kayikci M; Lahnstein L; Lawson K; Leigh SEA; Leong IUS; Lopez FJ; Maleady-Crowe F; Mason J; McDonagh EM; Moutsianas L; Mueller M; Murugaesu N; Need AC; Odhams CA; Patch C; Perez-Gil D; Polychronopoulos D; Pullinger J; Rahim T; Rendon A; Riesgo-Ferreiro P; Rogers T; Ryten M; Rugginini B; Savage K; Sawant K; Scott RH; Siddiq A; Sieghart A; Smedley D; Smith KR; Sosinsky A; Spooner W; Stevens HE; Stuckey A; Sultana R; Thomas ERA; Thompson SR; Tregidgo C; Tucci A; Walsh E; Watters SA; Welland MJ; Williams E; Witkowska K; Wood SM; Zarowiecki M; Shaw J; Polke J, 2023, 'Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis', Brain, 146, pp. 5060 - 5069, http://dx.doi.org/10.1093/brain/awad240

Williams TC; Kroukamp H; Xu X; Wightman ELI; Llorente B; Borneman AR; Carpenter AC; Van Wyk N; Meier F; Collier TRV; Espinosa MI; Daniel EL; Walker RSK; Cai Y; Nevalainen HKM; Curach NC; Deveson IW; Mercer TR; Johnson DL; Mitchell LA; Bader JS; Stracquadanio G; Boeke JD; Goold HD; Pretorius IS; Paulsen IT, 2023, 'Parallel laboratory evolution and rational debugging reveal genomic plasticity to S. cerevisiae synthetic chromosome XIV defects', Cell Genomics, 3, http://dx.doi.org/10.1016/j.xgen.2023.100379

Barton K; Ferguson JM; Deveson IW; Falcinelli SD; James KS; Kirchherr J; Ramirez C; Gay CL; Hammond JM; Bevear B; Carswell SL; Margolis DM; Smith MA; Adimora AA; Archin NM, 2023, 'HIVepsilon-seq—scalable characterization of intact persistent proviral HIV reservoirs in women', Journal of Virology, 97, http://dx.doi.org/10.1128/jvi.00705-23

Samarakoon H; Ferguson JM; Gamaarachchi H; Deveson IW, 2023, 'Accelerated nanopore basecalling with SLOW5 data format', Bioinformatics, 39, http://dx.doi.org/10.1093/bioinformatics/btad352

Luciani F; Louie RY; Cai C; Singh M; Deveson I; Ferguson J; Amos T; McGuire H; Samir J; Gowrishankar K; Adikari T; Balderas R; Bishop D; Gottileb D; Blyth E; Micklethwaite K, 2023, 'CAR +and CAR −T cells differentiate into an NK-like subset that is associated with increased inflammatory cytokines following infusion', The Journal of Immunology, 210, pp. 159.15 - 159.15, http://dx.doi.org/10.4049/jimmunol.210.supp.159.15

Williams LJ; Qiu J; Ong TL; Deveson IW; Stevanovski I; Chintalaphani SR; Fellner A; Varikatt W; Morales-Briceno H; Tchan M; Kumar KR; Fung VSC, 2023, 'NOTCH2NLC GGC Repeat Expansion Presenting as Adult-Onset Cervical Dystonia', Movement Disorders Clinical Practice, 10, pp. 704 - 706, http://dx.doi.org/10.1002/mdc3.13677

Folland C; Ganesh V; Weisburd B; McLean C; Kornberg AJ; O’Donnell-Luria A; Rehm HL; Stevanovski I; Chintalaphani SR; Kennedy P; Deveson IW; Ravenscroft G, 2023, 'Transcriptome and Genome Analysis Uncovers a DMD Structural Variant', Neurology: Genetics, 9, http://dx.doi.org/10.1212/NXG.0000000000200064

Scriba CK; Stevanovski I; Chintalaphani SR; Gamaarachchi H; Ghaoui R; Ghia D; Henderson RD; Jordan N; Winkel A; Lamont PJ; Rodrigues MJ; Roxburgh RH; Weisburd B; Laing NG; Deveson IW; Davis MR; Ravenscroft G, 2023, 'RFC1 in an Australasian neurological disease cohort: Extending the genetic heterogeneity and implications for diagnostics', Brain Communications, 5, http://dx.doi.org/10.1093/braincomms/fcad208

Gunter HM; Youlten SE; Madala BS; Reis ALM; Stevanovski I; Wong T; Kummerfield SK; Deveson IW; Santini NS; Marcellin E; Mercer TR, 2022, 'Library adaptors with integrated reference controls improve the accuracy and reliability of nanopore sequencing', Nature Communications, 13, http://dx.doi.org/10.1038/s41467-022-34028-8

Gong B; Deveson IW; Mercer T; Johann DJ; Jones W; Tong W; Xu J, 2022, 'Ultra-deep sequencing data from a liquid biopsy proficiency study demonstrating analytic validity', Scientific Data, 9, http://dx.doi.org/10.1038/s41597-022-01276-8

Reis ALM; Deveson IW; Madala BS; Wong T; Barker C; Xu J; Lennon N; Tong W; Mercer TR, 2022, 'Using synthetic chromosome controls to evaluate the sequencing of difficult regions within the human genome', Genome Biology, 23, http://dx.doi.org/10.1186/s13059-021-02579-6

Reis ALM; Hammond JM; Stevanovski I; Arnold JC; McGregor IS; Deveson IW; Gururajan A, 2022, 'Sex-specific transcriptomic and epitranscriptomic signatures of PTSD-like fear acquisition', iScience, 25, http://dx.doi.org/10.1016/j.isci.2022.104861

Kim KW; Wang X; Adhikari A; Yeang M; Jenkins F; Naing Z; Walker GJ; Foster CSP; Stelzer-Braid S; Deveson I; Craig ME; Tedla N; Bull RA; Martinello M; Pinto AN; Chan R; Turville S; Rawlinson WD; van Hal S, 2022, 'Persistent high-level shedding of cultivable SARS-CoV-2 Delta virus 33 days after onset of COVID-19 in a hospitalized patient with pneumonia', Journal of Medical Virology, 94, pp. 4043 - 4046, http://dx.doi.org/10.1002/jmv.27832

Roca-Rada X; Tereso S; Rohrlach AB; Brito A; Williams MP; Umbelino C; Curate F; Deveson IW; Souilmi Y; Amorim A; Carvalho PC; Llamas B; Teixeira JC, 2022, 'A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics', The Lancet, 400, pp. 691 - 692, http://dx.doi.org/10.1016/S0140-6736(22)01476-3

Bartonicek N; Rouet R; Warren J; Loetsch C; Rodriguez GS; Walters S; Lin F; Zahra D; Blackburn J; Hammond JM; Reis ALM; Deveson IW; Zammit N; Zeraati M; Grey S; Christ D; Mattick JS; Chtanova T; Brink R; Dinger ME; Weatheritt RJ; Sprent J; King C, 2022, 'The retroelement Lx9 puts a brake on the immune response to virus infection', Nature, 608, pp. 757 - 765, http://dx.doi.org/10.1038/s41586-022-05054-9

Gamaarachchi H; Samarakoon H; Jenner SP; Ferguson JM; Amos TG; Hammond JM; Saadat H; Smith MA; Parameswaran S; Deveson IW, 2022, 'Fast nanopore sequencing data analysis with SLOW5', Nature Biotechnology, 40, pp. 1026 - 1029, http://dx.doi.org/10.1038/s41587-021-01147-4

Grosz BR; Stevanovski I; Negri S; Ellis M; Barnes S; Reddel S; Vucic S; Nicholson GA; Cortese A; Kumar KR; Deveson IW; Kennerson ML, 2022, 'Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy', Journal of the Peripheral Nervous System, 27, pp. 120 - 126, http://dx.doi.org/10.1111/jns.12485

Whiteley SL; Wagner S; Holleley CE; Deveson IW; Marshall Graves JA; Georges A, 2022, 'Truncated jarid2 and kdm6b transcripts are associated with temperature-induced sex reversal during development in a dragon lizard', Science Advances, 8, http://dx.doi.org/10.1126/sciadv.abk0275

Stevanovski I; Chintalaphani SR; Gamaarachchi H; Ferguson JM; Pineda SS; Scriba CK; Tchan M; Fung V; Ng K; Cortese A; Houlden H; Dobson-Stone C; Fitzpatrick L; Halliday G; Ravenscroft G; Davis MR; Laing NG; Fellner A; Kennerson M; Kumar KR; Deveson IW, 2022, 'Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing', Science Advances, 8, http://dx.doi.org/10.1126/sciadv.abm5386

Ferguson JM; Gamaarachchi H; Nguyen T; Gollon A; Tong S; Aquilina-Reid C; Bowen-James R; Deveson IW, 2022, 'InterARTIC: An interactive web application for whole-genome nanopore sequencing analysis of SARS-CoV-2 and other viruses', Bioinformatics, 38, pp. 1443 - 1446, http://dx.doi.org/10.1093/bioinformatics/btab846

Foster CSP; Stelzer-Braid S; Deveson IW; Bull RA; Yeang M; Au JP; Ruiz Silva M; van Hal SJ; Rockett RJ; Sintchenko V; Kim KW; Rawlinson WD, 2022, 'Assessment of Inter-Laboratory Differences in SARS-CoV-2 Consensus Genome Assemblies between Public Health Laboratories in Australia', Viruses, 14, http://dx.doi.org/10.3390/v14020185

Zhang X; Wagner S; Holleley CE; Deakin JE; Matsubara K; Deveson IW; O’Meally D; Patel HR; Ezaz T; Li Z; Wang C; Edwards M; Marshall Graves JA; Georges A, 2022, 'Sex-specific splicing of Z- and W-borne nr5a1 alleles suggests sex determination is controlled by chromosome conformation', Proceedings of the National Academy of Sciences of the United States of America, 119, http://dx.doi.org/10.1073/pnas.2116475119

Chintalaphani SR; Pineda SS; Deveson IW; Kumar KR, 2021, 'An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics', Acta Neuropathologica Communications, 9, http://dx.doi.org/10.1186/s40478-021-01201-x

Madala BS; Reis ALM; Deveson IW; Rawlinson W; Mercer TR, 2021, 'Chimeric synthetic reference standards enable cross-validation of positive and negative controls in SARS-CoV-2 molecular tests', Scientific Reports, 11, http://dx.doi.org/10.1038/s41598-021-81760-0

Gong B; Li D; Kusko R; Novoradovskaya N; Zhang Y; Wang S; Pabón-Peña C; Zhang Z; Lai K; Cai W; LoCoco JS; Lader E; Richmond TA; Mittal VK; Liu LC; Johann DJ; Willey JC; Bushel PR; Yu Y; Xu C; Chen G; Burgess D; Cawley S; Giorda K; Haseley N; Qiu F; Wilkins K; Arib H; Attwooll C; Babson K; Bao L; Bao W; Lucas AB; Best H; Bhandari A; Bisgin H; Blackburn J; Blomquist TM; Boardman L; Burgher B; Butler DJ; Chang CJ; Chaubey A; Chen T; Chierici M; Chin CR; Close D; Conroy J; Coleman JC; Craig DJ; Crawford E; del Pozo A; Deveson IW; Duncan D; Eterovic AK; Fan X; Foox J; Furlanello C; Ghosal A; Glenn S; Guan M; Haag C; Hang X; Happe S; Hennigan B; Hipp J; Hong H; Horvath K; Hu J; Hung LY; Jarosz M; Kerkhof J; Kipp B; Kreil DP; Łabaj P; Lapunzina P; Li P; Li QZ; Li W; Li Z; Liang Y; Liu S; Liu Z; Ma C; Marella N; Martín-Arenas R; Megherbi DB; Meng Q; Mieczkowski PA; Morrison T; Muzny D; Ning B; Parsons BL; Paweletz CP; Pirooznia M; Qu W; Raymond A; Rindler P; Ringler R; Sadikovic B; Mercer T; Thomas D, 2021, 'Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions', Genome Biology, 22, pp. 109, http://dx.doi.org/10.1186/s13059-021-02315-0

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