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Dr Emily Oates

Dr Emily Oates

Senior Lecturer
Science
School of Biotech & Biomolecular Science

Dr Emily Oates is a Senior Lecturer in Medical Genomics, head of the UNSW Medical Genomics Group, and a neurogenetics consultant for The Sydney Children’s Hospital Network. She has over 14 years of clinical experience in the diagnosis and management of childhood-onset neuromuscular disorders. She also has extensive expertise in the clinical characterisation of new neuromuscular disorders and the analysis of human genomic data for diagnostic and gene discovery purposes.

Research activities

 

The UNSW Medical Genomics Group is focused on the discovery of new human disease genes and on the analysis of the clinical-, RNA transcript-, protein- and tissue-level impacts of disease-causing mutations within known and emerging human disease genes. We use this information to increase genetic diagnosis rates for affected individuals and their families, to advance our understanding of the clinical characteristics, natural history, and underlying pathogenesis of the genetic disorders we study, and to develop potential new therapies for these disorders.

Current positions

  • UNSW Senior Lecturer (Medical Genomics) & Research Team Leader
  • Clinical Geneticist (HGSA)
  • Honorary Staff Specialist (Sydney Children’s Hospital Network)

Areas of expertise

  • Genetics
  • Genomics
  • Transcriptomics
  • Neuromuscular disorders
  • Rare diseases
  • RNA sequencing
  • Whole genome sequencing
  • Diagnostics and disease characterisation
  • Striated muscle biology
  • TTN (titin) and disorders caused by disease-causing variants within this gene ('Titinopathies")
E-mail
e.oates@unsw.edu.au
Location
Room 320C, Level 3, Biological Sciences North Building D26 School of Biotechnology and Biomolecular Sciences
  • Journal articles | 2025
    Coppens S; Deconinck N; Sullivan P; Smolnikov A; Clayton JS; Griffin KR; Jones KJ; Vilain CN; Kadhim H; Bryen SJ; Faiz F; Waddell LB; Evesson FJ; Bakshi M; Pinner JR; Charlton A; Brammah S; Graf NS; Krivanek M; Tay CG; Foulds NC; Illingworth MA; Thomas NH; Ellard S; Mazanti I; Park SM; French CE; Brewster J; Belteki G; Hoodbhoy S; Allinson K; Krishnakumar D; Baynam G; Wood BM; Ward M; Vijayakumar K; Syed A; Murugan A; Majumdar A; Scurr IJ; Splitt MP; Moldovan C; de Silva DC; Senanayake K; Gardeitchik T; Arens Y; Cooper ST; Laing NG; Raymond FL; Jungbluth H; Kamsteeg EJ; Manzur A; Corley SM; Ravenscroft G; Wilkins MR; Cowley MJ; Pinese M; Ferreiro A; Richard I; Bönnemann CG; Donkervoort S; Luk HM; Sampaio H; Farrar MA; Mowat D; Fitzsimons RB; Vuillerot C; Phadke R; Davis MR; Muntoni F; Oates EC, 2025, 'Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum', Annals of Neurology, 97, pp. 611 - 628, http://dx.doi.org/10.1002/ana.27087
    Journal articles | 2025
    Su Z; Fang M; Smolnikov A; Vafaee F; Dinger ME; Oates EC, 2025, 'Post-transcriptional regulation supports the homeostatic expression of mature RNA', Briefings in Bioinformatics, 26, http://dx.doi.org/10.1093/bib/bbaf027
    Journal articles | 2024
    Marchant RG; Bryen SJ; Bahlo M; Cairns A; Chao KR; Corbett A; Davis MR; Ganesh VS; Ghaoui R; Jones KJ; Kornberg AJ; Lek M; Liang C; MacArthur DG; Oates EC; O'Donnell-Luria A; O'Grady GL; Osei-Owusu IA; Rafehi H; Reddel SW; Roxburgh RH; Ryan MM; Sandaradura SA; Scott LW; Valkanas E; Weisburd B; Young H; Evesson FJ; Waddell LB; Cooper ST, 2024, 'Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone', Annals of Clinical and Translational Neurology, 11, pp. 1250 - 1266, http://dx.doi.org/10.1002/acn3.52041
    Journal articles | 2024
    Smolnikov A; Padoani D; Jurczyluk J; Su Z; Hamey J; Wilkins M; Yuen M; Oates E, 2024, '492P Mass spectrometry as a technique for robust quantification of titin and other large muscle disease-associated proteins', Neuromuscular Disorders, 43, pp. 104441.329 - 104441.329, http://dx.doi.org/10.1016/j.nmd.2024.07.338
    Journal articles | 2024
    Töpf A; Cox D; Zaharieva IT; Di Leo V; Sarparanta J; Jonson PH; Sealy IM; Smolnikov A; White RJ; Vihola A; Savarese M; Merteroglu M; Wali N; Laricchia KM; Venturini C; Vroling B; Stenton SL; Cummings BB; Harris E; Marini-Bettolo C; Diaz-Manera J; Henderson M; Barresi R; Duff J; England EM; Patrick J; Al-Husayni S; Biancalana V; Beggs AH; Bodi I; Bommireddipalli S; Bönnemann CG; Cairns A; Chiew MT; Claeys KG; Cooper ST; Davis MR; Donkervoort S; Erasmus CE; Fassad MR; Genetti CA; Grosmann C; Jungbluth H; Kamsteeg EJ; Lornage X; Löscher WN; Malfatti E; Manzur A; Martí P; Mongini TE; Muelas N; Nishikawa A; O’Donnell-Luria A; Ogonuki N; O’Grady GL; O’Heir E; Paquay S; Phadke R; Pletcher BA; Romero NB; Schouten M; Shah S; Smuts I; Sznajer Y; Tasca G; Taylor RW; Tuite A; Van den Bergh P; VanNoy G; Voermans NC; Wanschitz JV; Wraige E; Yoshimura K; Oates EC; Nakagawa O; Nishino I; Laporte J; Vilchez JJ; MacArthur DG; Sarkozy A; Cordell HJ; Udd B; Busch-Nentwich EM; Muntoni F; Straub V, 2024, 'Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy', Nature Genetics, 56, pp. 395 - 407, http://dx.doi.org/10.1038/s41588-023-01651-0
    Journal articles | 2023
    Dofash LNH; Monahan GV; Servián-Morilla E; Rivas E; Faiz F; Sullivan P; Oates E; Clayton J; Taylor RL; Davis MR; Beilharz T; Laing NG; Cabrera-Serrano M; Ravenscroft G, 2023, 'A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism', Human Molecular Genetics, 32, pp. 1127 - 1136, http://dx.doi.org/10.1093/hmg/ddac272
    Journal articles | 2023
    Johnson R; Otway R; Chin E; Horvat C; Ohanian M; Wilcox JAL; Su Z; Prestes P; Smolnikov A; Soka M; Guo G; Rath E; Chakravorty S; Chrzanowski L; Hayward CS; Keogh AM; MacDonald PS; Giannoulatou E; Chang ACY; Oates EC; Charchar F; Seidman JG; Seidman CE; Hegde M; Fatkin D, 2023, 'DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies', Circulation: Genomic and Precision Medicine, 16, pp. 421 - 430, http://dx.doi.org/10.1161/CIRCGEN.123.004221
    Journal articles | 2023
    Katz M; Waddell LB; Yuen M; Bryen SJ; Oates E; Garton FC; Robertson T; Henderson RD; Cooper ST; McCombe PA, 2023, 'Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant', Frontiers in Neurology, 14, http://dx.doi.org/10.3389/fneur.2023.1055639
    Journal articles | 2023
    Sullivan PJ; Gayevskiy V; Davis RL; Wong M; Mayoh C; Mallawaarachchi A; Hort Y; McCabe MJ; Beecroft S; Jackson MR; Arts P; Dubowsky A; Laing N; Dinger ME; Scott HS; Oates E; Pinese M; Cowley MJ, 2023, 'Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications', Genome Biology, 24, http://dx.doi.org/10.1186/s13059-023-02936-7
    Journal articles | 2022
    Bournazos AM; Riley LG; Bommireddipalli S; Ades L; Akesson LS; Al-Shinnag M; Alexander SI; Archibald AD; Balasubramaniam S; Berman Y; Beshay V; Boggs K; Bojadzieva J; Brown NJ; Bryen SJ; Buckley MF; Chong B; Davis MR; Dawes R; Delatycki M; Donaldson L; Downie L; Edwards C; Edwards M; Engel A; Ewans LJ; Faiz F; Fennell A; Field M; Freckmann ML; Gallacher L; Gear R; Goel H; Goh S; Goodwin L; Hanna B; Harraway J; Higgins M; Ho G; Hopper BK; Horton AE; Hunter MF; Huq AJ; Josephi-Taylor S; Joshi H; Kirk E; Krzesinski E; Kumar KR; Lemckert F; Leventer RJ; Lindsey-Temple SE; Lunke S; Ma A; Macaskill S; Mallawaarachchi A; Marty M; Marum JE; McCarthy HJ; Menezes MP; McLean A; Milnes D; Mohammad S; Mowat D; Niaz A; Palmer EE; Patel C; Patel SG; Phelan D; Pinner JR; Rajagopalan S; Regan M; Rodgers J; Rodrigues M; Roxburgh RH; Sachdev R; Roscioli T; Samarasekera R; Sandaradura SA; Savva E; Schindler T; Shah M; Sinnerbrink IB; Smith JM; Smith RJ; Springer A; Stark Z; Strom SP; Sue CM; Tan K; Tan TY; Tantsis E; Tchan MC; Thompson BA; Trainer AH; van Spaendonck-Zwarts K; Walsh R; Warwick L; White S; White SM; Williams MG, 2022, 'Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants', Genetics in Medicine, 24, pp. 130 - 145, http://dx.doi.org/10.1016/j.gim.2021.09.001
    Journal articles | 2022
    Dofash L; Monahan G; Servián-Morilla E; Rivas E; Faiz F; Sullivan P; Oates E; Clayton J; Taylor R; Davis M; Beilharz T; Laing N; Cabrera-Serrano M; Ravenscroft G, 2022, 'P.01 A KLHL40 3′UTR splice-altering variant causes milder NEM8', Neuromuscular Disorders, 32, pp. S45 - S45, http://dx.doi.org/10.1016/j.nmd.2022.07.015
    Journal articles | 2021
    Bryen SJ; Oates EC; Evesson FJ; Lu JK; Waddell LB; Joshi H; Ryan MM; Cummings BB; McLean CA; MacArthur DG; Kornberg AJ; Cooper ST, 2021, 'Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy', European Journal of Human Genetics, 29, pp. 61 - 66, http://dx.doi.org/10.1038/s41431-020-00715-7
    Journal articles | 2021
    Dofash L; Faiz F; Servián-Morilla E; Rivas E; Sullivan P; Oates E; Clayton J; Taylor R; Davis M; Laing N; Cabrera-Serrano M; Ravenscroft G, 2021, 'CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES', Neuromuscular Disorders, 31, pp. S60 - S60, http://dx.doi.org/10.1016/j.nmd.2021.07.059
    Journal articles | 2021
    Dworschak GC; Punetha J; Kalanithy JC; Mingardo E; Erdem HB; Akdemir ZC; Karaca E; Mitani T; Marafi D; Fatih JM; Jhangiani SN; Hunter JV; Dakal TC; Dhabhai B; Dabbagh O; Alsaif HS; Alkuraya FS; Maroofian R; Houlden H; Efthymiou S; Dominik N; Salpietro V; Sultan T; Haider S; Bibi F; Thiele H; Hoefele J; Riedhammer KM; Wagner M; Guella I; Demos M; Keren B; Buratti J; Charles P; Nava C; Héron D; Heide S; Valkanas E; Waddell LB; Jones KJ; Oates EC; Cooper ST; MacArthur D; Syrbe S; Ziegler A; Platzer K; Okur V; Chung WK; O’Shea SA; Alcalay R; Fahn S; Mark PR; Guerrini R; Vetro A; Hudson B; Schnur RE; Hoganson GE; Burton JE; McEntagart M; Lindenberg T; Yilmaz Ö; Odermatt B; Pehlivan D; Posey JE; Lupski JR; Reutter H, 2021, 'Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies', Genetics in Medicine, 23, pp. 1715 - 1725, http://dx.doi.org/10.1038/s41436-021-01196-9
    Journal articles | 2021
    Rees M; Nikoopour R; Fukuzawa A; Kho AL; Fernandez-Garcia MA; Wraige E; Bodi I; Deshpande C; Özdemir Ö; Daimagüler HS; Pfuhl M; Holt M; Brandmeier B; Grover S; Fluss J; Longman C; Farrugia ME; Matthews E; Hanna M; Muntoni F; Sarkozy A; Phadke R; Quinlivan R; Oates EC; Schröder R; Thiel C; Reimann J; Voermans N; Erasmus C; Kamsteeg EJ; Konersman C; Grosmann C; McKee S; Tirupathi S; Moore SA; Wilichowski E; Hobbiebrunken E; Dekomien G; Richard I; Van den Bergh P; Domínguez-González C; Cirak S; Ferreiro A; Jungbluth H; Gautel M, 2021, 'Making sense of missense variants in TTN-related congenital myopathies', Acta Neuropathologica, 141, pp. 431 - 453, http://dx.doi.org/10.1007/s00401-020-02257-0
    Journal articles | 2021
    Smolnikov A; Oates E; Wilkins M, 2021, 'APPLICATION OF NEXT GENERATION TECHNOLOGIES', Neuromuscular Disorders, 31, pp. S145 - S145, http://dx.doi.org/10.1016/j.nmd.2021.07.338
    Journal articles | 2021
    Waddell LB; Bryen SJ; Cummings BB; Bournazos A; Evesson FJ; Joshi H; Marshall JL; Tukiainen T; Valkanas E; Weisburd B; Sadedin S; Davis MR; Faiz F; Gooding R; Sandaradura SA; O'Grady GL; Tchan MC; Mowat DR; Oates EC; Farrar MA; Sampaio H; Ma A; Neas K; Wang MX; Charlton A; Chan C; Kenwright DN; Graf N; Arbuckle S; Clarke NF; MacArthur DG; Jones KJ; Lek M; Cooper ST, 2021, 'WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase', Neurology: Genetics, 7, http://dx.doi.org/10.1212/NXG.0000000000000554
    Journal articles | 2020
    Savarese M; Vihola A; Oates EC; Barresi R; Fiorillo C; Tasca G; Jokela M; Sarkozy A; Luo S; Díaz-Manera J; Ehrstedt C; Rojas-García R; Sáenz A; Muelas N; Lonardo F; Fodstad H; Qureshi T; Johari M; Välipakka S; Luque H; Petiot P; de Munain AL; Pane M; Mercuri E; Torella A; Nigro V; Astrea G; Santorelli FM; Bruno C; Kuntzer T; Illa I; Vílchez JJ; Julien C; Ferreiro A; Malandrini A; Zhao CB; Casar-Borota O; Davis M; Muntoni F; Hackman P; Udd B, 2020, 'Genotype–phenotype correlations in recessive titinopathies', Genetics in Medicine, 22, pp. 2029 - 2040, http://dx.doi.org/10.1038/s41436-020-0914-2
    Journal articles | 2019
    Beecroft S; van de Locht M; de Winter J; Ottenheijm C; Sewry C; Mohammed S; Ryan M; Woodcock I; Sanders L; Gooding R; Davis M; Oates E; Laing N; Ravenscroft G; McLean C; Jungbluth H, 2019, 'Recessive MYH7-related myopathy in two families', NEUROMUSCULAR DISORDERS, 29, pp. S80 - S80, http://dx.doi.org/10.1016/j.nmd.2019.06.164
    Journal articles | 2019
    Beecroft SJ; van de Locht M; de Winter JM; Ottenheijm CA; Sewry CA; Mohammed S; Ryan MM; Woodcock IR; Sanders L; Gooding R; Davis MR; Oates EC; Laing NG; Ravenscroft G; McLean CA; Jungbluth H, 2019, 'Recessive MYH7-related myopathy in two families', Neuromuscular Disorders, 29, pp. 456 - 467, http://dx.doi.org/10.1016/j.nmd.2019.04.002
    Journal articles | 2019
    Böhm J; Malfatti E; Oates E; Jones K; Brochier G; Boland A; Deleuze JF; Romero NB; Laporte J, 2019, 'Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures', Journal of Medical Genetics, 56, pp. 617 - 621, http://dx.doi.org/10.1136/jmedgenet-2018-105390
    Journal articles | 2019
    Coppens S; Deconinck N; Phadke R; Sewry C; Kadhim H; Tay C; Bakshi M; de Silva D; Thomas N; Park S; French C; Ward M; Arens Y; Manzur A; Ravenscroft G; Laing N; Kamsteeg E; Davis M; Muntoni F; Oates E, 2019, 'Congenital titinopathy as a cause of severe to profound congenital weakness and early death', NEUROMUSCULAR DISORDERS, 29, pp. S137 - S137, http://dx.doi.org/10.1016/j.nmd.2019.06.355
    Journal articles | 2019
    Johnson R; Peters S; Ingles J; Correnti G; Ingrey A; Mountain H; Zentner D; Thompson T; Oates E; Ronan A; Pachter N; Haan E; Van Spaendonck-Zwarts K; Semsarian C; McGaughran J; Atherton J; James P; Fatkin D, 2019, 'Penetrance of Dilated Cardiomyopathy in Families with Truncating TTN Variants: a National Perspective', Heart, Lung and Circulation, 28, pp. S140 - S140, http://dx.doi.org/10.1016/j.hlc.2019.06.019
    Journal articles | 2019
    Phadke R; Sarkozy A; Oates E; Mein R; Bodi I; Feng L; Manzur A; Thomas N; Illingworth M; Mazanti I; Ellard S; Sewry C; Gautel M; Jungbluth H; Muntoni F, 2019, 'P.236Myofibres with subsarcolemmal rims and/or central aggregates of mitochondria (SRCAM) are prevalent in congenital titinopathies', Neuromuscular Disorders, 29, pp. S135 - S135, http://dx.doi.org/10.1016/j.nmd.2019.06.350
    Journal articles | 2019
    Sarkozy A; Mein R; Oates E; Zaharieva I; Jungbluth H; Manzur A; Robb S; Munot P; Feng L; Sewry C; Phadke R; Muntoni F, 2019, 'P.238The Dubowitz neuromuscular centre experience in TTN gene analysis in UK patients with congenital myopathies', Neuromuscular Disorders, 29, pp. S136 - S136, http://dx.doi.org/10.1016/j.nmd.2019.06.352
    Journal articles | 2018
    Böhm J; Malfatti E; Oates E; Jones K; Romero N; Laporte J, 2018, 'CONGENITAL MYOPATHIES: GENERAL AND RYR1', Neuromuscular Disorders, 28, pp. S44 - S45, http://dx.doi.org/10.1016/j.nmd.2018.06.074
    Journal articles | 2018
    Oates E; Jones K; Coppens S; Deconinck N; Ravenscroft G; Luk H; Bakshi M; Pinner J; Foulds N; Illingworth M; Thomas N; Ellard S; Mazanti I; Cooper S; Muntoni F; Davis M; Laing N, 2018, 'Congenital titinopathy: severe and atypical presentations', NEUROMUSCULAR DISORDERS, 28, pp. S104 - S104, http://dx.doi.org/10.1016/j.nmd.2018.06.287
    Journal articles | 2018
    Oates E; Jones K; Donkervoort S; Charlton A; Brammah S; Smith J; Ware J; Yau K; Swanson L; Whiffin N; Peduto A; Bournazos A; Waddell L; Farrar M; Sampaio H; Teoh H; Lamont P; Mowat D; Fitzsimmons R; Corbett A; Ryan M; O'Grady G; Sandaradura S; Ghaoui R; Joshi H; Marshall J; Nolan M; Kaur S; Punetha J; Topf A; Harris E; Bakshi M; Genetti C; Marttila M; Werkauff U; Streichenberger N; Pestronk A; Mazanti I; Pinner J; Vuillerot C; Grosmann C; Camacho A; Mohassel P; Leach M; Foley A; Bharucha-Goeber D; Collins J; Connolly A; Gilbreath H; Iannaccone S; Castro D; Cummings B; Webster R; Lazaro L; Vissing J; Coppens S; Deconinck N; Luk H; Thomas N; Foulds N; Illingworth M; Ellard S; McLean C; Phadke R; Ravenscroft G; Witting N; Hackman P; Clarke N; Lek M; Beggs A; Bonnemann C; MacArthur D; Granzier H; Davis M; Laing N, 2018, 'Congenital titinopathy: comprehensive characterisation & pathogenic insights', Annals or Neurology, 83, pp. 1105 - 1124, http://dx.doi.org/10.1002/ana.25241
    Journal articles | 2017
    Cummings BB; Marshall JL; Tukiainen T; Lek M; Donkervoort S; Foley AR; Bolduc V; Waddell LB; Sandaradura SA; O'Grady GL; Estrella E; Reddy HM; Zhao F; Weisburd B; Karczewski KJ; O'Donnell-Luria AH; Birnbaum D; Sarkozy A; Hu Y; Gonorazky H; Claeys K; Joshi H; Bournazos A; Oates EC; Ghaoui R; Davis MR; Laing NG; Topf A; Kang PB; Beggs AH; North KN; Straub V; Dowling JJ; Muntoni F; Clarke NF; Cooper ST; Bönnemann CG; MacArthur DG; Ardlie KG; Getz G; Gelfand ET; Segrè AV; Aguet F; Sullivan TJ; Li X; Nedzel JL; Trowbridge CA; Hadley K; Huang KH; Noble MS; Nguyen DT; Nobel AB; Wright FA; Shabalin AA; Palowitch JJ; Zhou YH; Dermitzakis ET; McCarthy MI; Payne AJ; Lappalainen T; Castel S; Kim-Hellmuth S; Mohammadi P; Battle A; Parsana P; Mostafavi S; Brown A; Ongen H; Delaneau O; Panousis N; Howald C; Van De Bunt M; Guigo R; Monlong J; Reverter F; Garrido D; Munoz M; Bogu G; Sodaei R; Papasaikas P; Ndungu AW; Montgomery SB; Li X; Fresard L; Davis JR; Tsang EK; Zappala Z; Abell NS; Gloudemans MJ; Liu B; Damani FN; Saha A; Kim Y; Strober BJ; He Y; Stephens M; Pritchard JK; Wen X; Urbut S; Cox NJ, 2017, 'Improving genetic diagnosis in Mendelian disease with transcriptome sequencing', Science Translational Medicine, 9, http://dx.doi.org/10.1126/scitranslmed.aal5209
    Journal articles | 2017
    Oates EC; Yau KS; Jones K; Smith JE; Donkervoort S; Swanson L; Charlton A; Brammah S; Peduto AJ; Richard I; Ferreiro A; Hoffman E; Bushby K; Straub V; Udd B; Lek M; MacArthur DG; Granzier H; Beggs A; Bönnemann CG; North KN; Davis MR; Laing NG, 2017, 'Clinical characterisation of a large international congenital titinopathy cohort', Neuromuscular Disorders, 27, pp. S37 - S37, http://dx.doi.org/10.1016/s0960-8966(17)30328-0
    Journal articles | 2016
    O'Grady GL; Lek M; Lamande SR; Waddell L; Oates EC; Punetha J; Ghaoui R; Sandaradura SA; Best H; Kaur S; Davis M; Laing NG; Muntoni F; Hoffman E; MacArthur DG; Clarke NF; Cooper S; North K, 2016, 'Diagnosis and etiology of congenital muscular dystrophy: We are halfway there', Annals of Neurology, 80, pp. 101 - 111, http://dx.doi.org/10.1002/ana.24687
    Journal articles | 2016
    Oates E; Yau K; Donkervoort S; Swanson L; Brammah S; Topf A; Richard I; Ferreiro A; Hoffman E; Bushby K; Straub V; Udd B; Lek M; MacArthur D; Granzier H; Beggs A; Bonnemann C; North K; Davis M; Laing N, 2016, 'Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement', NEUROMUSCULAR DISORDERS, 26, pp. S89 - S89, http://dx.doi.org/10.1016/j.nmd.2016.06.018
    Journal articles | 2016
    Punetha J; Kesari A; Uapinyoying P; Giri M; Clarke NF; Waddell LB; North KN; Ghaoui R; O'Grady GL; Oates EC; Sandaradura SA; Bönnemann CG; Donkervoort S; Plotz PH; Smith EC; Tesi-Rocha C; Bertorini TE; Tarnopolsky MA; Reitter B; Hausmanowa-Petrusewicz I; Hoffman EP, 2016, 'Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases', Journal of Neuromuscular Diseases, 3, pp. 209 - 225, http://dx.doi.org/10.3233/JND-160151
    Journal articles | 2016
    Zaharieva IT; Thor MG; Oates EC; Van Karnebeek C; Hendson G; Blom E; Witting N; Rasmussen M; Gabbett MT; Ravenscroft G; Sframeli M; Suetterlin K; Sarkozy A; D'Argenzio L; Hartley L; Matthews E; Pitt M; Vissing J; Ballegaard M; Krarup C; Slørdahl A; Halvorsen H; Ye XC; Zhang LH; Løkken N; Werlauff U; Abdelsayed M; Davis MR; Feng L; Phadke R; Sewry CA; Morgan JE; Laing NG; Vallance H; Ruben P; Hanna MG; Lewis S; Kamsteeg EJ; Männikkö R; Muntoni F, 2016, 'Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy', Brain, 139, pp. 674 - 691, http://dx.doi.org/10.1093/brain/awv352
    Journal articles | 2015
    O'Grady GL; Best HA; Oates EC; Kaur S; Charlton A; Brammah S; Punetha J; Kesari A; North KN; Ilkovski B; Hoffman EP; Clarke NF, 2015, 'Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine', European Journal of Human Genetics, 23, pp. 883 - 886, http://dx.doi.org/10.1038/ejhg.2014.169
    Journal articles | 2015
    Rossor AM; Oates EC; Salter HK; Liu Y; Murphy SM; Schule R; Gonzales MA; Scoto M; Phadke R; Sewry CA; Houlden H; Jordanova A; Tournev I; Chamova T; Litvinenko I; Zuchner S; Herrmann DN; Blake J; Sowden JE; Acsadi G; Rodriguez ML; Menezes MP; Clarke NF; Auer Grumbach M; Bullock SL; Muntoni F; Reilly MM; North KN, 2015, 'Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy', Brain, 138, pp. e392, http://dx.doi.org/10.1093/brain/awv160
    Journal articles | 2015
    Rossor AM; Oates EC; Salter HK; Liu Y; Murphy SM; Schule R; Gonzalez MA; Scoto M; Phadke R; Sewry CA; Houlden H; Jordanova A; Tournev I; Chamova T; Litvinenko I; Zuchner S; Herrmann DN; Blake J; Sowden JE; Acsadi G; Rodriguez ML; Menezes MP; Clarke NF; Grumbach MA; Bullock SL; Muntoni F; Reilly MM; North KN, 2015, 'Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2', Brain, 138, pp. 293 - 310, http://dx.doi.org/10.1093/brain/awu356
    Journal articles | 2015
    Zaharieva I; Thor M; Oates E; Karnebeek C; Kamsteeg E; Hartley L; Blom E; Witting N; Rasmussen M; Gabbett M; Ravenscroft G; Hanna M; Ruben P; Lewis S; Mannikko R; Muntoni F, 2015, 'Recessive loss-of-function SCN4A mutations associated with a novel phenotype of congenital myopathy', NEUROMUSCULAR DISORDERS, 25, pp. S275 - S276, http://dx.doi.org/10.1016/j.nmd.2015.06.324
    Journal articles | 2014
    Payne JM; Pickering T; Porter M; Oates EC; Walia N; Prelog K; North KN, 2014, 'Longitudinal assessment of cognition and T2-hyperintensities in NF1: An 18-year study', American Journal of Medical Genetics, Part A, 164, pp. 661 - 665, http://dx.doi.org/10.1002/ajmg.a.36338
    Journal articles | 2013
    Gibbs EM; Clarke NF; Rose K; Oates EC; Webster R; Feldman EL; Dowling JJ, 2013, 'Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy', Journal of Molecular Medicine, 91, pp. 727 - 737, http://dx.doi.org/10.1007/s00109-013-0994-4
    Journal articles | 2013
    Oates EC; Payne JM; Foster SL; Clarke NF; North KN, 2013, 'Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge', American Journal of Medical Genetics, Part A, 161, pp. 659 - 666, http://dx.doi.org/10.1002/ajmg.a.35840
    Journal articles | 2013
    Oates EC; Rossor AM; Hafezparast M; Gonzalez M; Speziani F; Macarthur DG; Lek M; Cottenie E; Scoto M; Foley AR; Hurles M; Houlden H; Greensmith L; Auer-Grumbach M; Pieber TR; Strom TM; Schule R; Herrmann DN; Sowden JE; Acsadi G; Menezes MP; Clarke NF; Züchner S; Muntoni F; North KN; Reilly MM, 2013, 'Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia', American Journal of Human Genetics, 92, pp. 965 - 973, http://dx.doi.org/10.1016/j.ajhg.2013.04.018
    Journal articles | 2012
    Oates EC; Reddel S; Rodriguez ML; Gandolfo LC; Bahlo M; Hawke SH; Lamandé SR; Clarke NF; North KN, 2012, 'Autosomal dominant congenital spinal muscular atrophy: A true form of spinal muscular atrophy caused by early loss of anterior horn cells', Brain, 135, pp. 1714 - 1723, http://dx.doi.org/10.1093/brain/aws108
    Journal articles | 2010
    Kouwenhoven EN; va Heeringen SJ; Tena JJ; Oti M; Dutilh BE; Alonso ME; de la Elisa CM; Smeenk L; Rinne T; Parsaulian L; Bolat E; Jurgelenaite R; Huynen MA; Hoischen A; Veltman JA; Brunner HG; Roscioli T; Oates E; Wilson M; Manzanares M; José LGS; Stunnenberg HG; Lohrum M; van Bokhoven H; Zhou H, 2010, 'Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 shfm1 locus', PLoS Genetics, 6, pp. e1001065, http://dx.doi.org/10.1371/journal.pgen.1001065
  • Preprints | 2024
    Su Z; Fang M; Smolnikov A; Dinger M; Oates E; Vafaee F, 2024, Multifaceted Representation of Genes via Deep Learning of Gene Expression Networks, http://dx.doi.org/10.1101/2024.03.07.583777
    Preprints | 2024
    Su Z; Fang M; Smolnikov A; Vafaee F; Dinger M; Oates E, 2024, Genes in Humans and Mice: Insights from Deep learning of 777K Bulk Transcriptomes, http://dx.doi.org/10.1101/2024.04.01.587517
    Preprints | 2022
    Dofash LNH; Monahan G; Servián-Morilla E; Rivas E; Faiz F; Sullivan P; Oates E; Clayton J; Taylor RL; Davis MR; Beilharz T; Laing NG; Cabrera-Serrano M; Ravenscroft G, 2022, A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism, http://dx.doi.org/10.1101/2022.08.08.22278402
    Conference Abstracts | 2022
    Su Z; Smolnikov A; Khazaal A; Dinger M; Oates E, 2022, 'Comprehensive characterization of early-onset skeletal muscle disease gene exon usage and splicing patterns across different developmental ages', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, CANADA, Halifax, Vol. 32, pp. S47 - S47, presented at 27th International Congress of the World-Muscle-Society (WMS), CANADA, Halifax, 11 October 2022 - 15 October 2022, http://dx.doi.org/10.1016/j.nmd.2022.07.027
    Conference Abstracts | 2020
    Dworschak GC; Punetha J; Kalanithy JC; Mingardo E; Erdem HB; Akdemir ZC; Karaca E; Mitani T; Marafi D; Fatih JM; Jhangiani SN; Hunter JV; Dakal T; Dhabhai B; Dabbagh O; Alsaif HS; Alkuraya FS; Maroofian R; Houlden H; Efthymiou S; Dominik N; Salpietro V; Sultan T; Haider S; Bibi F; Thiele H; Hoefele J; Riedhammer KM; Wagner M; Guella I; Demos M; Keren B; Buratti J; Charles P; Nava C; Valkanas E; Waddell LB; Jones KJ; Oates EC; Cooper ST; MacArthur D; Schnur RE; Hoganson GE; Burton JE; McEntagart M; Pehlivan D; Posey JE; Lupski JR; Reutter H, 2020, 'Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomalies', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, Vol. 28, pp. 130 - 131, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000598482600236&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2020
    Sullivan P; Mayoh C; Wong-Erasmus M; Gayevskiy V; Beecroft S; Pinese M; Oates E; Cowley M, 2020, 'Introme identifies non-canonical splice-altering variants in neuromuscular patients resulting in multiple new genetic diagnoses', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, ELECTR NETWORK, Vol. 30, pp. S144 - S144, presented at 25th International Congress of the World-Muscle-Society (WMS), ELECTR NETWORK, 28 September 2020 - 02 October 2020, http://dx.doi.org/10.1016/j.nmd.2020.08.330
    Conference Papers | 2019
    Donkervoort S; Dowling JJ; Laporte J; MacArthur D; Bönnemann CG; Beggs A; Bonne G; Dubowitz V; Goldberg M; Goldberg M; Herault Y; Karakaya M; Lennox A; Malfatti E; Mathews K; Mora M; Nishino I; Oates E; Rutkowski A; Spring M; Voermans N; Warman J; Willer T; Xiong H; Zaharieva I; Zanoteli E, 2019, '214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015', in Neuromuscular Disorders, pp. 644 - 650, http://dx.doi.org/10.1016/j.nmd.2019.07.002
    Conference Papers | 2019
    Rees M; Fukuzawa A; Nikoopour R; Kho A; Qi J; Fernandez-Garcia M; Wraige E; Cirak S; Pfuhl M; Fluss J; Muntoni F; Sarkozy A; Schroeder R; Voermans N; Wilichowski E; Matthews E; Oates E; Ferreiro A; Jungbluth H; Gautel M, 2019, 'Disruptive recessive TTN missense mutations cause a wide range of clinico-pathological features', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, DENMARK, Copenhagen, pp. S135 - S135, presented at 24th International Annual Congress of the World-Muscle-Society (WMS), DENMARK, Copenhagen, 01 October 2019 - 05 October 2019, http://dx.doi.org/10.1016/j.nmd.2019.06.348
    Conference Papers | 2017
    Oates E; Yau K; Jones K; Smith J; Cummings B; Farrar M; Cooper S; Lek M; Hoffman E; Straub V; Ferreiro A; Udd B; Beggs A; Bonnemann C; North K; MacArthur D; Granzier H; Muntoni F; Davis M; Laing N, 2017, 'Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, FRANCE, Saint Malo, pp. S237 - S238, presented at 22nd International Annual Congress of the World-Muscle-Society (WMS), FRANCE, Saint Malo, 03 October 2017 - 07 October 2017, http://dx.doi.org/10.1016/j.nmd.2017.06.513
    Conference Papers | 2017
    Oates EC; Yau KS; Jones K; Smith JE; Donkervoort S; Swanson L; Charlton A; Brammah S; Peduto AJ; Richard I; Ferreiro A; Man EH; Bushby K; Straub V; Udd B; Lek M; MacArthur DG; Granzier H; Beggs A; Bonnemann CG; North KN; Davis MR; Laing NG, 2017, 'Clinical characterisation of a large international congenital titinopathy cohort', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, pp. S37 - S37, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000558785000110&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2017
    Zaharieva I; Sarkozy A; Manzur A; Munot P; O'Grady G; Rendu J; Amthor H; Servais L; Malfatti E; Dixon J; Poke G; Donkervoort S; Foley AR; Neto OLA; Davis MR; Urtizberea JA; Bastaki L; Romero NB; Oates EC; Holmes C; Williams G; Sframeli M; Yum S; Medne L; Roy SQ; Faure J; Feng L; Morgan JE; Bonnemann CG; Phadke R; Sewry CA; Treves S; Muntoni F, 2017, 'STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, pp. S39 - S39, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000558785000116&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Preprints | 2016
    Cummings BB; Marshall JL; Tukiainen T; Lek M; Donkervoort S; Foley AR; Bolduc V; Waddell L; Sandaradura S; O’Grady G; Estrella E; Reddy HM; Zhao F; Weisburd B; Karczewski KJ; O’Donnell-Luria AH; Birnbaum D; Sarkozy A; Hu Y; Gonorazky H; Claeys K; Joshi H; Bournazos A; Oates EC; Ghaoui R; Davis M; Laing N; Topf A; Kang PB; Beggs AH; North KN; Straub V; Dowling J; Muntoni F; Clarke NF; Cooper ST; Bonnemann CG; MacArthur DG, 2016, Improving genetic diagnosis in Mendelian disease with transcriptome sequencing, http://dx.doi.org/10.1101/074153
    Conference Papers | 2016
    Zaharieva IT; Sarkozy A; Manzur A; O'Grady G; Sharpe J; Dixon J; Poke G; Oates EC; Colombo I; Sframeli M; Feng L; Phadke R; Sewry CA; Duchen M; Morgan JE; Treves S; Muntoni F, 2016, 'STAC3 p.Trp284Ser, a hotspot mutation for congenital myopathy with distinctive dysmorphic features and malignant hyperthermia', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, pp. S39 - S39, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000558787300127&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Theses / Dissertations | 2015
    Oates EC, 2015, Clinical and genetic characterisation of dominant congenital spinal muscular atrophy, University of Sydney
    Conference Papers | 2014
    Oates EC; Yau KS; Charlton A; Brammah S; Farrar MA; Sampaio H; Lamont PL; Mowat D; Fitzsimons RB; Corbett A; Ryan MM; Teoh HL; O'Grady GL; Ghaoui R; Kaur S; Lek M; North KN; MacArthur DG; Davis MR; Laing NG; Clarke NF, 2014, 'Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologies', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, GERMANY, Berlin, pp. 805 - 805, presented at 19th International Congress of the World-Muscle-Society, GERMANY, Berlin, 07 October 2014 - 11 October 2014, http://dx.doi.org/10.1016/j.nmd.2014.06.049
    Conference Papers | 2013
    Oates EC; Rosser AM; Hafezparast M; Lek M; Scoto M; Greensmith L; Auer-Grumbach M; Schule R; Herrmann DN; Clarke NF; MacArthur DG; Zuechner S; Muntoni F; Reilly MM; North KN, 2013, 'Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP)', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, CA, pp. 798 - 798, presented at 18th International Congress of the World-Muscle-Society (WMS), CA, 01 October 2013 - 05 October 2013, http://dx.doi.org/10.1016/j.nmd.2013.06.560
    Conference Papers | 2013
    Rossor AM; Oates EC; Hafezparast M; Cottenie E; Houlden H; Scoto M; Foley R; Clark N; Hermann DN; Grumbach AM; Zuchner S; Muntoni F; North K; Reilly MM, 2013, 'A WINDOW INTO MOTOR NEURON DEVELOPMENT: WHOLE EXOME SEQUENCING OF DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY (DCSMA)', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY-BLACKWELL, FRANCE, Saint Malo, pp. 96 - 97, presented at Meeting of the Peripheral-Nerve-Society, FRANCE, Saint Malo, 29 June 2013 - 03 July 2013, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000320620200247&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2011
    Oates EC; Ilkovski B; North KN; Clarke NF, 2011, 'New histopathlogical features in Centronuclear Myopathy caused by DNM2 mutations - clues to disease pathogenesis', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, PORTUGAL, Algarve, pp. 693 - 693, presented at 16th International Congress of the World-Muscle-Society, PORTUGAL, Algarve, 18 October 2011 - 22 October 2011, http://dx.doi.org/10.1016/j.nmd.2011.06.931
    Conference Papers | 2009
    Oates EC; Clarke NF; Reddel SW; North KN, 2009, 'Insights into the pathological basis of autosomal dominant distal spinal muscular atrophy from a large Australian family', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, SWITZERLAND, Geneva, pp. 596 - 597, presented at 14th International Congress of the World-Muscle-Society, SWITZERLAND, Geneva, 09 September 2009 - 12 September 2009, http://dx.doi.org/10.1016/j.nmd.2009.06.169