Dr Emily Oates

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Dr Emily Oates is a Senior Lecturer in Medical Genomics, head of the 91ɫ��Ƭ 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

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The 91ɫ��Ƭ 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

91ɫ��Ƭ 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 | 2026

Su Z; Fang M; Smolnikov A; Vafaee F; Dinger ME; Oates EC, 2026, 'Deep learning of 777 K bulk transcriptomes reveals human–mouse gene conservation beyond DNA sequence similarity', Communications Biology, 9,

Journal articles | 2026

Villar-Quiles RN; Hayes LH; Raga S; Bönnemann C; Oates E; Dowling J; Ferreiro A; Agrawal P; Beggs A; Davis M; De Carvalho M; Donkervoort S; Foye S; Goldberg M; Guillet M; Jungbluth H; Lennox A; Malfatti E; Nishino I; Quijano-Roy S; Ravenscroft G; Sarkozy A; Schara U; Straub V; Voermans N; Wilmshurst J, 2026, '277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21–23 June 2024, Hoofddorp, The Netherlands', Neuromuscular Disorders, 60,

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,

Journal articles | 2025

Johnson R; Fletcher RA; Peters S; Ohanian M; Soka M; Smolnikov A; Abihider KE; Ackerman MJ; Ader F; Akhtar MM; Amin AS; Ashley EA; Atherton JJ; Austin R; Baas AF; Bagnall RD; Ross SB; Blouin JL; Brown EE; Bundgaard H; Cannie D; Chmielewski P; Correnti G; Crespo-Leiro MG; Dal Ferro M; Dellefave-Castillo LM; Dominguez F; Dooijes D; Dybro AM; Ed Demri Y; El Hachmi M; Escobar-Lopez L; Foye SJ; Franaszczyk M; Gigli M; Lopez EG; Goudal A; Graw S; Guipponi M; Haan E; Haas J; Hammersley DJ; Hansen FG; Hayward CS; Hey TM; Heymans S; Ho CY; Houweling AC; Ingles J; Ingrey A; Jabbour A; James PA; Jansweijer JA; Jongbloed JDH; Keogh AM; Larrañaga-Moreira JM; Lekanne Deprez RH; Macciocca I; Macdonald PS; Mansencal N; Mansour J; Martinez-Veira C; Mcdonough B; Mcgaughran J; Medo K; Merlo M; Michalak E; Monserrat L; Mountain H; Muller SA; Murphy AM; Murray B; Oates EC; Ormondroyd E; Pachter N; Paldino A; Palmyre A; Pereira NL; Picard KC; Poplawski N; Prasad S; Proukhnitzky J; Pruny JF; Reant P; Richard P; Ronan A; Sedaghat-Hamedani F; Semsarian C; Storm G; Stroeks S; Syrris P; Taylor MRG; Thomson K; Thompson T; Van Tintelen JP; Vissing CR; Waddell-Smith KE; Wallis M; Zentner D; Arnott C, 2025, 'Titin-related familial dilated cardiomyopathy: factors associated with disease onset', European Heart Journal, 46, pp. 5240 - 5257,

Journal articles | 2025

Lee A; Yuen M; Oates E; Quinlan K, 2025, '81PHarnessing CRISPR activation to upregulate TTN as a potential treatment for titinopathies', Neuromuscular Disorders, 53, pp. 105862 - 105862,

Journal articles | 2025

Su Z; Fang M; Smolnikov A; Dinger ME; Oates EC; Vafaee F, 2025, 'GeneRAIN: multifaceted representation of genes via deep learning of gene expression networks', Genome Biology, 26,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

Journal articles | 2022

Oates E, 2022, 'I.02 Titin – The newly-emerged "titan" of the cardiac and skeletal muscle disease world', Neuromuscular Disorders, 32, pp. s42,

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,

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 EP.34 3′UTR variant in KLHL40 causes nemaline myopathy', Neuromuscular Disorders, 31, pp. s60,

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,

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,

Journal articles | 2021

Smolnikov A; Oates E; Wilkins M, 2021, 'APPLICATION OF NEXT GENERATION TECHNOLOGIES EP.313 The utility of RNA-sequencing in the study of muscle biology and neuromuscular disease', Neuromuscular Disorders, 31, pp. s145,

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,

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,

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, 'P.108Recessive MYH7-related myopathy in two families', Neuromuscular Disorders, 29, pp. s80,

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,

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,

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, 'P.241Congenital titinopathy as a cause of severe to profound congenital weakness and early death', Neuromuscular Disorders, 29, pp. s137,

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,

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,

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,

Journal articles | 2018

Böhm J; Malfatti E; Oates E; Jones K; Romero N; Laporte J, 2018, 'CONGENITAL MYOPATHIES: GENERAL AND RYR1 P.46Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures', Neuromuscular Disorders, 28, pp. s44 - s45,

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 MYOPATHIES: NEMALINE AND TITINOPATHIES P.239Congenital titinopathy: severe and atypical presentations', Neuromuscular Disorders, 28, pp. s104,

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,

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,

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; Consortium TTCM, 2017, 'OD01 Clinical characterisation of a large international congenital titinopathy cohort', Neuromuscular Disorders, 27, pp. s37,

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,

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, 'S.O.2 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,

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,

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,

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,

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,

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,

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; Group SR, 2015, 'G.P.300 Recessive loss-of-function SCN4A mutations associated with a novel phenotype of congenital myopathy', Neuromuscular Disorders, 25, pp. s275 - s276,

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,

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,

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,

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,

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,

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,
Conference Papers | 2025

Kruijt N; Laforet P; Vissing J; Bhai S; Stemmerik MG; Kleefeld F; Voermans NC; Bhai S; Fatehi F; Gupta VA; Ferreiro A; Liewluck T; Lucia A; McMahon G; Oates E; O'Connor F; Oldfors A; Quinlivan R; Ravenscroft G; Riazi S; Roos A; Roux-Buisson N; Schoser B; Siciliano G, 2025, '276th ENMC workshop: recommendations on optimal diagnostic pathway and management strategy for patients with acute rhabdomyolysis worldwide. 15th-17th March 2024, Hoofddorp, The Netherlands', in Neuromuscular Disorders,

Conference Papers | 2023

Abeygunawardena D; Oates E; Palmer E; Terrill B, 2023, '“I FEEL MUCH MORE CONFIDENT IN APPROACHING GENETICS IN MY WORKPLACE...”: A SHORT COURSE IN PRACTICAL MEDICAL GENOMICS', in INTED proceedings, IATED Academy, pp. 8406 - 8406, presented at INTED2023 Proceedings,

Conference Abstracts | 2022

Su Z; Smolnikov A; Khazaal A; Dinger M; Oates E, 2022, 'VP.02 Comprehensive characterization of early-onset skeletal muscle disease gene exon usage and splicing patterns across different developmental ages', in Neuromuscular Disorders, Elsevier, Vol. 32, pp. s47,

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,

Conference Abstracts | 2020

Sullivan P; Mayoh C; Wong-Erasmus M; Gayevskiy V; Beecroft S; Pinese M; Oates E; Cowley M, 2020, 'NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES P.334 Introme identifies non-canonical splice-altering variants in neuromuscular patients resulting in multiple new genetic diagnoses', in Neuromuscular Disorders, Elsevier, Vol. 30, pp. s144,

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,

Conference Abstracts | 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', in Heart Lung and Circulation, Elsevier, Vol. 28, pp. s140,

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; Schröder R; Voermans N; Wilichowski E; Matthews E; Oates E; Ferreiro A; Jungbluth H; Gautel M, 2019, 'P.234Disruptive recessive TTN missense mutations cause a wide range of clinico-pathological features', in Neuromuscular Disorders, Elsevier, pp. s135,

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; Bönnemann C; North K; MacArthur D; Granzier H; Muntoni F; Davis M; Laing N, 2017, 'P.473 Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?', in Neuromuscular Disorders, Elsevier, pp. s237 - s238,

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,

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,

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,

Theses / Dissertations | 2015

Oates EC, 2015, Clinical and genetic characterisation of dominant congenital spinal muscular atrophy

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, 'G.P.35 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, Elsevier, pp. 805,

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; Züchner S; Muntoni F; Reilly MM; North KN, 2013, 'O.10 Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP)', in Neuromuscular Disorders, Elsevier, pp. 798,

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,

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,

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,

Preprints |

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; Consortium G; Kang PB; Beggs AH; North KN; Straub V; Dowling J; Muntoni F; Clarke NF; Cooper ST; Bonnemann CG; MacArthur DG, Improving genetic diagnosis in Mendelian disease with transcriptome sequencing,

Preprints |

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, A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism,

Preprints |

Su Z; Fang M; Smolnikov A; Dinger ME; Oates EC; Vafaee F, Multifaceted Representation of Genes via Deep Learning of Gene Expression Networks,

Preprints |

Su Z; Fang M; Smolnikov A; Vafaee F; Dinger ME; Oates EC, Genes in Humans and Mice: Insights from Deep learning of 777K Bulk Transcriptomes,

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