Emily Oates

Senior Lecturer (Medical Genomics) | Paediatrician and Clinical Geneticist (subspeciality: Neurogenetics) | Group Leader: Medical Genomics Research Group
Senior Lecturer

Dr Emily Oates is a Senior Lecturer in Medical Genomics, head of the UNSW Medical Genomics Group, an NHMRC Neil Hamilton Fairley Early Career Research Fellow and a neurogenetics consultant for The Sydney Children’s Hospital Network. She has over 10 years of clinical experience in the diagnosis and management of infants and children with 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.

She currently holds an NHMRC Neil Hamilton Fairley Early Career Fellowship. This fellowship is focused on harnessing state-of-the-art massively parallel DNA and RNA sequencing technologies to improve genetic diagnosis rates for patients with neuromuscular disorders and to identify new disease-causing genes. During her time as ECR Fellow, Dr Oates contributed to the discovery and characterisation of several new neuromuscular disease genes and genetic disorders including BICD2-spinal muscular atrophy and SCN4A-congenital myopathy. In 2018 she led an 84-member-strong collaboration aimed at providing the first definitive description of a new muscle disease, congenital titinopathy.

Research activities

Currently, Dr Oates is involved in several subsequent projects further characterising the clinical, genetic, and molecular features of titinopathies. Her research involves utilising whole exome and whole genome massively parallel sequencing trio analysis for pathogenic gene discovery and characterisation of titin mutations. In addition, Dr Oates and her Medical Genomics Group use human RNA sequencing data as a diagnostic tool to confirm the impacts of cryptic splice mutations and to determine the exons and isoforms which are critical to striated muscle development and pathology.

Dna man

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)
  • NHMRC Neil Hamilton Fairley Research Fellow
  • Honorary Staff Specialist (Sydney Children’s Hospital)
  • Honorary Fellow (Great Ormond Street Hospital, London)
  • Honorary Staff Specialist (Children’s Hospital at Westmead, Sydney)

Professional experience

Year Position Institution
2016-2017 NHMRC ECR clinical research fellow University College London & Great Ormond Street Hospital, London
2015-2016 Staff Specialist & NHMRC ECR clinical research fellow The Children’s Hospital at Westmead (CHW) &
Institute for Neuroscience and Muscle Research (INMR)
2014 May-Jul Staff Specialist (locum) Genetics of Learning Disability (GOLD) team: 
Royal North Shore Hospital (Sydney)
2010-2014 Neurogenetics fellow & PhD candidate The Children’s Hospital at Westmead & Institute for Neuroscience and Muscle Research
2007-2009 Advanced trainee: Clinical Genetics Sydney Children’s Hospital (2007) & The Children’s Hospital at Westmead (2008, 2009)
2004-2006 Paediatric Registrar Sydney Children’s Hospital
2003 Paediatric Resident Sydney Children’s Hospital
2001-2002 Intern and Medical Resident (RMO1) Prince of Wales Hospital & Sydney Children’s Hospital
1995-1996 Research assistant The Heart Research Institute

Areas of expertise

  • Genetics
  • Genomics
  • Transcriptomics
  • Neuromuscular disorders
  • Rare diseases
  • RNA sequencing
  • Whole genome sequencing
  • Diagnostics and disease characterisation
  • Striated muscle biology
  • Titin and titinopathies
Journal articles
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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, vol. 22, pp. 2029 - 2040, http://dx.doi.org/10.1038/s41436-020-0914-2
2020
Bryen SJ; Oates EC; Evesson FJ; Lu JK; Waddell LB; Joshi H; Ryan MM; Cummings BB; McLean CA; MacArthur DG; Kornberg AJ; Cooper ST, 2020, '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, http://dx.doi.org/10.1038/s41431-020-00715-7
2020
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, vol. 29, pp. 456 - 467, http://dx.doi.org/10.1016/j.nmd.2019.04.002
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, vol. 56, pp. 617 - 621, http://dx.doi.org/10.1136/jmedgenet-2018-105390
2019
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, vol. 83, pp. 1105 - 1124, http://dx.doi.org/10.1002/ana.25241
2018
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, vol. 9, http://dx.doi.org/10.1126/scitranslmed.aal5209
2017
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, vol. 139, pp. 674 - 691, http://dx.doi.org/10.1093/brain/awv352
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, vol. 80, pp. 101 - 111, http://dx.doi.org/10.1002/ana.24687
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, vol. 3, pp. 209 - 225, http://dx.doi.org/10.3233/JND-160151
2016
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, vol. 138, pp. e392, http://dx.doi.org/10.1093/brain/awv160
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, vol. 138, pp. 293 - 310, http://dx.doi.org/10.1093/brain/awu356
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, vol. 23, pp. 883 - 886, http://dx.doi.org/10.1038/ejhg.2014.169
2015
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, vol. 164, pp. 661 - 665, http://dx.doi.org/10.1002/ajmg.a.36338
2014
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, vol. 92, pp. 965 - 973, http://dx.doi.org/10.1016/j.ajhg.2013.04.018
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, vol. 161, pp. 659 - 666, http://dx.doi.org/10.1002/ajmg.a.35840
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, vol. 91, pp. 727 - 737, http://dx.doi.org/10.1007/s00109-013-0994-4
2013
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, vol. 135, pp. 1714 - 1723, http://dx.doi.org/10.1093/brain/aws108
2012
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, vol. 6, http://dx.doi.org/10.1371/journal.pgen.1001065
2010
Conference Papers
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Donkervoort S; Dowling JJ; Laporte J; MacArthur D; Bönnemann CG; Beggs A; Bonne G; Bönnemann C; Dowling J; 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
2019
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, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000558785000116&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
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, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000558785000110&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
2017
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, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000558787300127&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
2016
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, Berlin, GERMANY, pp. 805 - 805, presented at 19th International Congress of the World-Muscle-Society, Berlin, GERMANY, 07 October 2014 - 11 October 2014, http://dx.doi.org/10.1016/j.nmd.2014.06.049
2014
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, Saint Malo, FRANCE, pp. 96 - 97, presented at Meeting of the Peripheral-Nerve-Society, Saint Malo, FRANCE, 29 June 2013 - 03 July 2013, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000320620200247&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
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
2013
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, Algarve, PORTUGAL, pp. 693 - 693, presented at 16th International Congress of the World-Muscle-Society, Algarve, PORTUGAL, 18 October 2011 - 22 October 2011, http://dx.doi.org/10.1016/j.nmd.2011.06.931
2011
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, Geneva, SWITZERLAND, pp. 596 - 597, presented at 14th International Congress of the World-Muscle-Society, Geneva, SWITZERLAND, 09 September 2009 - 12 September 2009, http://dx.doi.org/10.1016/j.nmd.2009.06.169
2009
Theses / Dissertations
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Oates EC, 2015, Clinical and genetic characterisation of dominant congenital spinal muscular atrophy, University of Sydney
2015
2016
European Neuromuscular Centre (ENMC) Young Scientist Fellowship
  World Muscle Society (WMS) Congress Fellowship Prize (Granada)
2014 NHMRC Neil Hamilton Fairley (Early Career Research) Fellowship
  WMS Congress Fellowship Prize and Elsevier Prize (Berlin)
2013 University of Sydney Medal: Best overall presentation: ASMR NSW Meeting
  Winston Churchill Memorial Trust Travelling Fellowship
  Best oral presentation award: World Muscle Society Congress (California)
  Dean's Prize for Best Sydney Medical School research student publication
  Oral presentation prize: USyd Postgraduate Student Conference (Sydney)
2012 Oral presentation prize: USyd Postgraduate Student Conference (Sydney)
  Student poster prize: GAGE muscle conference (Canberra)
2011 First prize: student oral presentation: HGSA conference (Gold Coast)
  WMS Fellowship Prize (Portugal)
2010                   NHMRC medical/dental postgraduate (PhD) scholarship                         
2009 Lea Rose Prize: Presenter of the most important contribution in SMA research
  World Muscle Fellowship Prize (Geneva)