By Dr Emily Cathlin Oates

Conference Abstracts

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

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

Theses / Dissertations

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

Preprints

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

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

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

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

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