By Dr Emily Cathlin Oates

Conference Abstracts

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, Vol. 32, pp. S47 - S47, http://dx.doi.org/10.1016/j.nmd.2022.07.027

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

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