Stephanie Oates 女士
概述
Stephanie has 17 years’ experience in cardiac genetics, in Oxford and London, as well as Auckland, New Zealand. She is currently the principal genetic counsellor for the paediatric cardiology department at Great Ormond Street.
Stephanie has a wide range of experience in the clinical setting, research, teaching, adults and paediatrics as well as charity work. Her main focus is Cardiomyopathies and Arrhythmias and promoting the unique contributions genetic counsellors can make in improving patient care, both pre and post genetic testing.
Stephanie is the current Genetic Counsellor representative for the Association of Inherited Cardiac Conditions and is a member of the North London Operational Development Network (PPI lead).
相关资质
Genetic Counselling - specialist in Inherited Cardiac Conditions
Clinical Genetics; medical ethics; genetic counselling; cardiac genetics; inherited cardiac conditions
AHCS Registered Genetic Counsellor since 2020 - Registration No: 28625
FHGSA - Original certification under the Human Genetics Society of Australasia
MsC in Genetic Counselling (Cardiff University), graduated 2008
LLB in Law (Leicester University), graduated 2002
Membership: Association of Inherited Cardiac Conditions member; Academy Of Healthcare Sciences registration
Primarily inherited cardiac conditions; improving patient care and patient autonomy
新闻和论文发表
Tollit J, Oates S, Odori A et al (2024) Caring for children and young people with inherited cardiac conditions: the evolving role of specialist nurses. Nursing Children and Young People. doi: 10.7748/ncyp.2024.e1532
Boleti OD, Roussos S, Norrish G, Field E, Oates S, Tollit J, Nepali G, Bhole V, Uzun O, Daubeney PEF, Stuart GA, Fernandes P, McLeod K, Ilina M, Liaqath MNA, Bharucha T, Delle Donne G, Brown E, Linter K, Khodaghalian B, Jones C, Searle J, Mathur S, Boyd N, Reindhardt Z, Duignan S, Prendiville T, Adwani S, Zenker M, Wolf CM, Kaski JP. Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of events. Int J Cardiol. 2023 Dec 15;393:131405. doi: 10.1016/j.ijcard.2023.131405. Epub 2023 Sep 28.PMID: 37777071
Schröter J, Popp B, Brennenstuhl H, Döring JH, Donze SH, Bijlsma EK, van Haeringen A, Huhle D, Jestaedt L, Merkenschlager A, Arelin M, Gräfe D, Neuser S, Oates S, Pal DK, Parker MJ, Lemke JR, Hoffmann GF, Kölker S, Harting I, Syrbe S. Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early onset epilepsies. Eur J Hum Genet. 2022 Mar;30(3):298-306. doi: 10.1038/s41431-021-01027-0. Epub 2022 Jan 11. PMID: 35017693
Hughes E, Oates S, Pal DK. Intolerance to quinidine in a n-of-1 trial for KCNT1 associated epilepsy of infancy with migrating focal seizures. Seizure. 2022 Dec;103:46-50. doi: 10.1016/j.seizure.2022.10.017. Epub 2022 Oct 19.PMID: 36279596
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopment disorder. Clin Genet. 2021 Oct;100(4):412-429. doi: 10.1111/cge.14023. Epub 2021 Jul 16. PMID: 34216016
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J. Clinical Spectrum of STX1B- related epileptic disorders. Neurology. 2019 Mar 12;92(11):e1238-e1249. Epub 2019 Feb 8.
Oates S, Tang SS, Rosch R, Lear R, Hughes EF, Williams RE, Larsen LHG, Hao Q, Dahl HA, Moller R, Pal DK. Incorporating epilepsy genetics into clinical practice: a 360o evaluation. Nature Reviews Genomic Medicine, 2018 in press.
Waddell-Smith KE, Donoghue T, Oates S, Graham A, Crawford J, Stiles MK, Aitken A, Skinner JR. Inpatient detection of cardiac-inherited disease: the impact of improving family history taking. Open Heart. 2016 Feb 16;3(1):e000329. eCollection 2016.
Ormondroyd E, Oates S, Parker M, Blair E, Watkins H. Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications. Eur J Hum Genet. 2014 Jan;22(1):88-93. Epub 2013 May 1
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