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Clinical spectrum of STX1B-related epileptic disorders.
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. Wolking S, et al. Among authors: oates s. Neurology. 2019 Mar 12;92(11):e1238-e1249. doi: 10.1212/WNL.0000000000007089. Epub 2019 Feb 8. Neurology. 2019. PMID: 30737342 Free PMC article.
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
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. Oates S, et al. Clin Genet. 2021 Oct;100(4):412-429. doi: 10.1111/cge.14023. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34216016 Free article.
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
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. Schröter J, et al. Among authors: oates s. Eur J Hum Genet. 2022 Mar;30(3):298-306. doi: 10.1038/s41431-021-01027-0. Epub 2022 Jan 11. Eur J Hum Genet. 2022. PMID: 35017693 Free PMC article.
Heavy-element production in a compact object merger observed by JWST.
Levan AJ, Gompertz BP, Salafia OS, Bulla M, Burns E, Hotokezaka K, Izzo L, Lamb GP, Malesani DB, Oates SR, Ravasio ME, Rouco Escorial A, Schneider B, Sarin N, Schulze S, Tanvir NR, Ackley K, Anderson G, Brammer GB, Christensen L, Dhillon VS, Evans PA, Fausnaugh M, Fong WF, Fruchter AS, Fryer C, Fynbo JPU, Gaspari N, Heintz KE, Hjorth J, Kennea JA, Kennedy MR, Laskar T, Leloudas G, Mandel I, Martin-Carrillo A, Metzger BD, Nicholl M, Nugent A, Palmerio JT, Pugliese G, Rastinejad J, Rhodes L, Rossi A, Saccardi A, Smartt SJ, Stevance HF, Tohuvavohu A, van der Horst A, Vergani SD, Watson D, Barclay T, Bhirombhakdi K, Breedt E, Breeveld AA, Brown AJ, Campana S, Chrimes AA, D'Avanzo P, D'Elia V, De Pasquale M, Dyer MJ, Galloway DK, Garbutt JA, Green MJ, Hartmann DH, Jakobsson P, Kerry P, Kouveliotou C, Langeroodi D, Le Floc'h E, Leung JK, Littlefair SP, Munday J, O'Brien P, Parsons SG, Pelisoli I, Sahman DI, Salvaterra R, Sbarufatti B, Steeghs D, Tagliaferri G, Thöne CC, de Ugarte Postigo A, Kann DA. Levan AJ, et al. Among authors: oates sr. Nature. 2024 Feb;626(8000):737-741. doi: 10.1038/s41586-023-06759-1. Epub 2023 Oct 25. Nature. 2024. PMID: 37879361 Free PMC article.
Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of events.
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. Boleti OD, et al. Among authors: oates s. Int J Cardiol. 2023 Dec 15;393:131405. doi: 10.1016/j.ijcard.2023.131405. Epub 2023 Sep 28. Int J Cardiol. 2023. PMID: 37777071 Free article.
78 results