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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. Among authors: rosch r. Clin Genet. 2021 Oct;100(4):412-429. doi: 10.1111/cge.14023. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34216016 Free article.
Analysis of rare copy number variation in absence epilepsies.
Addis L, Rosch RE, Valentin A, Makoff A, Robinson R, Everett KV, Nashef L, Pal DK. Addis L, et al. Among authors: rosch re. Neurol Genet. 2016 Mar 22;2(2):e56. doi: 10.1212/NXG.0000000000000056. eCollection 2016 Apr. Neurol Genet. 2016. PMID: 27123475 Free PMC article.
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Oates S, Tang S, Rosch R, Lear R, Hughes EF, Williams RE, Larsen LHG, Hao Q, Dahl HA, Møller RS, Pal DK. Oates S, et al. Among authors: rosch r. NPJ Genom Med. 2018 May 10;3:13. doi: 10.1038/s41525-018-0052-9. eCollection 2018. NPJ Genom Med. 2018. PMID: 29760947 Free PMC article.
NMDA-receptor antibodies alter cortical microcircuit dynamics.
Rosch RE, Wright S, Cooray G, Papadopoulou M, Goyal S, Lim M, Vincent A, Upton AL, Baldeweg T, Friston KJ. Rosch RE, et al. Proc Natl Acad Sci U S A. 2018 Oct 16;115(42):E9916-E9925. doi: 10.1073/pnas.1804846115. Epub 2018 Sep 27. Proc Natl Acad Sci U S A. 2018. PMID: 30262654 Free PMC article.
149 results