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Page 1
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Fry AE, Rees E, Thompson R, Mantripragada K, Blake P, Jones G, Morgan S, Jose S, Mugalaasi H, Archer H, McCann E, Clarke A, Taylor C, Davies S, Gibbon F, Te Water Naude J, Hartley L, Thomas G, White C, Natarajan J, Thomas RH, Drew C, Chung SK, Rees MI, Holmans P, Owen MJ, Kirov G, Pilz DT, Kerr MP. Fry AE, et al. Among authors: thomas g, thomas rh. BMC Med Genet. 2016 Apr 26;17(1):34. doi: 10.1186/s12881-016-0294-2. BMC Med Genet. 2016. PMID: 27113213 Free PMC article.
Identifying and prioritising epilepsy treatment uncertainties.
Thomas RH, Hammond CL, Bodger OG, Rees MI, Smith PE; members of WERN & James Lind Alliance. Thomas RH, et al. J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):918-21. doi: 10.1136/jnnp.2009.192716. Epub 2010 Jun 18. J Neurol Neurosurg Psychiatry. 2010. PMID: 20562408
Weight change associated with antiepileptic drugs.
Pickrell WO, Lacey AS, Thomas RH, Smith PE, Rees MI. Pickrell WO, et al. Among authors: thomas rh. J Neurol Neurosurg Psychiatry. 2013 Jul;84(7):796-9. doi: 10.1136/jnnp-2012-303688. Epub 2012 Dec 12. J Neurol Neurosurg Psychiatry. 2013. PMID: 23236017
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Johnston AJ, Kang JQ, Shen W, Pickrell WO, Cushion TD, Davies JS, Baer K, Mullins JGL, Hammond CL, Chung SK, Thomas RH, White C, Smith PEM, Macdonald RL, Rees MI. Johnston AJ, et al. Among authors: thomas rh. Neurobiol Dis. 2014 Apr;64:131-141. doi: 10.1016/j.nbd.2013.12.013. Epub 2014 Jan 7. Neurobiol Dis. 2014. PMID: 24407264 Free PMC article.
Ethnicity can predict GLRA1 genotypes in hyperekplexia.
Thomas RH, Drew CJ, Wood SE, Hammond CL, Chung SK, Rees MI. Thomas RH, et al. J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):341-3. doi: 10.1136/jnnp-2014-307903. Epub 2014 Jun 26. J Neurol Neurosurg Psychiatry. 2015. PMID: 24970905
348 results