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Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.
Leu C, Balestrini S, Maher B, Hernández-Hernández L, Gormley P, Hämäläinen E, Heggeli K, Schoeler N, Novy J, Willis J, Plagnol V, Ellis R, Reavey E, O'Regan M, Pickrell WO, Thomas RH, Chung SK, Delanty N, McMahon JM, Malone S, Sadleir LG, Berkovic SF, Nashef L, Zuberi SM, Rees MI, Cavalleri GL, Sander JW, Hughes E, Helen Cross J, Scheffer IE, Palotie A, Sisodiya SM. Leu C, et al. Among authors: pickrell wo. EBioMedicine. 2015 Jul 10;2(9):1063-70. doi: 10.1016/j.ebiom.2015.07.005. eCollection 2015 Sep. EBioMedicine. 2015. PMID: 26501104 Free PMC article.
Next generation sequencing methodologies--an overview.
Pickrell WO, Rees MI, Chung SK. Pickrell WO, et al. Adv Protein Chem Struct Biol. 2012;89:1-26. doi: 10.1016/B978-0-12-394287-6.00001-X. Adv Protein Chem Struct Biol. 2012. PMID: 23046880 Review.
GLRB is the third major gene of effect in hyperekplexia.
Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI. Chung SK, et al. Among authors: pickrell wo. Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Epub 2012 Nov 25. Hum Mol Genet. 2013. PMID: 23184146
Weight change associated with antiepileptic drugs.
Pickrell WO, Lacey AS, Thomas RH, Smith PE, Rees MI. Pickrell WO, et al. 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
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
Bode A, Wood SE, Mullins JGL, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJG, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G, Bartsch M, Kara B, Krause A, Karam EG, Matta S, Jain V, Mandel H, Freilinger M, Graham GE, Hobson E, Chatfield S, Vincent-Delorme C, Rahme JE, Afawi Z, Berkovic SF, Howell OW, Vanbellinghen JF, Rees MI, Chung SK, Lynch JW. Bode A, et al. Among authors: pickrell wo. J Biol Chem. 2013 Nov 22;288(47):33745-33759. doi: 10.1074/jbc.M113.509240. Epub 2013 Oct 9. J Biol Chem. 2013. PMID: 24108130 Free PMC article. Clinical Trial.
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: pickrell wo. 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.
Epilepsy and deprivation, a data linkage study.
Pickrell WO, Lacey AS, Bodger OG, Demmler JC, Thomas RH, Lyons RA, Smith PE, Rees MI, Kerr MP. Pickrell WO, et al. Epilepsia. 2015 Apr;56(4):585-91. doi: 10.1111/epi.12942. Epub 2015 Mar 2. Epilepsia. 2015. PMID: 25873180 Free article.
61 results