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Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Lee WS, Stephenson SEM, Howell KB, Pope K, Gillies G, Wray A, Maixner W, Mandelstam SA, Berkovic SF, Scheffer IE, MacGregor D, Harvey AS, Lockhart PJ, Leventer RJ. Lee WS, et al. Ann Clin Transl Neurol. 2019 Jul;6(7):1338-1344. doi: 10.1002/acn3.50815. Epub 2019 Jun 17. Ann Clin Transl Neurol. 2019. PMID: 31353856 Free PMC article.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Amor DJ, et al. Among authors: lee ws. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982611 Free PMC article.
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.
Lee WS, Stephenson SEM, Pope K, Gillies G, Maixner W, Macdonald-Laurs E, MacGregor D, D'Arcy C, Jackson G, Harvey AS, Leventer RJ, Lockhart PJ. Lee WS, et al. Neurology. 2020 Nov 3;95(18):e2542-e2551. doi: 10.1212/WNL.0000000000010670. Epub 2020 Aug 26. Neurology. 2020. PMID: 32847954
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.
Lee WS, Baldassari S, Chipaux M, Adle-Biassette H, Stephenson SEM, Maixner W, Harvey AS, Lockhart PJ, Baulac S, Leventer RJ. Lee WS, et al. Ann Clin Transl Neurol. 2021 Feb;8(2):485-490. doi: 10.1002/acn3.51286. Epub 2021 Jan 12. Ann Clin Transl Neurol. 2021. PMID: 33434304 Free PMC article.
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.
Ye Z, Chatterton Z, Pflueger J, Damiano JA, McQuillan L, Harvey AS, Malone S, Do H, Maixner W, Schneider A, Nolan B, Wood M, Lee WS, Gillies G, Pope K, Wilson M, Lockhart PJ, Dobrovic A, Scheffer IE, Bahlo M, Leventer RJ, Lister R, Berkovic SF, Hildebrand MS. Ye Z, et al. Among authors: lee ws. Brain Commun. 2021 Jan 21;3(1):fcaa235. doi: 10.1093/braincomms/fcaa235. eCollection 2021. Brain Commun. 2021. PMID: 33738444 Free PMC article.
Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II.
Macdonald-Laurs E, Warren AEL, Lee WS, Yang JY, MacGregor D, Lockhart PJ, Leventer RJ, Neal A, Harvey AS. Macdonald-Laurs E, et al. Among authors: lee ws. Epilepsia. 2023 Feb;64(2):348-363. doi: 10.1111/epi.17495. Epub 2022 Dec 27. Epilepsia. 2023. PMID: 36527426 Free PMC article.
2,725 results