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The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T, Poduri A; ClinGen Brain Malformation Variant Curation Expert Panel. Lai A, et al. Genet Med. 2022 Nov;24(11):2240-2248. doi: 10.1016/j.gim.2022.07.020. Epub 2022 Aug 23. Genet Med. 2022. PMID: 35997716 Free PMC article.
Meningeal gyrations.
Barkovich J, Hevner RF. Barkovich J, et al. Ann Neurol. 2010 Oct;68(4):421-3. doi: 10.1002/ana.22140. Ann Neurol. 2010. PMID: 20865763 No abstract available.
Proceedings of the 13th International Newborn Brain Conference: Neuro-imaging studies.
Abramsky R, Acosta R, Acosta Izquierdo L, Albeshri B, Almouqdad M, Asfour Y, Asfour S, Austin T, Bach A, Barkovich J, Beare R, Ben Fadel N, Berger A, Blanco B, Boomsma M, Bora S, Boswinkel V, Chin T, Collins-Jones L, Cooper R, Dagur G, Davila J, de Vries L, Shesrao L, Dovjak G, Edwards A, El-Dib M, Elshibiny H, Eshel D, Eshel R, Ferriero D, Gano D, Girvan O, Glass H, Goeral K, Golan A, Gurvitz M, Inder T, Jamjoom D, Kadom N, Kasprian G, Khalil T, Klebermass-Schrehof K, Kleinmahon J, Krüse-Ruijter M, Lambing H, Lee S, Leemans A, Leijser L, Lemyre B, Li Y, Maltais-Bilodeau C, Marks K, McCulloch C, Milla S, Miller E, Mishra A, Mitsakakis N, Mohammad K, Tollenaer SM, Munster C, Nijboer J, Nijboer-Oosterveld J, Nijholt I, Novoa R, Ortinau C, Porter E, Prayer D, Reddy D, Redpath S, Rogers E, Schmidbauer V, Scott J, Sewell E, Shany E, Shelef I, Singh E, Slump C, Steele T, Szakmar E, Tax C, Thiim K, Uchitel J, van Osch J, van Wezel-Meijler G, Verschuur A, Wu-Smit MN, Yang E, Zein H. Abramsky R, et al. Among authors: barkovich j. J Neonatal Perinatal Med. 2022;15(2):389-409. doi: 10.3233/NPM-229001. J Neonatal Perinatal Med. 2022. PMID: 35431184 No abstract available.
Prenatal assessment of brain malformations on neuroimaging: an expert panel review.
Pogledic I, Mankad K, Severino M, Lerman-Sagie T, Jakab A, Hadi E, Jansen AC, Bahi-Buisson N, Di Donato N, Oegema R, Mitter C, Capo I, Whitehead MT, Haldipur P, Mancini G, Huisman TAGM, Righini A, Dobyns B, Barkovich JA, Jovanov Milosevic N, Kasprian G, Lequin M. Pogledic I, et al. Among authors: barkovich ja. Brain. 2024 Jul 26:awae253. doi: 10.1093/brain/awae253. Online ahead of print. Brain. 2024. PMID: 39054600
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