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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. Among authors: poduri a. 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.
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS. Poduri A, et al. Brain Dev. 2010 Aug;32(7):550-5. doi: 10.1016/j.braindev.2009.08.005. Epub 2009 Sep 13. Brain Dev. 2010. PMID: 19751967 Free PMC article.
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL; Children's Hospital Boston Genotype Phenotype Study Group. Ching MS, et al. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):937-47. doi: 10.1002/ajmg.b.31063. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20468056 Free PMC article.
Somatic activation of AKT3 causes hemispheric developmental brain malformations.
Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA. Poduri A, et al. Neuron. 2012 Apr 12;74(1):41-8. doi: 10.1016/j.neuron.2012.03.010. Neuron. 2012. PMID: 22500628 Free PMC article.
Focal cortical dysplasia is more common in boys than in girls.
Ortiz-González XR, Poduri A, Roberts CM, Sullivan JE, Marsh ED, Porter BE. Ortiz-González XR, et al. Among authors: poduri a. Epilepsy Behav. 2013 Apr;27(1):121-3. doi: 10.1016/j.yebeh.2012.12.035. Epub 2013 Feb 13. Epilepsy Behav. 2013. PMID: 23416281 Free PMC article.
289 results