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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB. Mirzaa GM, et al. Among authors: jansen la. JAMA Neurol. 2016 Jul 1;73(7):836-845. doi: 10.1001/jamaneurol.2016.0363. JAMA Neurol. 2016. PMID: 27159400 Free PMC article.
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR. Hansen J, et al. Among authors: jansen la. Am J Hum Genet. 2015 Apr 2;96(4):682-90. doi: 10.1016/j.ajhg.2015.02.013. Am J Hum Genet. 2015. PMID: 25839329 Free PMC article.
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC, Chung WH, Almanza Fuerte EP, Mehaffey MG; University of Washington Center for Mendelian Genomics; Ng CC, Chan CK, Lim KS, Leventer RJ, Lockhart PJ, Riney K, Damiano JA, Hildebrand MS, Mirzaa GM, Dobyns WB, Berkovic SF, Scheffer IE, Tsai JW, Mefford HC. Tsai MH, et al. Among authors: jansen la. Neuron. 2020 Apr 22;106(2):237-245.e8. doi: 10.1016/j.neuron.2020.01.027. Epub 2020 Feb 24. Neuron. 2020. PMID: 32097630 Free PMC article.
126 results