De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP.Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF.Am J Hum Genet. 2012 Mar 9;90(3):502-510.
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Replication stress and mechanisms of CNV formation..Arlt MF, Wilson TE, Glover TWCurr Opin Genet Dev. 2012 Feb 23. [Epub ahead of print]
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Quality of Life and Autonomy in Emerging Adults with Early-Onset Neuromuscular Disorders.
Huismann DJ, Sheldon JP, Yashar BM, Amburgey K, Dowling JJ, Petty EM.J Genet Couns. 2012 Feb 25. [Epub ahead of print].
Inhibitor of streptokinase gene expression improves survival after group A streptococcus infection in mice.
Sun H, Xu Y, Sitkiewicz I, Ma Y, Wang X, Yestrepsky BD, Huang Y, Lapadatescu MC, Larsen MJ, Larsen SD, Musser JM, Ginsburg D.Proc Natl Acad Sci U S A. 2012 Feb 28;109(9):3469-3474.
Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2-q34.3.
Xu W, Ahmad A, Dagenais S, Iyer RK, Innis JW.Am J Med Genet A. 2012 Mar;158A(3):635-40.
