Accuracy of CNV Detection from GWAS Data

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Zhang D, Qian Y, Akula N, Alliey-Rodriguez N, Tang J; Bipolar Genome Study, Gershon ES, Liu C. Accuracy of CNV Detection from GWAS Data PLoS One. 2011 Jan 13;6(1):e14511

Spontaneous abrogation of the G 2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia...

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Ceccaldi R, Briot D, Larghero J, Vasquez N, Dubois d'Enghien C, Chamousset D, Noguera ME, Waisfisz Q, Hermine O, Pondarre C, Leblanc T, Gluckman E, Joenje H, Stoppa-Lyonnet D, Socié G, Soulier J. Spontaneous abrogation of the G 2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients. J Clin Invest. 2011 Jan 4;121(1):184-94. doi: 10.1172/JCI43836.

Isolation and Characterization of a Population of Stem-like Progenitor Cells From an Atypical Meningioma

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Rath P, Miller DC, Litofsky NS, Anthony DC, Feng Q, Franklin C, Pei L, Free A, Liu J, Ren M, Kirk MD, Shi H. Isolation and Characterization of a Population of Stem-like Progenitor Cells From an Atypical Meningioma. Exp Mol Pathol. 2011 Apr;90(2):179-88.

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

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Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet. 2010 Dec 10;87(6):842-7

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency...

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Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K. Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest. 2010 Dec 1;120(12):4220-35. doi: 10.1172/JCI43653