2017•CellOpen access

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Pengfei Liu, Bo Yuan, Claudia M.B. Carvalho, Arthur Wüster, Klaudia Walter, Ling Zhang, Tomasz Gambin, Zechen Chong, Ian M. Campbell, Zeynep Coban‐Akdemir, Violet Gelowani, Karin Writzl, Carlos A. Bacino, Sarah Lindsay, Marjorie Withers, Claudia Gonzaga‐Jauregui, Joanna Wiszniewska, Jennifer Scull, Paweł Stankiewicz, Shalini N. Jhangiani, Donna M. Muzny, Feng Zhang, Ken Chen, Richard A. Gibbs, Bernd Rautenstrauß, Sau Wai Cheung, Janice Smith, Amy M. Breman, Chad A. Shaw, Ankita Patel, Matthew E. Hurles, James R. Lupski

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Key concepts: Biology, Genome instability, Genetics, Breakpoint, Phenotype, Point mutation, Mutagenesis, Chromothripsis