Integrated Genome and Transcriptome Sequencing Identifies A Noncoding Mutation in the Genome Replication Factor Donson As the Cause of Microcephaly-Micromelia Syndrome Gilad D. Evrony , Dwight R. Cordero , Jun Shen , Jennifer N. Partlow , Timothy W. Yu , Rachel E. Rodin , R. Sean Hill , Michael E. Coulter , Anh-Thu N. Lam , Divya Jayaraman , Dianne Gerrelli , Diana G. Diaz , Chloe Santos , Victoria Morrison , Antonella Galli , Ulrich Tschulena , Stefan Wiemann , M. Jocelyne Marte , Betty Spooner , Steven C. Ryu , Princess C. Elhosary , Jillian M. Richardson , Danielle Tierney , Christopher A. Robinson , Rajni Chibbar , Dana Diudea , Rebecca Folkerth , Sheldon Wiebe , A. James Barkovich , Ganeshwaran H. Mochida , James Irvine , Edmond G. Lemire , Patricia Blakley , Christopher A. Walsh GENOME RESEARCH（2017）
关键词
integrated genome, noncoding mutation, microcephaly-micromelia
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