Research: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 Martel,
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,
and Christopher A. Walsh
Genome Res. August 2017 27: 1323-1335; Published in Advance June 19, 2017, doi:10.1101/gr.219899.116
