Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

著者: Lisa Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P. Kirk, Alison Colley, Carolyn Ellaway, Anne Turner, David Mowat, Lisa Worgan, Mary‐Louise Freckmann, Michelle Lipke, Rani Sachdev, David T. Miller, Michael Field, Marcel E. Dinger, Michael F. Buckley, Mark J. Cowley, Tony Roscioli - Genetics in Medicine 2018 被引用: 196