Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit

作者:Kernohan Kristin D; Hartley Taila; Naumenko Sergey; Armour Christine M; Graham Gail E; Nikkel Sarah M; Lines Matthew; Geraghty Michael T; Richer Julie; Mears Wendy; Boycott Kym M; Dyment David A*
来源:American Journal of Medical Genetics, Part A, 2018, 176(7): 1688-1691.
DOI:10.1002/ajmg.a.38838