Publications:

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Frontiers In Pediatrics

Valencia, C Alexander CA; Husami, Ammar A; Holle, Jennifer J; Johnson, Judith A JA; Qian, Yaping Y; Mathur, Abhinav A; Wei, Chao C; Indugula, Subba Rao SR; Zou, Fanggeng F; Meng, Haiying H; Wang, Lijun L; Li, Xia X; Fisher, Rachel R; Tan, Tony T; Hogart Begtrup, Amber A; Collins, Kathleen K; Wusik, Katie A KA; Neilson, Derek D; Burrow, Thomas T; Schorry, Elizabeth E; Hopkin, Robert R; Keddache, Mehdi M; Harley, John Barker JB; Kaufman, Kenneth M KM; Zhang, Kejian K

Publication Date: 2015

Variant appearance in text: NPC1: 691G>T

PubMed Link: 26284228

Variant Present in the following documents:

• Main text
• fped-03-00067.pdf

View BVdb publication page