Article
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
PloS one - 1 Jan 2014
Brett Maggie, McPherson John, Zang Zhi Jiang, Lai Angeline, Tan Ee-Shien, Ng Ivy, Ong Lai-Choo, Cham Breana, Tan Patrick, Rozen Steve, Tan Ene-Choo
Abstract excerpt
Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for...
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