Authors: Flanagan, Sarah E. Xie, Weijia Caswell, Richard

Citation: E. Flanagan, Sarah et al., Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation, American journal of human genetics (Online) AJHG , 92(1), 2013, pp. 131-136

Authors: Weedon, Michael N. Hastings, Robert Caswell, Richard Xie, Weijia

Citation: N. Weedon, Michael et al., Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 308-312