All Stories

  1. Mutations in the mitochondrial cysteinyl-tRNA synthase gene,CARS2,lead to a severe epileptic encephalopathy and complex movement disorder

    Article • Journal of Medical Genetics, March 2015, BMJ

    Dr Hung-Chun Yu

  2. Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis geneWDPCPin a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas

    Article • American Journal of Medical Genetics Part A, November 2014, Wiley

    Dr Hung-Chun Yu

  3. An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations inKAT6B

    Article • American Journal of Medical Genetics Part A, January 2014, Wiley

    Dr Hung-Chun Yu

  4. An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

    Article • The American Journal of Human Genetics, September 2013, Elsevier

    Dr Hung-Chun Yu

  5. Targeted discovery of novel human exons by comparative genomics

    Article • Genome Research, December 2007, Cold Spring Harbor Laboratory Press

    Dr Hung-Chun Yu