Now showing items 1-2 of 2

    • Targeted 'Next-Generation' Sequencing in Anophthalmia and Microphthalmia Patients Confirms SOX2, OTX2 and FOXE3 Mutations 

      Lopez Jimenez, Nelson; Flannick, Jason A.; Yahyavi, Mani; Li, Jiang; Bardakjian, Tanya; Tonkin, Leath; Schneider, Adele; Sherr, Elliott H; Slavotinek, Anne M (BioMed Central, 2011)
      Background: Anophthalmia/microphthalmia (A/M) is caused by mutations in several different transcription factors, but mutations in each causative gene are relatively rare, emphasizing the need for a testing approach that ...
    • Transferability and Fine Mapping of Type 2 Diabetes Loci in African Americans: The Candidate Gene Association Resource Plus Study 

      Ng, Maggie C.Y.; Saxena, Richa; Li, Jiang; Palmer, Nicholette D.; Dimitrov, Latchezar; Xu, Jianzhao; Rasmussen-Torvik, Laura J.; Zmuda, Joseph M.; Siscovick, David S.; Patel, Sanjay R.; Crook, Errol D.; Sims, Mario; Chen, Yii-Der I.; Bertoni, Alain G.; Li, Mingyao; Grant, Struan F.A.; Dupuis, Josée; Meigs, James B.; Psaty, Bruce M.; Pankow, James S.; Langefeld, Carl D.; Freedman, Barry I.; Rotter, Jerome I.; Wilson, James G.; Bowden, Donald W. (American Diabetes Association, 2013)
      Type 2 diabetes (T2D) disproportionally affects African Americans (AfA) but, to date, genetic variants identified from genome-wide association studies (GWAS) are primarily from European and Asian populations. We examined ...