Showing 1 - 2 results of 2 for search 'Stephanie A. Felker', query time: 0.01s Refine Results
  1. 1
    Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome

    Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome by Emily R. Gordon, Stephanie A. Felker, Stephanie A. Felker, Tanner F. Coleman, Tanner F. Coleman, Nadiya Sosonkina, Jada Pugh, Jada Pugh, Meagan E. Cochran, Meagan E. Cochran, Anna C. E. Hurst, Sara J. Cooper

    Published 2024-12-01
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  2. 2
    A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

    A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations by Anton Safonov, Tomoki T. Nomakuchi, Elizabeth Chao, Carrie Horton, Jill S. Dolinsky, Amal Yussuf, Marcy Richardson, Virginia Speare, Shuwei Li, Zoe C. Bogus, Maria Bonanni, Anna Raper, Trust Odia, Bradley S. Wubbenhorst, Elsa Faulders, Elisabeth M. Schuth, Kate Loranger, Jingwen Zhang, Carly Bess Scalise, Adam ElNaggar, Youbao Sha, Stephanie A. Felker, Jeffrey Weitzel, Staci Kallish, Marylyn D. Ritchie, Penn Medicine BioBank, Katherine L. Nathanson, Theodore G. Drivas

    Published 2025-04-01
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