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Profile

Yuan Xue

  • Department of Human Genetics
    Adjunct Assistant Professor
  • yuan.xue@emory.edu

Overview

Dr. Xue received her MD in Wuhan, China, and her PhD in Human Nutrition in Molecular Biochemistry through Kansas State University. She completed an ABMG Molecular Genetics Fellowship through the UCLA Intercampus Medical Genetics program.

She is certified by the American Board of Medical Genetics in Clinical Molecular Genetics. Her areas of specialization include molecular genetic diagnostic testing, molecular diagnostic testing for skeletal dysplasias, and the FGFRe signaling pathway.

She is currently a laboratory director with Fulgent Laboratories in Atlanta. Dr. Xue is co-instructor for Current Topics in Clinical Genetic Testing (HGC 755) and Hot Topics in Genomics (HGC 820).

Research

Publications

  • Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
    Circ Cardiovasc Genet Volume: 9 Page(s): 130 - 135
    04/01/2016 Authors: Xue Y; Schoser B; Rao AR; Quadrelli R; Vaglio A; Rupp V; Beichler C; Nelson SF; Schapacher-Tilp G; Windpassinger C
  • FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
    Mol Genet Genomic Med Volume: 2 Page(s): 497 - 503
    11/01/2014 Authors: Xue Y; Sun A; Mekikian PB; Martin J; Rimoin DL; Lachman RS; Wilcox WR
  • A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
    Hum Mutat Volume: 35 Page(s): 945 - 948
    08/01/2014 Authors: VanderMeer JE; Lozano R; Sun M; Xue Y; Daentl D; Jabs EW; Wilcox WR; Ahituv N
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