Julie Chevalier Sapp

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research
    Flavia M Facio
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Med Genomics 5:45. 2012
  2. pmc Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
    Kim M Keppler-Noreuil
    Department of Pediatrics, Division of Medical Genetics, The University of Iowa Children s Hospital, Iowa City, IA 52242, USA
    BMC Med Genet 12:101. 2011
  3. pmc Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene
    Hakan Ulucan
    Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
    BMC Med Genet 9:92. 2008
  4. pmc Ambivalence toward undergoing invasive prenatal testing: an exploration of its origins
    Julie Chevalier Sapp
    Genetic Diseases Research Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA
    Prenat Diagn 30:77-82. 2010
  5. pmc Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity
    Julie C Sapp
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 12:623-7. 2010

Collaborators

Detail Information

Publications5

  1. pmc Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research
    Flavia M Facio
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Med Genomics 5:45. 2012
    ..Massively-parallel sequencing (MPS) technologies create challenges for informed consent of research participants given the enormous scale of the data and the wide range of potential results...
  2. pmc Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
    Kim M Keppler-Noreuil
    Department of Pediatrics, Division of Medical Genetics, The University of Iowa Children s Hospital, Iowa City, IA 52242, USA
    BMC Med Genet 12:101. 2011
    ..The present study represents the largest systematic evaluation for the presence of structural brain malformations and/or progressive changes, which may contribute to these functional problems...
  3. pmc Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene
    Hakan Ulucan
    Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
    BMC Med Genet 9:92. 2008
    ..The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance...
  4. pmc Ambivalence toward undergoing invasive prenatal testing: an exploration of its origins
    Julie Chevalier Sapp
    Genetic Diseases Research Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA
    Prenat Diagn 30:77-82. 2010
    ..This study explores ambivalence toward undergoing amniocentesis among pregnant women with overall positive attitudes. Its novelty lies in the characterization of the type and origins of the ambivalence...
  5. pmc Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity
    Julie C Sapp
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 12:623-7. 2010
    ..The aim of this study was to derive locus-specific recurrence risk estimates for family members of a proband affected with Bardet-Biedl syndrome...