Publications by authors named "Laura V Barton"

Article Synopsis
  • Next-generation sequencing has revealed pathogenic TP53 variants in patients without typical Li-Fraumeni syndrome (LFS) histories, which may indicate low-penetrance or mosaic LFS.
  • The presence of uncertain significance TP53 variants in those with suspected LFS complicates diagnosis, requiring careful interpretation for proper medical care.
  • A retrospective case review illustrates how multidisciplinary approaches and flowcharts can aid in interpreting challenging TP53 results, presenting eight cases to enhance understanding in clinical settings.
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Objective: Identify predisposing, enabling, and reinforcing factors impacting genetic counseling/testing among ovarian cancer patients guided by Green and Kreuter's PRECEDE-PROCEED model.

Methods: Gynecologic oncology providers (N = 4), genetic counselors (N = 4), and ovarian cancer patients (N = 9) completed semi-structured qualitative interviews exploring participants' knowledge of and experiences with genetic counseling/testing. Interviews were audio recorded, transcribed verbatim, and analyzed using inductive content analysis by two independent raters.

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Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder associated with intellectual disability, sleep disturbances, early onset obesity and vast behavioral deficits. We used the Behavior Problems Inventory-01 to categorize the frequency and severity of behavioral abnormalities in a SMS cohort relative to individuals with intellectual disability of heterogeneous etiology. Self-injurious, stereotyped, and aggressive/destructive behavioral scores indicated that both frequency and severity were significantly higher among individuals with SMS relative to those with intellectual disability.

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