Search Results - "Haskins, Carolyn G."

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    Six case reports of NTHL1‐associated tumor syndrome further support it as a multi‐tumor predisposition syndrome by Weatherill, Chelsey B., Burke, Sarah A., Haskins, Carolyn G., Berry, Darcy K., Homer, Jeanne P., Demeure, Michael J., Darabi, Sourat

    Published in Clinical genetics (01-02-2023)
    “…NTHL1‐associated tumor syndrome (NATS) is an autosomal recessive condition characterized by an increased risk for colorectal polyposis and colorectal cancer…”
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    Journal Article
  2. 2

    Interpretation of ambiguous TP53 test results: Mosaicism, clonal hematopoiesis, and variants of uncertain significance by Berry, Darcy K., Gillis, Nancy, Padron, Eric, Moore, Colin, Barton, Laura V., Gewandter, Kathleen R., Haskins, Carolyn G., Knepper, Todd C.

    Published in Journal of genetic counseling (01-08-2024)
    “…The increased use of next‐generation sequencing has led to the detection of pathogenic TP53 variants in the germline setting in patients without a personal or…”
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    Journal Article