Search Results - "Lopes, Jaime L."

  • Showing 1 - 13 results of 13
Refine Results
  1. 1

    Uniparental disomy of multiple chromosomes in two cases with a complex phenotype by Polonis, Katarzyna, Lopes, Jaime L., Cabral, Huong, Babcock, Holly E., Kline, Laura, Ruiz, Kaylee M., Schwartz, Stuart, Hasadsri, Linda, Rowsey, Ross A., Hoppman, Nicole L.

    “…Uniparental disomy (UPD) is the inheritance of both chromosomal homologs from one parent. Depending on the chromosome involved and the parental origin, UPD may…”
    Get full text
    Journal Article
  2. 2
  3. 3

    Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome Sequencing by Lopes, Jaime L, Rasmussen, Kristen J, Mehta, Nikita, Boczek, Nicole J, Hasadsri, Linda

    Published in Clinical chemistry (Baltimore, Md.) (01-01-2020)
    “…Karyotyping for the bone marrow specimen was normal. [...]the patient's condition was ultimately diagnosed as clonal cytopenia of undetermined significance,…”
    Get full text
    Journal Article
  4. 4

    Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated by Lopes, Jaime L., Lopes, Guilherme S., Enninga, Elizabeth A. L., Kearney, Hutton M., Hoppman, Nicole L., Rowsey, Ross A.

    Published in Prenatal diagnosis (01-06-2020)
    “…Objective We aimed to test for an association between the amount of circulating fetal cell‐free DNA and trisomy, and whether NIPS failure due to low fetal…”
    Get full text
    Journal Article
  5. 5
  6. 6

    FANCM, RAD1, CHEK1 and TP53I3 act as BRCA-like tumor suppressors and are mutated in hereditary ovarian cancer by Lopes, Jaime L., Chaudhry, Sophia, Lopes, Guilherme S., Levin, Nancy K., Tainsky, Michael A.

    Published in Cancer genetics (01-06-2019)
    “…•Deficiency of CHEK1, FANCM and TP53I3 led to reduced homologous recombination repair efficiency.•Deficiency of RAD1, CHEK1 or FANCM led to a decrease in…”
    Get full text
    Journal Article
  7. 7
  8. 8
  9. 9
  10. 10
  11. 11
  12. 12

    Targeted Genotyping in Clinical Pharmacogenomics by Lopes, Jaime L., Harris, Kimberley, Karow, Mary Beth, Peterson, Sandra E., Kluge, Michelle L., Kotzer, Katrina E., Lopes, Guilherme S., Larson, Nicholas B., Bielinski, Suzette J., Scherer, Steven E., Wang, Liewei, Weinshilboum, Richard M., Black, John L., Moyer, Ann M.

    Published in The Journal of molecular diagnostics : JMD (01-03-2022)
    “…Clinical pharmacogenomic testing typically uses targeted genotyping, which only detects variants included in the test design and may vary among laboratories…”
    Get full text
    Journal Article
  13. 13