• 1785 Citations
  • 13 h-Index
20052020

Research output per year

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Fingerprint Dive into the research topics where Susan D. Klugman is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Publications

Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome

Lin, A. E., Alali, A., Starr, L. J., Shah, N., Beavis, A., Pereira, E. M., Lindsay, M. E. & Klugman, S., Feb 1 2020, In : American Journal of Medical Genetics, Part A. 182, 2, p. 328-337 10 p.

Research output: Contribution to journalArticle

Open Access
  • Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations

    Skotko, B. G., Allyse, M. A., Bajaj, K., Best, R. G., Klugman, S., Leach, M., Meredith, S., Michie, M., Stoll, K. & Gregg, A. R., Oct 1 2019, In : Genetics in Medicine. 21, 10, p. 2285-2292 8 p.

    Research output: Contribution to journalArticle

  • 4 Scopus citations
    Open Access

    17p13.3 quadruplication: A prenatal and postpartum clinical characterization of a copy number variant

    Farris, N., Wu, H., Said-Delgado, S., Suskin, B. & Klugman, S. D., Jun 1 2018, In : Cold Spring Harbor Molecular Case Studies. 4, 3, a002196.

    Research output: Contribution to journalArticle

    Open Access
  • Cell-free DNA for the detection of fetal aneuploidy

    Goldwaser, T. & Klugman, S. D., Feb 1 2018, In : Fertility and Sterility. 109, 2, p. 195-200 6 p.

    Research output: Contribution to journalReview article

  • 1 Scopus citations