• 1859 Citations
  • 13 h-Index
20052020

Research output per year

If you made any changes in Pure these will be visible here soon.

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.

  • 14 Similar Profiles

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

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
  • Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG)

    on behalf of the Professional Practice and Guidelines Committee, Apr 1 2020, In : Genetics in Medicine. 22, 4, p. 681-685 5 p.

    Research output: Contribution to journalArticle

    Open Access
    1 Scopus citations

    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

    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., Jun 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

  • 2 Scopus citations