• 1934 Citations
  • 13 h-Index

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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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
    3 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

    Non-mendelian genetics

    Klugman, S. & Rabin-Havt, S. S., Jan 1 2019, Perinatal Genetics. Elsevier, p. 11-19 9 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  • 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