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Svetlana Yatsenko, MD

Associate Professor, Department of Obstetrics, Gynecology & Reproductive Sciences, Associate Professor, Department of Pathology, Director, Pittsburgh Cytogenetics Laboratory

The XX-axis and XY-axis of human health: We do research to understand the genetic differences between man and women, to define the genes that affect women development, health, and fertility, and find the ways to cure gender-specific diseases.
Svetlana Yatsenko, MD

Research in Brief

Dr. Yatsenko’s main research interests concentrate on study of molecular basis and mechanisms of genomic alterations and complex chromosomal rearrangements, as well as gene dosage effects that lead to congenital disorders, birth defects and cancer. Dr. Svetlana Yatsenko is interested in both basic and translational clinical research studies. Dr. Yatsenko has developed and utilized a high-resolution custom microarray to study alterations involving the X chromosome. Her current projects have focused on the X chromosome alterations and their contribution to disorders of sex determination, ovarian and testicular failure, fetal development, and tumor predisposition. She is also engaged in research aimed to investigate biological and technological bases for false positive and false negative findings of cell free DNA analysis in pregnant women and improve non-invasive methods for fetal genomic diagnoses.

  • Yatsenko SA, Rajkovic A. Genetics of human female infertility. Biol Reprod. 2019. pii: ioz084. PMID: 31077289.
  • Yatsenko SA, et al. A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency. Genet Med. 2019; PMID: 30948856
  • Katari S, et al. Chromosomal instability in women with primary ovarian insufficiency. Hum Reprod. 2018; 33:531-538. PMID: 29425284.
  • Aarabi M, et. al. Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation. Eur J Med Genet. 2018; pii:S1769-7212(18)30285-4. PMID: 30048823.
  • Aarabi M, et. al. Importance of complete phenotyping in prenatal whole exome sequencing. Hum Genet. 2018; 137(2):175-181. PMID:29392406.
  • Dangle P, et al. Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region. J Med Genet 2017; 54:705-709. PMID: 28483799.
  • Tas E, et. al. Familial deletion of the HOXA gene cluster associated with hand-foot-genital syndrome and phenotypic variability. Am J Med Genet A. 2017; 173:221-224. PMID: 27649277.
  • Yatsenko SA, et al. Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays. Fertil Steril. 2017;107(2):457-466.e9. PubMed PMID: 27889101.
  • Yatsenko SA, et al. Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. Genet Med. 2015;17(10):836-8. PMID: 25569438
  • Yatsenko SA, et al. Application of chromosomal microarray in the evaluation of abnormal prenatal findings. Clin Genet. 2013;84(1):47-54. PMID: 23020214.