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Publications
Publications (23)
Context
Carriers of a CYP21A2 pathogenic variant exhibit distinct hormonal differences, yet their impact on assisted reproductive technology outcomes remains unknown.
Objective
To evaluate whether carriers of a CYP21A2 pathogenic variant exhibit differences in ovarian stimulation response and in vitro fertilization outcomes compared with non-carri...
To determine whether the embryonic euploidy rate and live birth outcomes following single, euploid embryo transfer (SEET) differ among women of self-reported racial and ethnic backgrounds.
This retrospective cohort study included all infertile patients of different self-reported racial backgrounds who underwent In vitro fertilization (IVF) with pre...
We characterize the clinical utility and economic benefits of a comprehensive pan-ethnic carrier screening panel that spans 282 monogenic disease conditions in a large, diverse population of 397,540 reproductive health patients. For 142,049 of these patients, we were able to accurately estimate genetic ancestries across 7 major population groups. W...
Objective:
Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. However, the current prevalence of carrier status for these conditions in developing countries is not well defined. This study assesses the prevalence of carrier status of selected genetic...
