Where I see patients (2)
Selected research
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Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community.
Prenatal diagnosis
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Single nuclei and spatial profiling of sacrococcygeal teratomas reveals cellular composition and X inactivation heterogeneity.
NPJ precision oncology
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Evidence for Maternal Autoantibodies in the Pathogenesis of Preterm Birth.
medRxiv : the preprint server for health sciences
Clinical trials
Registry of Patients Diagnosed With Lysosomal Storage Diseases
Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO.
Recruiting
More about this study
International Registry of Patients With Alpha Thalassemia
Number of fetuses diagnosed with alpha thalassemia who survive to birth, compared to number of fetuses diagnosed with alpha thalassemia who have fetal demise or are terminated in utero. This is measured in number of fetuses alive ...
Recruiting
More about this study
Prenatal Transplantation for Fetuses With Fanconi Anemia
Number of maternal participants with treatment-emergent adverse events (TEAEs) as assessed by CTCAE v6.0.
Recruiting
More about this studyMy work
Fetal therapy offers hope for treating genetic disorders
An experimental therapy helped a family that had already lost two babies to a rare disorder with critical guidance from Dr. MacKenzie.
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