
Stephanie Bivona
Certified General Genetic Counselor and UDN Site Coordinator · University of Miami/Jackson Health System
Credentials: · ·
History
Research
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
The American Journal of Human Genetics · 2025 · 16 citations
Journal of Genetic Counseling · 2019 · 16 citations
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms
The American Journal of Human Genetics · 2025 · 8 citations

14 papers

9 papers

6 papers
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4 papers

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3 papers



