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1501 NW 10th AveMiami, FL 33136
Phone+1 305-243-5432
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Education & Training
- OtherClass of 2016
Publications & Presentations
PubMed
- Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.Kiana Magee, William McGonigle, Rena Pressman, Willa Thorson, Deborah Barbouth
Journal of Human Genetics. 2025-03-01 - 13 citationsFirst reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature.Michelle Bartlett, Nima Nasiri, Rena Pressman, Guney Bademci, Irman Forghani
American Journal of Medical Genetics. Part A. 2021-01-11 - 47 citationsDual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar AtaxiaClaire Guissart, Xenia Latypova, Paul Rollier, Tahir N. Khan, Hannah Stamberger
American Journal of Human Genetics. 2018-05-03
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