Publications by authors named "Rena Pressman"

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Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.
Kiana Magee, William McGonigle, Rena Pressman, Willa Thorson, Deborah Barbouth

J Hum Genet· March 2025

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First 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

Am J Med Genet A· April 2021

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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Claire Guissart, Xenia Latypova, Paul Rollier, Tahir N Khan, Hannah Stamberger, Rena Pressman

Am J Hum Genet· May 2018

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