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Author

Briana O'Leary

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3 papers indexed here

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Case report Open access Nov 2026

The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease.

Advanced prenatal imaging and chromosomal microarray have improved detection of fetal anomalies, yet many structurally abnormal fetuses remain without a unifying diagnosis. This manuscript describes representative prenatal cases evaluated with genome sequencing (GS) or exome sequencing (ES), demonstrating how genomic d...

M. Bunnell, Briana O'Leary · 0 citations
Case report Open access Sep 2026

Syndromic Hirschsprung Disease With a Novel De Novo Sense Exonic SVA Insertion of TCF20.

The occurrence of congenital, biopsy-confirmed Hirschsprung disease in this patient suggests that intestinal aganglionosis may represent an uncommon extension of the gastrointestinal phenotype associated with TAND, in which chronic constipation and gastrointestinal dysmotility are already recognized.

Briana O'Leary, Aditya Ramanujan, Aria Belle et al. · 0 citations
Open access Sep 2026

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

RGP demonstrates that a research-based, patient-driven remote sequencing study can effectively bridge a diagnostic gap for rare disease families underserved in current clinical care and underscores the clinical utility of GS with frequent re-analysis.

A. O'Donnell-Luria, Stephanie P. DiTroia, Melanie C. O'Leary et al. · 0 citations

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