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Author

Briana O'Leary

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2 papers indexed here

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Case report Sep 2026

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

Transcription Co-Activator Factor 20 (TCF20) Associated Neurodevelopmental Disorder (TAND, OMIM: 618430) is a rare autosomal dominant neurodevelopmental disorder most commonly associated with disruptive TCF20 variants and features overlapping Smith-Magenis syndrome (SMS, OMIM: 182290). Here we present a 40-year-old man...

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

Many individuals with rare monogenic disease remain molecularly undiagnosed due to challenges accessing genetic testing, ambiguity in interpretation of uncertain variants, and latency between novel disease-gene discovery and adoption into clinical pipelines. The Rare Genomes Project (RGP) provides a remote, research-ba...

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

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