Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing by Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients by Lane Fitzsimmons, Undiagnosed Diseases Network, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

“…Methods In this pilot study, we present an approach to understand the underlying pathways leading to seizures in patients from the Undiagnosed Diseases Network (UDN) by analyzing aggregated genotype and phenotype data from the UK Biobank (UKB). …”
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