Abstract INTRODUCTION Despite major advances in genomic sequencing and analytical pipelines for rare disorders, more than 50% of affected individuals remain without a molecular diagnosis. One challenge is the interpretation of inherited variants exhibiting incomplete penetrance (IP). MATERIALS AND METHODS We developed...
M. Singh, S. Stenton, E. Groopman et al.· medRxiv· 0 citations
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.· medRxiv· 0 citations
By leveraging specialized approaches for prioritizing pseudogenes, combined with the PCG and snRNA analysis, the genes and variants expand the variant pathogenicity spectrum of spliceosomopathies and suggest variants for follow-up case series and future functional validation.
O. Messaoud, S. DiTroia, R. Tarawneh et al.· medRxiv· 0 citations
The data establish BHLHE22 as a previously unrecognized neurodevelopmental disease gene that results in a distinct syndrome characterised by abnormalities in brain development, cognition, tone and movement.
Carolyn Le, T. Kalaycı, Z. Uyguner et al.· Journal of Medical Genetics· 0 citations
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