Insights from multidisciplinary rare disease visits: Findings from wrap-up documents and participant surveys in a national diagnostic study.
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths.
FAVOR 2.0: A reengineered functional annotation of variants online resource for interpreting genomic variation.
