An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and GenomiserIsabelle Cooperstein, Calum A. MacRae, Jennefer N. Carter et al.|Genome Medicine|2025Cited by 10
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentationsShilpa N. Kobren, Hugo J. Bellen, Mikhail A. Moldovan et al.|Nature Communications|2025Cited by 5