Associated Papers
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.
Jaramillo Oquendo C et al.
Genome Medicine, 2024
39252027 (PubMed )
Supplement: 13073_2024_1381_MOESM2_ESM.xlsx › Table_S1
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32123317 (PubMed )
Supplement: 41436_2020_766_MOESM3_ESM.xlsx › Variant_summary
Select a paper to view details