TY - JOUR T1 - Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach JO - Genome Medicine UR - https://eprints.whiterose.ac.uk/id/eprint/218093 PY - 2024/09/09 AU - Jaramillo Oquendo C AU - Wai HA AU - Rich WI AU - Bunyan DJ AU - Thomas NS AU - Hunt D AU - Lord J AU - Douglas AGL AU - Baralle D ED - DO - DOI: 10.1186/s13073-024-01381-w PB - BMC VL - 16 Y2 - 2026/01/25 ER -