@article{article, title  = {{Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach}},

 publisher = {{BMC}},

 url = {{https://eprints.whiterose.ac.uk/id/eprint/218093 }},

 year = {{2024}},

 month = {{9}},

 author = {{Jaramillo Oquendo C and Wai HA and Rich WI and Bunyan DJ and Thomas NS and Hunt D and Lord J and Douglas AGL and Baralle D}},

 doi = {{10.1186/s13073-024-01381-w}},

 volume = {{16}},

 journal = {{Genome Medicine}},

 note = {{Accessed on 2026/01/25}}}