@misc{misc, title  = {{RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders}},

 url = {{https://doi.org/10.1101/2023.07.05.23292254 }},

 year = {{2023}},

 month = {{7}},

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

 doi = {{10.1101/2023.07.05.23292254}},

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