@misc{indiciae525cb42ada66, title = {Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records.}, author = {Rory J Tinker and Josh Peterson and Lisa Bastarache}, year = {2023}, doi = {10.1016/j.gim.2023.100921}, url = {https://pubmed.ncbi.nlm.nih.gov/37337966/}, note = {Source identifier: 37337966} }