@misc{indiciae9559d209fbb9, title = {Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations}, author = {Kobren, S. N. and Moldovan, M. A. and Reimers, R. and Traviglia, D. and Li, X. and Barnum, D. and Veit, A. and Willett, J. and Berselli, M. and Ronchetti, W. and Sherwood, R. and Krier, J. and Kohane, I. S. and Undiagnosed Diseases Network, and Sunyaev, S. R.}, year = {2024}, doi = {10.1101/2024.02.13.580158}, url = {https://www.biorxiv.org/content/10.1101/2024.02.13.580158v1}, note = {Source identifier: 10.1101/2024.02.13.580158} }