@misc{indiciae7a635461b302,
  title = {Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.},
  author = {Shilpa Nadimpalli Kobren and Mikhail A Moldovan and Rebecca Reimers and Daniel Traviglia and Xinyun Li and Danielle Barnum and Alexander Veit and Rosario I Corona and George de V Carvalho Neto and Julian Willett and Michele Berselli and William Ronchetti and Stanley F Nelson and Julian A Martinez-Agosto and Richard Sherwood and Joel Krier and Isaac S Kohane and Undiagnosed Diseases Network and Shamil R Sunyaev},
  year = {2025},
  doi = {10.1038/s41467-025-61712-2},
  url = {https://pubmed.ncbi.nlm.nih.gov/40770127/},
  note = {Source identifier: 40770127}
}