40770127
SN Kobren, MA Moldovan, R Reimers, D Traviglia, X Li, D Barnum, A Veit, RI Corona, GV Carvalho Neto, J Willett, M Berselli, W Ronchetti, SF Nelson, JA Martinez-Agosto, R Sherwood, J Krier, IS Kohane, Undiagnosed Diseases Network, SR Sunyaev (2025). Nat Commun 16: 7267.
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| Authors | SN Kobren, MA Moldovan, R Reimers, D Traviglia, X Li, D Barnum, A Veit, RI Corona, GV Carvalho Neto, J Willett, M Berselli, W Ronchetti, SF Nelson, JA Martinez-Agosto, R Sherwood, J Krier, IS Kohane, Undiagnosed Diseases Network, SR Sunyaev |
| Journal | Nat Commun |
| PMID | 40770127 |
| Pages | 7267 |
| Volume | 16 |
| Year | 2025 |
| labcite | SN Kobren, MA Moldovan, R Reimers, D Traviglia, X Li, D Barnum, A Veit, RI Corona, GV Carvalho Neto, J Willett, M Berselli, W Ronchetti, SF Nelson, JA Martinez-Agosto, R Sherwood, J Krier, IS Kohane, Undiagnosed Diseases Network, SR Sunyaev (2025). Nat Commun 16: 7267. |
| labid | 40770127 |
| labtitle | Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations |
| subject | |
| website | |
| link | |
| preprint | https://doi.org/10.1101/2024.02.13.580158 |
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