40770127

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
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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