Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations by Shilpa Nadimpalli Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum, Alexander Veit, Rosario I. Corona, George de V. Carvalho Neto, Julian Willett, Michele Berselli, William Ronchetti, Stanley F. Nelson, Julian A. Martinez-Agosto, Richard Sherwood, Joel Krier, Isaac S. Kohane, Undiagnosed Diseases Network, Shamil R. Sunyaev

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