Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Nadimpalli Kobren S, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Willett J, Berselli M, Ronchetti W, Sherwood R, Krier J, Kohane IS; Undiagnosed Diseases Network; Sunyaev SR.
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bioRxiv [Preprint]. 2024 Feb 16:2024.02.13.580158. doi: 10.1101/2024.02.13.580158.
bioRxiv. 2024.
PMID: 38405764
Free PMC article.
Preprint.