Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Kobren SN, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Corona RI, Carvalho Neto GV, Willett J, Berselli M, Ronchetti W, Nelson SF, Martinez-Agosto JA, Sherwood R, Krier J, Kohane IS, Sunyaev SR
bioRxiv [Preprint]. 2024 Aug 13:2024.02.13.580158. doi: 10.1101/2024.02.13.580158.
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